Genetics and Genomics

Aug 20-21, 2014
957
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26966
 

The theme of this conference is a range of genetics and genomics topics such as Bioinformatics and Quantitative Genomics, Cancer Detection, Cancer Genomics, Clinical Genomics, Complex Diseases, Environmental Genomics, Epidemiology and Population Genetics, Epigenetics/Epigenomics, FDA, Regulatory, Law, Gene expression, Gene Therapy, Genetics and Genomics Testing, Genomic medicine, Genomics of IPS cell lines, Post-GWAS-era, Precision Medicine, Prenatal, Prokaryotic Genetics, Sequencing or NGS, Synthetic and Systems Biology, Translational and Discovery Genomics and much more. Attendees can earn free CME, CE and CEU Credits.

The learning objectives for this conference are as follows:

  • Ability to contrast previous and newly released guidelines
  • Take action to increase partnership and collaboration with clinicians
  • Identify actions that can be taken to deliver quality results faster to clinicians
  • Better define personalized healthcare today and explain the role of companion diagnostics
  • Better describe diagnostic tools used in the patient workups
  • Better describe how the evolution of laboratory testing in health has impacted the patient
  • Provide screening, diagnosis and monitoring technologies presently in the clinical laboratory.
  • Demonstrate the different types of laboratory testing.
  • Explain how testing is used in diagnosis.
  • Identify the role of the clinical laboratory in contributing to or preventing diagnostic errors
  • Identify laboratory directed interventions that can reduce diagnostic errors

This event will bring together research scientists, post docs, principal investigators, lab directors and professionals from around the world to learn about recent advances in genetics and genomics. This conference offers an amazing opportunity as it is free to participants, and there will be no out-of-pocket expenses for travel. However, participants will still benefit from interacting with a global community of like-minded colleagues, without leaving the comfort of their office or home.

Conference participants will be able to

  • Attend interactive live streaming video sessions
  • Have their questions answered in real-time by industry experts
  • Chat live with peers and speakers
  • Browse a virtual exhibit floor for solution providers

No crowded airports, delayed flights or expensive hotel rooms, but still the look and feel of a first-rate conference with world renowned experts. Participants also benefit from the fact that experts and vendors are more accessible, no more waiting in line to speak to someone. Think it is too good to be true? Checkout the venue and become a believer.

Speakers

(See Agenda)
Department Chair, Department of Systems Biology ...
Wayne H. and Sara Crews Finley Chair of Medical ...
Core Faculty Member, The Broad Institute of ...
Research Associate, Genome Institute of Singapore ...
Founder & President, Rare Genomics Institute ...
Associate Director for Population Sciences ...
Director of Computational Sciences and Informatics ...
GIS fellow, Genome Institute of Singapore, A*STAR ...
Director, Division of Genomic Technologies, RIKEN ...
Assistant Professor, Harvard Medical School ...
Assistant Director, University of Iowa - Iowa ...
President, Coastal Genomics
Clinical Molecular Genetics Fellow, Partners ...
Director of Bioinformatics, Assistant Laboratory ...
Distinguished Scientist, Illumina, Inc ...
Postdoctoral researcher, HHMI research associate ...
Next-Gen Application Scientist, DNASTAR
Professor, Department of Medicine, Chief, Division ...
Senior Scientist, Synthetic Biology Group, J ...
Professor of Computational Biology and ...
Director of OncoScan Product Marketing Strategy ...
Assistant Professor of Chemical and Biological ...
Assistant Professor, Department of Systems & ...
CEO, CSO and Co-Founder, AllSeq, Inc ...
Founder and CEO, Gene Counsel
Professor, Scientific Director, Head of MSc ...
Senior Researcher, Uppsala University, Centre for ...
Assistant Professor Department of Molecular ...
Chief Scientific Officer, Pacific Biosciences
Albert L. Williams Professor of Biomedical ...
Department Chair, Department of Systems Biology ...
Joanna Hamilton, PhD, Co-Director, Dartmouth ...
Assistant Professor, Department of Computational ...
Director, Head of Biological research content ...
Field Application Scientist, Ingenuity Systems, a ...
Research Professor of Epidemiology, Emory ...

Genetics and Genomics

Agenda

All times are Pacific Time

Keynote-+

Aug 20, 6:00 AM - 7:00 AM PT

Keynote: Delivering on the promise of personalized medicine

Gordon B Mills, MD, PhD

Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center

Aug 21, 7:30 AM - 8:30 AM PT

Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing

Robert Nussbaum, MD

Professor, Department of Medicine, Chief, Division of Medical Genetics, Holly Smith Distinguished Professorship in Science and Medicine, University of California, San Francisco Helen Diller Family Comprehensive Cancer Center

Aug 21, 11:15 AM - 12:15 PM PT

Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges

Bruce R Korf, MD, PhD

Wayne H. and Sara Crews Finley Chair of Medical Genetics, Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham

Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the rapid introduction of sequencing-based testing into the clinic. Genomics has already changed our approach to prevention, diagnosis, and treatment of disease; the day is not far off when most medical decisions will be to some extent informed by the outcome of a genetic or genomic test. Most practicing physicians were trained well prior to the genomic era, and even those who remember what they were taught about genetics will find that the field has changed beyond recognition. Although some of the genomics applications will be mediated through point-of-care decision support systems, there is a need for physicians to gain competency in multiple areas of genetic and genomic medicine. This includes use and interpretation of genetic and genomic predictive and diagnostic tests, using pharmacogenetic information to adjust drug administration, and customizing treatment to specific subtypes of disease defined by genetic testing. Physicians will also need to be able to incorporate the results of genome sequencing, including responding to incidental findings of genetic changes that indicate risk of disease. These educational challenges will need to be met for physicians in training and in practice, and will require the use of multiple educational modalities, including use of approaches such as online courses and case studies. Genetics and genomics may also be built into the maintenance of certification requirements in many specialty areas. A framework for development of physician competencies in genomic medicine has been formulated, which may facilitate the process of educating non-genetics physicians about genetics and genomics. There is a great need for innovative approaches to genetics and genomics education that will prepare physicians and other health providers.

Bioinformatics and Quantitative Genomics-+

Aug 20, 12:30 PM - 1:30 PM PT

Integrative Systems Approaches to Network Modeling of Biological Processes

John Quackenbush, PhD

Professor of Computational Biology and Bioinformatics, Department of Biostatistics, Harvard University, Dana-Farber Cancer Institute

Aug 21, 6:45 AM - 7:15 AM PT

Development and Applications of CRISPR-Cas9 for Genome Editing

Feng Zhang, PhD

Core Faculty Member, The Broad Institute of MIT/Harvard, Investigator, McGovern Institute for Brain Research, W.M. Keck Career Development Professor of Biomedical Engineering Assistant Professor, Department of Brain and Cognitive Sciences

The Cas9 endonuclease from the microbial adaptive immune system CRISPR can be easily programmed to bind or cleave specific DNA sequence using a short RNA guide. Cas9 is enabling the generation of more realistic disease models and is broadening the number of genetically-tractable organisms that can be used to study a variety of biological processes. The Cas9 nuclease can also be modified to modulate transcription, alter epigenetic states, and track the dynamics of chromatin in living cells. In this presentation we will look at the latest developments and applications of the Cas9 nuclease for understanding the function of the mammalian genome. We will also look at the on-going challenges as well as future prospects of the technology.

Aug 21, 2:30 PM - 3:00 PM PT

Integrating patient specific information in rare disorder analysis

Asif Javed, PhD

Research Associate, Genome Institute of Singapore (GIS), A*STAR

Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the need for new discovery tools interrogating both coding and non-coding regions. We introduce Phen-Gen, which combines patients disease symptoms and sequencing data with prior domain knowledge in a holistic prediction to identify the causative gene(s). Phen-Gen works with both exome and whole genome sequencing data and has been evaluated in extensive simulations as well as real datasets.

Cancer Genetics-+

Aug 20, 10:45 AM - 11:15 AM PT

OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection

Padma Sundar, MBA, MPH

Director of OncoScan Product Marketing Strategy, Affymetrix

A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tumors, driven by somatic mutations. The C class tumors were ovarian cancer, breast cancer, squamous cell lung cancer and head and neck cancers. Prostate cancer is also believed to be a C class tumor. The publication also listed 23 actionable copy number alterations that are targetable based on currently available therapies.
NGS based technologies are not cost effective for the detection copy number changes in heterogeneous, solid tumor FFPE samples owing to the high depth of sequencing required to detect CNV in this sample type.
In this talk, the presenter will describe the Molecular Inversion Probes (MIP) technology, for the detection of genome wide copy number changes, with high resolution in ~900 cancer genes, using less 80ng of DNA from formalin fixed paraffin embedded (FFPE) samples such as those from biopsies, ,There have been over 100 publications in the last two years using the MIP based OncoScan Assay. She will present on some key publications using the platform.
She will also share case studies across several solid tumors, where actionable copy number alterations were observed in patients who had no actionable somatic mutations, and thus emphasize the need for a reliable copy number platform for solid tumors to complement next generation sequencing based somatic mutations panels offered by many CLIA certified laboratories.
1. Ciriello G., et al. Emerging landscape of oncogenic signatures across human cancers. Nature Genetics 45(10):1127−1133 (2013). doi: 10.1038/ng.2762.
2. Huw L., et al. Acquired PIK3CA amplification causes resistance to selective phosphoinositide 3-kinase inhibitors in breast cancer. Oncogenesis 2:e83 (2013). doi: 10.1038/oncsis.2013.46.

Cell Biology-+

Aug 20, 7:15 AM - 7:45 AM PT

Establishing cell-free biology for the production of therapeutics, materials, and chemicals

Michael C Jewett, PhD

Assistant Professor of Chemical and Biological Engineering, Northwestern University

Imagine a world in which we could adapt biology to manufacture any therapeutic, material, or chemical from renewable resources, both quickly and on demand. Industrial biotechnology is one of the most attractive approaches for addressing this need, particularly when large-scale chemical synthesis is untenable. Unfortunately, the fraction of biobased products amenable to economical production is limited because engineering whole-cell microorganisms with synthetic pathways remains costly and slow. We hypothesize that a key problem to these efforts lies with the inherent limitations imposed by cells. Microbial cells exist to produce more cells, not to produce items of commerce, which often are an unnecessary or even toxic burden on the primary cellular objectives of growth and adaptation. This leads to a variety of challenges afflicting the current state-of-the-art, including: low yields and productivities, build-up of toxic intermediates or products, and byproduct losses via competing pathways. To overcome these limitations, we are expanding the scope of the traditional engineering model in biotechnology by using cell-free systems to harness ensembles of catalytic proteins prepared from crude lysates, or extracts, of cells for the production of target products. Rather than attempt to balance the tug-of-war between the cells objectives and the engineers objectives, we are developing new paradigms for designing, building, and testing cell-free systems that harness and modify biological systems involved in protein synthesis and metabolism. In this presentation, I will discuss our efforts to develop cost-effective, high-throughput cell-free protein synthesis platforms, expand the chemistry of life using non canonical amino acids, construct and evolve synthetic ribosomes, and produce sustainable chemicals with ultrahigh productivities. Our work is enabling a deeper understanding of why natures designs work the way they do and opening new frontiers for biomanufacturing.

Clinical Genomics-+

Aug 21, 8:45 AM - 9:15 AM PT

Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings

Jimmy Lin, MD, PhD, MHS

Founder & President, Rare Genomics Institute, School Faculty Member, Washington University in St. Louis

Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to grow, much of the effort needed is functional analysis and clinical correlation. At RGI, we are building a comprehensive functional genomics platform that includes electronic health records, biobanking, data management, scientific idea crowdsourcing and contract research sourcing.

Complex Diseases-+

Aug 21, 9:45 AM - 10:15 AM PT

Pathway based analyses for genetic susceptibility to cancer and autoimmune disease

Christopher I Amos, PhD

Associate Director for Population Sciences, Professor of Community and Family Medicine at the Geisel School of Medicine, Norris Cotton Cancer Center, Dartmouth College

In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimmune diseases. The goal of this research has been to identify sets of genes that influence disease risk using extensive data that have been developed by collaborative studies. These studies involve research groups from multiple locations across the world, which raises issues about joint analysis of the data. Rather, we adopt an approach in which analyses are performed by center and then merged, to perform first pass meta-analyses. Additionally, we apply novel approaches to organizing the data into pathways while allowing for correlations among markers to reduce discovery of false positive findings. Results from applications to lung cancer and selected autoimmune diseases will be described.

Aug 21, 11:30 AM - 12:30 PM PT

Understanding the Genetics of Common Disease: Using Big Data approaches to see the emergent whole

Kenneth Buetow, PhD, FACMI

Director of Computational Sciences and Informatics Program for Complex Adaptive Systems, Professor, the School of Life Sciences, Arizona State University

The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and prevention. These technologies identify the millions of variants present in normal individuals and thousands of alterations that occur during the course of tumor development. This systems-wide molecular analysis has identified a complex cacophony of inherited and acquired variation. The integration and interpretation of this complex multidimensional information into evidence exceeds raw human cognitive capacity. It presents challenges of contextualizing the data and converting it into actionable information.

Data Science has the capacity to provide the needed tools to tackle this challenge. Arizona State Universitys (ASU) Complex Adaptive Systems team is building a first generation Data Science research platform - the Next Generation Cyber Capability (NGCC). The ASU NGCC composed of hardware, software, and people transforms Big Data to information and creates the evidence necessary to enable personalized medicine. The NGCC permits data points to be evaluated in concert using Big Data analytic frameworks thereby identifying an emergent, coherent whole. Biologic network analysis represents one such promising integrative approach. These networks account for the individual heterogeneity in underlying etiology as well as the interaction of diverse events necessary to generate a complex phenotype such as cancer. Emerging collections of analytic approaches permit analysis using genome-wide data sets and established biologic networks as models.

These approaches are being applied to understand the origins and outcomes of cancer. Big Data approaches are identifying key biologic processes underpinning cancer susceptibility and oncogenesis. Novel analytic approaches are being applied to identify new strategies for intervention.

Gene Expression-+

Aug 20, 2:15 PM - 2:45 PM PT

Identifying transcriptional regulators of human embryonic development via expression variability

Jessica C Mar, PhD

Assistant Professor, Department of Systems & Computational Biology, Assistant Professor, Department of Epidemiology & Population Health, Albert Einstein College of Medicine

Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability of gene expression reflects how consistent expression levels are between cells of the same embryo. An analysis of expression variability can therefore identify which genes are consistently or heterogeneously expressed in a population of cells, and provides a window into regulatory control. Using an analysis of previously published single-cell RNA-seq data set on embryos at collected at different developmental stages, we have identified a putative set of gene expression markers of morulae and blastocyst stages based on changes in intercellular variability. We highlight how genes with extreme levels of variability are enriched for distinct functions and pathways; lowly variable genes operate in maintenance pathways such as protein synthesis, gene expression and cell cycle while highly variable genes tend to be involved in metabolism. Our results suggest that genes with critical and survival roles for the cell are expressed stably while those related to specialized functions are have variable inter-cellular expression. We identified genes with invariant expression across the development stages; such genes fall clearly into three categories of modes corresponding to off, on and highly activated levels of expression. Genes switched on are involved in critical regulatory pathways like EIF2 signaling, protein ubiquitination and mTOR signaling. Genes that are consistently off function in the development of specialized cell types and metabolites. Overall, our analysis suggests new regulators involved in controlling the development of human embryos that would have otherwise been missed using methods that focus on average expression levels and highlight the value in studying expression variability.

Aug 21, 6:00 AM - 6:30 AM PT

Landscape and variation of RNA secondary structures in the human transcriptome

Yue Wan, PhD

GIS fellow, Genome Institute of Singapore, A*STAR, Genome Institute of Singapore

Aug 21, 3:00 PM - 4:00 PM PT

Unexpected Findings from Analysis of Complex Mammalian Transcriptomes

Piero Carninci, PhD

Director, Division of Genomic Technologies, RIKEN Center for Life Science Technologies

Gene Therapy-+

Aug 21, 8:45 AM - 9:15 AM PT

From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study

Luk H Vandenberghe, PhD

Assistant Professor, Harvard Medical School, Assistant Scientist, Schepens Eye Research Institute, Massachusetts Eye and Ear

Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defective virus or vector based on the adeno-associated virus type 2 (AAV2), a small non enveloped ssDNA virus endemic in human population. AAV2 targets the retinal pigment epithelium (RPE) at high efficiency in small and large animal models, which is the primary target in these studies. Retinal disease however has a range of etiologies and cell types at the basis of its pathogenesis, and a broader set of tools to deliver therapeutic genes to the retina is required. Here, we describe our past and current efforts to develop novel vectors and therapeutic strategies to unlock genetic treatment for retinal blinding disorders.

Genetic Counceling, FDA, Regulatory, Law-+

Aug 20, 11:45 AM - 12:15 PM PT

Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward

Ellen T Matloff, MS, CGC

Founder and CEO, Gene Counsel

The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more comprehensive BRCA testing at lower prices. Most of these laboratories also offered BRCA1 and 2 on a panel with many genes involved in cancer development. Most of these genes are lesser studied and understood than BRCA1 and 2 and often include variants of uncertain significance. Deciphering if a mutation is clinically relevant, how that patient should be followed, if the genetic finding is actually responsible for the cancers in the family and segregates with disease, and determining whether carrier status is important to the surveillance, chemoprovention and prophylactic surgery recommendations made to the patient has greatly increased the complexity of the field. All of this information will be discussed as well as what we can expect from the field as whole-exome sequencing becomes a clinical reality.

Aug 21, 10:45 AM - 11:15 AM PT

The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine

Colleen Campbell, PhD

Assistant Director, University of Iowa - Iowa Institute for Human Genetics

For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the general public about genomics. The Iowa Institute of Human Genetics (IIHG) currently offers several PGM tests including a pharmacogenomic test for clopidogrel and clinical whole exome sequencing. Through our experience we have learned there are many challenges to implementing an institutional genomic medicine program such as; delivery of accurate and timely genomic test results in a cost-effective and high-throughput manner; rapid ways to analyze and store clinical genomic data, a reliable variant database for data interpretation; integration of genetic results in the electronic medical record; and limited insurance reimbursement of genomic testing. In addition, the fields of genetics and genomics are changing at such a rapid pace, and most practicing health care providers did not have this information as part of their training.
Genetic counselors are members of the health care team with specialized training in medical genetics and counseling who communicate scientific information in plain language, provide risk assessment, education, and support to patients with genetic conditions and their families. With these skills, genetic counselors are poised to take an active role in the incorporation of genomic medicine into non-genetics specialties, and participate in the development of solutions to the challenges facing PGM. They can also promote public awareness and engagement in genomics, and work with regulatory, funding, and legislative organizations to educate members of these groups about the impact and use of PGM to aid in increased reimbursement of genomic testing. In this presentation, the current state of PGM in Iowa will be discussed along with the areas in which genetic counselors can aid in the implementation of institutional personalized genomic medicine programs.

Genetic Testing-+

Aug 20, 8:45 AM - 9:15 AM PT

Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic

Dani Bercovich, PhD

Professor, Scientific Director, Head of MSc program in Biotechnology, Tel Hai College, GGA - Galil Genetic Analysis

The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chips and image the data in real time for quantity determination of DNA copy numbers (CNV) or mRNA expression in multiple loci locations or genes, and can also to be used as an endpoint image reader for analyzing different allelic genotyping frequencies like in a panel of 92 most common mutations, in the Israeli populations, for 42 different mono genetic disorders, and 15-14 common mutations in Breast/Ovarian and Colon cancers.
Digital-PCR gene chip were used to determine the number of a human gene which were incorporated in a plant cells for the production of this protein to treat human disease. CGH array and next-generation sequencing (NGS) technologies has reduced sequencing cost by orders of magnitude and significantly increased the throughput, making whole-exom sequencing a possible way for obtaining global genomic information about patients on whom clinical actions may be taken and were used to locate new genes associated with complex clinical genetic diseases. Tumors genetic is define using OnocoScan gene chip and the nano-fluidic gene chips by RT-PCR reactions on several most common somatic mutations to define most suitable chemotherapy treatments in different cancers types.

Aug 20, 11:45 AM - 12:15 PM PT

Ethical, Legal and Social Issues of Direct-to-Consumer Genetic Testing

Heidi C Howard, PhD

Senior Researcher, Uppsala University, Centre for Research Ethics & Bioethics

Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or ordering of genetic tests outside of the traditional healthcare setting and often without the intermediate of a healthcare professional. The types of tests sold by these companies include single gene tests, multiple genes tests and genome-wide-testing also known as personal genome scanning, whereby hundreds of thousands to millions of genetic markers (often single nucleotide polymorphisms) are tested throughout the genome. Although not so common, some companies are also now selling whole genome and whole exome sequencing DTC. Although the majority of the popular media coverage and much of the academic debates have focussed on companies selling genome-wide-testing services (from companies such as 23andMe, and in the past deCODE and Navigenics), there are also many DTC genetic testing companies that do not sell this type of testing. Also contributing to the variation in the DTC genetic testing market is the great deal of variation regarding the purpose of the tests on offer; for example, different tests can provide information regarding ancestry, carrier status, disease risk (presymptomatic, prenatal, susceptibility), nutrigenomics or pharmacogenomics. The advent of this commercial offer of genetic testing, raises some new and not so new ethical, legal and social issues (ELSI). In this presentation, I will describe the phenomena of DTC genetic testing, present what advocates and critiques have to say about this offer, and discuss the ELSI.

Aug 21, 11:30 AM - 12:15 PM PT

Automation of High Throughput Agarose Gel Electrophoresis with the NIMBUS Select Featuring Ranger Technology

Matthew Nesbitt, MSc

President, Coastal Genomics

Coastal Genomics and the Hamilton Company have teamed up to combine the NIMBUS 96 channel platform with Ranger Technology to automate high throughput agarose gel electrophoresis. The new NIMBUS Select workstation can be used to conduct accurate size selection or as an analytical platform for the generation of electropherograms. The related consumables offered by Coastal Genomics are inexpensive, while the 96 channel NIMBUS Select offers high sample capacity up to 96 samples can be size selected in a 2 hour run. Additionally, the workstation can be leveraged as a standard 96 channel instrument when not in use for agarose gel electrophoresis. This presentation will outline the method of operation, level of automation, and exciting performance metrics of the NIMBUS Select workstation.

Genetic and Genomic Medicine-+

Aug 20, 10:45 AM - 11:15 AM PT

The Impact of the $1000 Genome on Medicine

Shawn Baker, PhD

CEO, CSO and Co-Founder, AllSeq, Inc.

Human Genetics-+

Aug 20, 8:00 AM - 8:30 AM PT

High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers

David E Symer, MD, PhD

Assistant Professor Department of Molecular Virology, Immunology and Medical Genetics, Assistant Professor, Division of Hematology, Department of Internal Medicine, Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center

One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variation in flanking host genomic DNA, both in human cancer cell lines and primary tumors. A combination of whole-genome sequencing and other molecular assays revealed HPV integrants frequently adjacent to and bridging extensively amplified and rearranged genomic sequences, including deletions, inversions, and chromosomal translocations. We developed a model of looping to explain these data. Our model suggests that HPV integrant-mediated DNA replication and recombination may result in viralhost DNA concatemers, frequently disrupting genes involved in oncogenesis and amplifying the HPV oncogenes E6 and E7. Using innovative new long-range deep sequencing methods, we currently are characterizing in detail these genomic structural variants, induced by HPV integration in primary human cancers. Use of such high-resolution genomics methods has shed new light on a catastrophic process, distinct from chromothripsis and other mutational processes, by which HPV can induce genomic instability and disrupt candidate cancer-causing genes.

Aug 20, 11:30 AM - 12:30 PM PT

More Comprehensive Views of Human Genetic Variation

Jonas Korlach, PhD

Chief Scientific Officer, Pacific Biosciences

High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of all variant bases are contained in larger, structural genome changes; this non-SNP DNA variation accounts for ~20-25% of all genetic variation events. These types of variation are more difficult to address with short-read sequencing because of its read length limitations. Structural genomic variation plays important roles in numerous diseases, e.g. many repeat expansion disorders such as fragile X syndrome (the most common heritable form of cognitive impairment), variable number tandem repeat (VNTR) disorders, or structural breakpoints in cancer, to name just a few.
In my talk, I will highlight how multi-kilobase reads from PacBio sequencing can resolve many of these previously considered 'difficult-to-sequence' genomic regions. The long reads also allow phasing of the sequence information along the maternal and paternal alleles, which I will exemplify by full-length, fully phased HLA class I & II gene sequencing. In addition, characterizing the complex landscape of alternative gene products is currently very difficult with short-read sequencing technologies, and I will describe how long-read, full-length mRNA sequencing can be used to describe the diversity of transcript isoforms, with no assembly required. Lastly, in the exciting area of gene therapy, I will highlight how long PacBio reads can more accurately and efficiently measure outcomes of genome editing studies.

Human Genome-+

Aug 20, 7:00 AM - 7:30 AM PT

Human Genome Analysis

Mark B Gerstein, PhD

Albert L. Williams Professor of Biomedical Informatics, Co-Director, Yale Computational biology and Bioinformatics Program, Yale University

The ENCODE and modENCODE consortia have generated a resource containing large amounts of transcriptomic data, extensive mapping of chromatin states, as well as the binding locations of >300 transcription factors (TFs) for human, worm and fly. We performed extensive data integration by constructing genome-wide co-expression networks and transcriptional regulatory models, revealing fundamental principles of transcription conserved across the three highly divergent animals.
In particular, we found the gene expression levels in the organisms, both coding and non-coding, can be predicted consistently based on their upstream histone marks. In fact, a "universal model" with a single set of cross-organism parameters can predict expression level for both protein coding genes and ncRNAs. Carrying out the same type of "predictions" for TFs, we found that information in their binding is more localized to near the TSS region than that of histone marks but is largely redundant with that of the marks.
Surprisingly, only a small number of TFs are necessary in the models to successfully predict expression (e.g. ~5 of the >1000 in human).

Precision Medicine-+

Aug 20, 6:00 AM - 7:00 AM PT

The realization of the promise of personalized molecular medicine requires efficient development and implementation of novel targeted therapeutics lin

Gordon B Mills, MD, PhD

Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center

Sequencing-+

Aug 20, 7:30 AM - 8:30 AM PT

Panel Discussion: Increasing productivity and reproducibility by automating DNA library preparation for Ion Torrent Sequencing

Joanna Hamilton, PhD, Lynne Apone, PhD, Zach Smith, MS

Joanna Hamilton, PhD, Co-Director, Dartmouth Medical School and the Norris Cotton Cancer Center Lynne Apone, PhD, Application and Product Development Scientist, NEBNext group, New England Biolabs Zach Smith, MS, Senior Applications Scientist, Beckman Coulter, Inc.

Next Generation Sequencing has revolutionized genomic variant discovery. The major bottle-neck for sequencing projects is the individual, biological sample, library preparation. This platform specific addition of adaptor sequences to the target DNA of interest is often technically challenging and manually time-consuming. In the Genomics Shared Resource at the Geisel School of Medicine at Dartmouth, we have recently implemented automation of several of our DNA library preparation procedures in collaboration with Beckman Coulter. The NEBNext Fast Fragmentation Library Preparation for Ion Torrent sequencing was automated on the BioMek 4000 liquid handler. This automation allowed us to increase our turnaround times by 2 fold, and also increased the reproducibility of library preparations, and prevents the need for repeated preparations due to technical errors, which were not present in the automated method. Details of the automation methods, library characteristics and sequencing results will be presented. Additional automated methods have been developed for a custom cancer gene panel and whole exome sequencing libraries, the rationale and details for these will be discussed.

Aug 20, 8:00 AM - 8:30 AM PT

Exploring Complex Structural Genomic Variation using Next-Gen Sequencing

Ryan E Mills, PhD

Assistant Professor, Department of Computational Medicine & Bioinformatics, Assistant Professor, Department of Human Genetics, University of Michigan

Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogenesis of numerous diseases. Many studies have been conducted in the past decade to discover and analyze SVs, however these have predominantly focused on unbalanced (copy number variant) events involving only one or two breakpoints. In contrast, more complex rearrangements resulting from co-occurring or overlapping events involving three or more breakpoints have received considerably less attention or have been incorrectly interpreted. In this presentation, I will outline a strategy we have developed to accurately identify and resolve these events. Our method first identifies regions of the genome suspected to involve a complex event and then delineates putative breakpoints using aberrant sequence alignments. The resulting segments are then iteratively rearranged in a randomized fashion and scored against expected models of sequence characteristics to infer the underlying architecture of these variants. I will discuss the application our algorithm to well-characterized genomes and the comparison of our results to identified complex events in these samples. We believe our approach represents a significant advancement towards resolving these complex chromosomal structural rearrangements and furthering our understanding of their mechanistic origins and functional impact.

Learning Objectives:


Differentiate between types of structural genomic rearrangements
Apply strategies for using sequence data to identify genetic variation

Aug 20, 8:30 AM - 9:30 AM PT

Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)

Vikram Devgan, PhD, MBA

Director, Head of Biological research content, Qiagen, Inc.

Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, certain bottlenecks still pose challenges in implementing NGS for clinical research. To meet these challenges, QIAGEN introduced 14 panels for targeted enrichment of up to 570 clinically-relevant genes, the largest portfolio of panels for assessing cancer genes in a clinical research setting. GeneRead DNAseq Gene Panel V2 integrates with bioinformatics solutions, allowing customization of assays and streamlined data analysis and interpretation for fast generation of valuable insights. This webinar will discuss the utilization of these panels highlighting their analytical performance and applicability in a clinical research setting.

Aug 20, 10:30 AM - 11:30 AM PT

One Platform. Many Analyses.

Sohela Shah, PhD

Field Application Scientist, Ingenuity Systems, a Qiagen company, Neihaus research fellow, Memorial Sloan Kettering Cancer Center

Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for calling variants have greatly improved, biological interpretation remains challenging. Ingenuity Variant Analysis enables rapid identification and prioritization of variants by filtering down to a small, targeted subset using analytical tools and published biological evidence. Here we present four examples of sequence data interpretation, using small or large datasets, for hereditary to large cohort studies, as well as somatic variants analysis.

Aug 21, 6:45 AM - 7:15 AM PT

Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS

Heather McLaughlin, PhD, MB(ASCP)CM

Clinical Molecular Genetics Fellow, Partners HealthCare Personalized Medicine

The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be interpreted with respect to the patients indication for testing. In this presentation we will review how to evaluate population frequencies, conservation analyses, pathogenicity predictions, splicing predictions, and published literature, and learn how to synthesize these data to determine variant classifications. We will also discuss important considerations and common pitfalls in the interpretation process, and learn how to construct variant interpretations for clinical reports.

LEARNER OBJECTIVES:
After completing this activity, the learner will be able to:



Assign a variant classification for a sequence variant
Construct a variant interpretation

Aug 21, 8:45 AM - 9:15 AM PT

Genome and exome sequencing in a clinical laboratory

Matthew Lebo, PhD, FACMG

Director of Bioinformatics, Assistant Laboratory Director, Partners Healthcare, Personalized Medicine, Laboratory for Molecular Medicine, Instructor of Pathology, Brigham and Woman's Hospital, Harvard Medical School

With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very valuable for the diagnosis of rare genetic disorders and a key to a more comprehensive disease treatment. These assays rely heavily on bioinformatics processes, and have unique requirements for implementation and validation., though there are currently limited guidelines for how to handle bioinformatics validation in the clinical lab setting for such complex tests. In this talk, we outline our laboratorys approach to tackling the issues faced in implementing clinical WGES, including methods and techniques to validate the assay and interpret the results. Well also detail our experiences offering WGES in clinical care, including our support of the MedSeq and BabySeq projects that are studying the return of genome and exome sequencing results in adults and newborns, respectively, in both healthy individuals and individuals with disease.

Aug 21, 9:30 AM - 10:30 AM PT

Studying the Transcriptome with Next-Generation Sequencing

Gary Schroth,PhD

Distinguished Scientist, Illumina, Inc.

Next-Generation Sequencing is enabling scientists to study the transcriptome in ways never before possible. During this session with Illumina Distinguished Scientist, Dr. Gary Schroth, you will learn how a variety of RNA-Seq methods can be used to profile subsets of genes or the entire transcriptome (both coding and non-coding). Case studies will be presented for how challenging samples like single-cell and FFPE samples can be elucidated with RNA-Seq technology. Dr. Schroth will also discuss the future state of transcriptome analysis technologies.

Aug 21, 9:45 AM - 10:15 AM PT

Shotgun sequencing enables non-invasive monitoring of infection and rejection in transplantation

Iwijn De Vlaminck, PhD

Postdoctoral researcher, HHMI research associate, Departments of Bioengineering and Applied Physics, Stanford University

Accurate and timely diagnosis of rejection and infection is essential for long-term survival of solid-organ transplant recipients. We evaluated the performance a novel test to monitor rejection and infection through shotgun sequencing of plasma-derived cell-free DNA. We show that an elevated level of donor-derived cell-free DNA correlates with indicators of graft dysfunction and rejection in heart and lung transplantation. We also find a strong correlation between clinical test results and cell-free DNA derived from cytomegalovirus (CMV), the primary infectious disease complication for transplant recipients. We further show that cell-DNA can be used to detect and monitor pathogens that are not routinely screened in the clinic and we show that the composition of viral sequences is highly dynamic and strongly affected by immunosuppressive and antiviral drugs.

Aug 21, 12:15 PM - 1:15 PM PT

A Next-Gen Sequencing Software Workflow for Gene Panel Validation Control

Matthew Keyser, MS

Next-Gen Application Scientist, DNASTAR

DNASTAR offers an integrated suite of software for assembling and analyzing sequence data from all major next-generation sequencing platforms. DNASTAR software supports a variety of key workflows on a desktop computer. A new Gene Panel Validation Control workflow supports several types of data sets, including Ion Torrent AmpliSeqTM Comprehensive Cancer Panel, Illumina TruSight Cancer Panel, as well as custom gene panels and evaluates the efficacy of gene panel targeting and the accuracy of variant calling. The accuracy of gene panel targeting is determined by multiple factors, including specificity of primers and probes used for gene panel design, efficiency of the sequencing technology, accuracy of assembly, accuracy of SNP calling, and the SNP filters applied. DNASTARs SeqMan NGen and ArrayStar programs provide an accurate alignment algorithm and variant caller. They then utilize a validated SNP set in the form of a VCF file and a BED or Manifest file that specify targeted regions, to calculate SNP-calling sensitivity, specificity, and accuracy. By utilizing this workflow, users can ultimately validate their entire process to verify that their known variants are being identified.

Learning objectives:


Have a better understanding of sequence assembly and analysis software
Learn how to validate the entire gene panel process

Aug 21, 12:45 PM - 1:15 PM PT

Predictive and not: understanding the mixed messages of our DNA

Cecile Janssens, PhD

Research Professor of Epidemiology, Emory University

When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically change. The information that is obtained from sequencing is much more complex than the results of traditional genetic testing: where traditionally a test is undertaken to inform a single health outcome, genome sequencing can inform the diagnosis of, or susceptibility to, numerous diseases.

Genome sequencing is envisioned to ultimately replace conventional forms of genetic testing. This prospect has already led to an intense debate on what to do with the remaining unreported data, how to deal with issues around privacy, discrimination, insurability, and patient and consumer protection.

The opportunities for the return of incidental findings, discrimination and stigmatization depend on the predictive ability of a test. Therefore, the discussion of these concerns in the context of sequencing should start from a critical assessment of the predictive ability of DNA, which is paramount because the genome does not have an overall predictive ability as such. Rather, genome sequencing should be seen as one assay that consists of numerous tests. The predictive ability depends on what is predicted, in whom and how (using which specific information from the DNA).

For a constructive debate on ethical and societal issues, health care professionals, policy makers, legislators and the public need to be aware of the possibilities and limitations of sequencing. A good understanding of what can (and cannot) be predicted from our DNA is necessary to ensure a responsible introduction of genome sequencing in health care and an effective regulation of commercial DNA testing. This presentation provides a concise explanation on how DNA can be both predictive for some diseases and not predictive for others.

Synthetic and Systems Biology-+

Aug 20, 8:45 AM - 9:15 AM PT

Digitizing Life Using Synthetic Genomics

John Glass, PhD

Senior Scientist, Synthetic Biology Group, J. Craig Venter Institution

In 2010, our team of synthetic biologists announced the creation of a bacterial cell that had a chemically synthesized genome. To build this synthetic Mycoplasma mycoides JCVI 1.0 we had to develop two sets of methods. The path to develop what we believe will be the foundation technologies of the field of Synthetic Genomics took ~150 man year and many twists and turns. We made the 1.1 Mbp M. mycoides genome using a series of new techniques for assembly of DNA molecules in vivo in yeast cells and in vitro. This process we called Genome Assembly. The other new technical repertoire is Genome Transplantation. We isolated our synthetic genome, which was cloned as a yeast artificial chromosome, and installed it into cells of a closely related bacterial species. We are currently eliminating all the genes in this organism not essential for growth in the laboratory. We expect to produce a cell with less than 400 protein-coding genes. This minimal bacterium will likely have about 100 genes of unknown function, and most of those will have homologous genes in most other bacteria. We plan to use this simple organism to investigate the fundamental principles of cellular life. The Synthetic Genomics technology developed from this effort will enable biologists to build both microbes as well as eukaryotic cells capable of solving human needs in medicine, bioenergy and industry. For instance we envision the same Genome Assembly and Genome Transplantation technologies used to build synthetic microbial cells could be used to make human artificial chromosomes and install them in cells for therapeutic and research purposes.

Bioinformatics and Quantitative Genomics

12:30 PM - 1:30 PM PT

Integrative Systems Approaches to Network Modeling of Biological Processes

John Quackenbush, PhD

Professor of Computational Biology and Bioinformatics, Department of Biostatistics, Harvard University, Dana-Farber Cancer Institute


Cancer Genetics

10:45 AM - 11:15 AM PT

OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection

Padma Sundar, MBA, MPH

Director of OncoScan Product Marketing Strategy, Affymetrix

A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tumors, driven by somatic mutations. The C class tumors were ovarian cancer, breast cancer, squamous cell lung cancer and head and neck cancers. Prostate cancer is also believed to be a C class tumor. The publication also listed 23 actionable copy number alterations that are targetable based on currently available therapies.
NGS based technologies are not cost effective for the detection copy number changes in heterogeneous, solid tumor FFPE samples owing to the high depth of sequencing required to detect CNV in this sample type.
In this talk, the presenter will describe the Molecular Inversion Probes (MIP) technology, for the detection of genome wide copy number changes, with high resolution in ~900 cancer genes, using less 80ng of DNA from formalin fixed paraffin embedded (FFPE) samples such as those from biopsies, ,There have been over 100 publications in the last two years using the MIP based OncoScan Assay. She will present on some key publications using the platform.
She will also share case studies across several solid tumors, where actionable copy number alterations were observed in patients who had no actionable somatic mutations, and thus emphasize the need for a reliable copy number platform for solid tumors to complement next generation sequencing based somatic mutations panels offered by many CLIA certified laboratories.
1. Ciriello G., et al. Emerging landscape of oncogenic signatures across human cancers. Nature Genetics 45(10):1127−1133 (2013). doi: 10.1038/ng.2762.
2. Huw L., et al. Acquired PIK3CA amplification causes resistance to selective phosphoinositide 3-kinase inhibitors in breast cancer. Oncogenesis 2:e83 (2013). doi: 10.1038/oncsis.2013.46.

Cell Biology

7:15 AM - 7:45 AM PT

Establishing cell-free biology for the production of therapeutics, materials, and chemicals

Michael C Jewett, PhD

Assistant Professor of Chemical and Biological Engineering, Northwestern University

Imagine a world in which we could adapt biology to manufacture any therapeutic, material, or chemical from renewable resources, both quickly and on demand. Industrial biotechnology is one of the most attractive approaches for addressing this need, particularly when large-scale chemical synthesis is untenable. Unfortunately, the fraction of biobased products amenable to economical production is limited because engineering whole-cell microorganisms with synthetic pathways remains costly and slow. We hypothesize that a key problem to these efforts lies with the inherent limitations imposed by cells. Microbial cells exist to produce more cells, not to produce items of commerce, which often are an unnecessary or even toxic burden on the primary cellular objectives of growth and adaptation. This leads to a variety of challenges afflicting the current state-of-the-art, including: low yields and productivities, build-up of toxic intermediates or products, and byproduct losses via competing pathways. To overcome these limitations, we are expanding the scope of the traditional engineering model in biotechnology by using cell-free systems to harness ensembles of catalytic proteins prepared from crude lysates, or extracts, of cells for the production of target products. Rather than attempt to balance the tug-of-war between the cells objectives and the engineers objectives, we are developing new paradigms for designing, building, and testing cell-free systems that harness and modify biological systems involved in protein synthesis and metabolism. In this presentation, I will discuss our efforts to develop cost-effective, high-throughput cell-free protein synthesis platforms, expand the chemistry of life using non canonical amino acids, construct and evolve synthetic ribosomes, and produce sustainable chemicals with ultrahigh productivities. Our work is enabling a deeper understanding of why natures designs work the way they do and opening new frontiers for biomanufacturing.

Gene Expression

2:15 PM - 2:45 PM PT

Identifying transcriptional regulators of human embryonic development via expression variability

Jessica C Mar, PhD

Assistant Professor, Department of Systems & Computational Biology, Assistant Professor, Department of Epidemiology & Population Health, Albert Einstein College of Medicine

Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability of gene expression reflects how consistent expression levels are between cells of the same embryo. An analysis of expression variability can therefore identify which genes are consistently or heterogeneously expressed in a population of cells, and provides a window into regulatory control. Using an analysis of previously published single-cell RNA-seq data set on embryos at collected at different developmental stages, we have identified a putative set of gene expression markers of morulae and blastocyst stages based on changes in intercellular variability. We highlight how genes with extreme levels of variability are enriched for distinct functions and pathways; lowly variable genes operate in maintenance pathways such as protein synthesis, gene expression and cell cycle while highly variable genes tend to be involved in metabolism. Our results suggest that genes with critical and survival roles for the cell are expressed stably while those related to specialized functions are have variable inter-cellular expression. We identified genes with invariant expression across the development stages; such genes fall clearly into three categories of modes corresponding to off, on and highly activated levels of expression. Genes switched on are involved in critical regulatory pathways like EIF2 signaling, protein ubiquitination and mTOR signaling. Genes that are consistently off function in the development of specialized cell types and metabolites. Overall, our analysis suggests new regulators involved in controlling the development of human embryos that would have otherwise been missed using methods that focus on average expression levels and highlight the value in studying expression variability.

Genetic Counceling, FDA, Regulatory, Law

11:45 AM - 12:15 PM PT

Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward

Ellen T Matloff, MS, CGC

Founder and CEO, Gene Counsel

The unanimous Supreme Court ruling of 2013 regarding gene patents made competition for BRCA1 and BRCA2 testing a reality. Within hours of the decision multiple labs began offering more comprehensive BRCA testing at lower prices. Most of these laboratories also offered BRCA1 and 2 on a panel with many genes involved in cancer development. Most of these genes are lesser studied and understood than BRCA1 and 2 and often include variants of uncertain significance. Deciphering if a mutation is clinically relevant, how that patient should be followed, if the genetic finding is actually responsible for the cancers in the family and segregates with disease, and determining whether carrier status is important to the surveillance, chemoprovention and prophylactic surgery recommendations made to the patient has greatly increased the complexity of the field. All of this information will be discussed as well as what we can expect from the field as whole-exome sequencing becomes a clinical reality.

Genetic Testing

8:45 AM - 9:15 AM PT

Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic

Dani Bercovich, PhD

Professor, Scientific Director, Head of MSc program in Biotechnology, Tel Hai College, GGA - Galil Genetic Analysis

The flexibility of the BioMark Real-Time PCR System, allow us to preform genetic research using different types of nano-fluidic (48.48 or 96.96) chips setup, in the thermal cycle of these chips and image the data in real time for quantity determination of DNA copy numbers (CNV) or mRNA expression in multiple loci locations or genes, and can also to be used as an endpoint image reader for analyzing different allelic genotyping frequencies like in a panel of 92 most common mutations, in the Israeli populations, for 42 different mono genetic disorders, and 15-14 common mutations in Breast/Ovarian and Colon cancers.
Digital-PCR gene chip were used to determine the number of a human gene which were incorporated in a plant cells for the production of this protein to treat human disease. CGH array and next-generation sequencing (NGS) technologies has reduced sequencing cost by orders of magnitude and significantly increased the throughput, making whole-exom sequencing a possible way for obtaining global genomic information about patients on whom clinical actions may be taken and were used to locate new genes associated with complex clinical genetic diseases. Tumors genetic is define using OnocoScan gene chip and the nano-fluidic gene chips by RT-PCR reactions on several most common somatic mutations to define most suitable chemotherapy treatments in different cancers types.

11:45 AM - 12:15 PM PT

Ethical, Legal and Social Issues of Direct-to-Consumer Genetic Testing

Heidi C Howard, PhD

Senior Researcher, Uppsala University, Centre for Research Ethics & Bioethics

Direct-to-consumer (DTC) genetic testing can be understood as including two related aspects: first, the advertising of genetic tests directly to consumers; and second, the direct access or ordering of genetic tests outside of the traditional healthcare setting and often without the intermediate of a healthcare professional. The types of tests sold by these companies include single gene tests, multiple genes tests and genome-wide-testing also known as personal genome scanning, whereby hundreds of thousands to millions of genetic markers (often single nucleotide polymorphisms) are tested throughout the genome. Although not so common, some companies are also now selling whole genome and whole exome sequencing DTC. Although the majority of the popular media coverage and much of the academic debates have focussed on companies selling genome-wide-testing services (from companies such as 23andMe, and in the past deCODE and Navigenics), there are also many DTC genetic testing companies that do not sell this type of testing. Also contributing to the variation in the DTC genetic testing market is the great deal of variation regarding the purpose of the tests on offer; for example, different tests can provide information regarding ancestry, carrier status, disease risk (presymptomatic, prenatal, susceptibility), nutrigenomics or pharmacogenomics. The advent of this commercial offer of genetic testing, raises some new and not so new ethical, legal and social issues (ELSI). In this presentation, I will describe the phenomena of DTC genetic testing, present what advocates and critiques have to say about this offer, and discuss the ELSI.

Genetic and Genomic Medicine

10:45 AM - 11:15 AM PT

The Impact of the $1000 Genome on Medicine

Shawn Baker, PhD

CEO, CSO and Co-Founder, AllSeq, Inc.


Human Genetics

8:00 AM - 8:30 AM PT

High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers

David E Symer, MD, PhD

Assistant Professor Department of Molecular Virology, Immunology and Medical Genetics, Assistant Professor, Division of Hematology, Department of Internal Medicine, Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center

One of the hallmarks of human cancers is genetic instability. My colleagues and I recently identified a remarkable association between human papillomavirus (HPV) and genomic structural variation in flanking host genomic DNA, both in human cancer cell lines and primary tumors. A combination of whole-genome sequencing and other molecular assays revealed HPV integrants frequently adjacent to and bridging extensively amplified and rearranged genomic sequences, including deletions, inversions, and chromosomal translocations. We developed a model of looping to explain these data. Our model suggests that HPV integrant-mediated DNA replication and recombination may result in viralhost DNA concatemers, frequently disrupting genes involved in oncogenesis and amplifying the HPV oncogenes E6 and E7. Using innovative new long-range deep sequencing methods, we currently are characterizing in detail these genomic structural variants, induced by HPV integration in primary human cancers. Use of such high-resolution genomics methods has shed new light on a catastrophic process, distinct from chromothripsis and other mutational processes, by which HPV can induce genomic instability and disrupt candidate cancer-causing genes.

11:30 AM - 12:30 PM PT

More Comprehensive Views of Human Genetic Variation

Jonas Korlach, PhD

Chief Scientific Officer, Pacific Biosciences

High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of all variant bases are contained in larger, structural genome changes; this non-SNP DNA variation accounts for ~20-25% of all genetic variation events. These types of variation are more difficult to address with short-read sequencing because of its read length limitations. Structural genomic variation plays important roles in numerous diseases, e.g. many repeat expansion disorders such as fragile X syndrome (the most common heritable form of cognitive impairment), variable number tandem repeat (VNTR) disorders, or structural breakpoints in cancer, to name just a few.
In my talk, I will highlight how multi-kilobase reads from PacBio sequencing can resolve many of these previously considered 'difficult-to-sequence' genomic regions. The long reads also allow phasing of the sequence information along the maternal and paternal alleles, which I will exemplify by full-length, fully phased HLA class I & II gene sequencing. In addition, characterizing the complex landscape of alternative gene products is currently very difficult with short-read sequencing technologies, and I will describe how long-read, full-length mRNA sequencing can be used to describe the diversity of transcript isoforms, with no assembly required. Lastly, in the exciting area of gene therapy, I will highlight how long PacBio reads can more accurately and efficiently measure outcomes of genome editing studies.

Human Genome

7:00 AM - 7:30 AM PT

Human Genome Analysis

Mark B Gerstein, PhD

Albert L. Williams Professor of Biomedical Informatics, Co-Director, Yale Computational biology and Bioinformatics Program, Yale University

The ENCODE and modENCODE consortia have generated a resource containing large amounts of transcriptomic data, extensive mapping of chromatin states, as well as the binding locations of >300 transcription factors (TFs) for human, worm and fly. We performed extensive data integration by constructing genome-wide co-expression networks and transcriptional regulatory models, revealing fundamental principles of transcription conserved across the three highly divergent animals.
In particular, we found the gene expression levels in the organisms, both coding and non-coding, can be predicted consistently based on their upstream histone marks. In fact, a "universal model" with a single set of cross-organism parameters can predict expression level for both protein coding genes and ncRNAs. Carrying out the same type of "predictions" for TFs, we found that information in their binding is more localized to near the TSS region than that of histone marks but is largely redundant with that of the marks.
Surprisingly, only a small number of TFs are necessary in the models to successfully predict expression (e.g. ~5 of the >1000 in human).

Keynote

6:00 AM - 7:00 AM PT

Keynote: Delivering on the promise of personalized medicine

Gordon B Mills, MD, PhD

Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center


Precision Medicine

6:00 AM - 7:00 AM PT

The realization of the promise of personalized molecular medicine requires efficient development and implementation of novel targeted therapeutics lin

Gordon B Mills, MD, PhD

Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center


Sequencing

7:30 AM - 8:30 AM PT

Panel Discussion: Increasing productivity and reproducibility by automating DNA library preparation for Ion Torrent Sequencing

Joanna Hamilton, PhD, Lynne Apone, PhD, Zach Smith, MS

Joanna Hamilton, PhD, Co-Director, Dartmouth Medical School and the Norris Cotton Cancer Center Lynne Apone, PhD, Application and Product Development Scientist, NEBNext group, New England Biolabs Zach Smith, MS, Senior Applications Scientist, Beckman Coulter, Inc.

Next Generation Sequencing has revolutionized genomic variant discovery. The major bottle-neck for sequencing projects is the individual, biological sample, library preparation. This platform specific addition of adaptor sequences to the target DNA of interest is often technically challenging and manually time-consuming. In the Genomics Shared Resource at the Geisel School of Medicine at Dartmouth, we have recently implemented automation of several of our DNA library preparation procedures in collaboration with Beckman Coulter. The NEBNext Fast Fragmentation Library Preparation for Ion Torrent sequencing was automated on the BioMek 4000 liquid handler. This automation allowed us to increase our turnaround times by 2 fold, and also increased the reproducibility of library preparations, and prevents the need for repeated preparations due to technical errors, which were not present in the automated method. Details of the automation methods, library characteristics and sequencing results will be presented. Additional automated methods have been developed for a custom cancer gene panel and whole exome sequencing libraries, the rationale and details for these will be discussed.

8:00 AM - 8:30 AM PT

Exploring Complex Structural Genomic Variation using Next-Gen Sequencing

Ryan E Mills, PhD

Assistant Professor, Department of Computational Medicine & Bioinformatics, Assistant Professor, Department of Human Genetics, University of Michigan

Structural variants (SVs), defined as the deletion, duplication, insertion, inversion or translocation of genomic regions, are both a major source of genetic diversity in human populations and are also directly responsible for the pathogenesis of numerous diseases. Many studies have been conducted in the past decade to discover and analyze SVs, however these have predominantly focused on unbalanced (copy number variant) events involving only one or two breakpoints. In contrast, more complex rearrangements resulting from co-occurring or overlapping events involving three or more breakpoints have received considerably less attention or have been incorrectly interpreted. In this presentation, I will outline a strategy we have developed to accurately identify and resolve these events. Our method first identifies regions of the genome suspected to involve a complex event and then delineates putative breakpoints using aberrant sequence alignments. The resulting segments are then iteratively rearranged in a randomized fashion and scored against expected models of sequence characteristics to infer the underlying architecture of these variants. I will discuss the application our algorithm to well-characterized genomes and the comparison of our results to identified complex events in these samples. We believe our approach represents a significant advancement towards resolving these complex chromosomal structural rearrangements and furthering our understanding of their mechanistic origins and functional impact.

Learning Objectives:


Differentiate between types of structural genomic rearrangements
Apply strategies for using sequence data to identify genetic variation

8:30 AM - 9:30 AM PT

Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)

Vikram Devgan, PhD, MBA

Director, Head of Biological research content, Qiagen, Inc.

Next-generation sequencing (NGS) has revolutionized extraction of genomic information, facilitating rapid advances in the fields of clinical research and molecular diagnostics. However, certain bottlenecks still pose challenges in implementing NGS for clinical research. To meet these challenges, QIAGEN introduced 14 panels for targeted enrichment of up to 570 clinically-relevant genes, the largest portfolio of panels for assessing cancer genes in a clinical research setting. GeneRead DNAseq Gene Panel V2 integrates with bioinformatics solutions, allowing customization of assays and streamlined data analysis and interpretation for fast generation of valuable insights. This webinar will discuss the utilization of these panels highlighting their analytical performance and applicability in a clinical research setting.

10:30 AM - 11:30 AM PT

One Platform. Many Analyses.

Sohela Shah, PhD

Field Application Scientist, Ingenuity Systems, a Qiagen company, Neihaus research fellow, Memorial Sloan Kettering Cancer Center

Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for calling variants have greatly improved, biological interpretation remains challenging. Ingenuity Variant Analysis enables rapid identification and prioritization of variants by filtering down to a small, targeted subset using analytical tools and published biological evidence. Here we present four examples of sequence data interpretation, using small or large datasets, for hereditary to large cohort studies, as well as somatic variants analysis.

Synthetic and Systems Biology

8:45 AM - 9:15 AM PT

Digitizing Life Using Synthetic Genomics

John Glass, PhD

Senior Scientist, Synthetic Biology Group, J. Craig Venter Institution

In 2010, our team of synthetic biologists announced the creation of a bacterial cell that had a chemically synthesized genome. To build this synthetic Mycoplasma mycoides JCVI 1.0 we had to develop two sets of methods. The path to develop what we believe will be the foundation technologies of the field of Synthetic Genomics took ~150 man year and many twists and turns. We made the 1.1 Mbp M. mycoides genome using a series of new techniques for assembly of DNA molecules in vivo in yeast cells and in vitro. This process we called Genome Assembly. The other new technical repertoire is Genome Transplantation. We isolated our synthetic genome, which was cloned as a yeast artificial chromosome, and installed it into cells of a closely related bacterial species. We are currently eliminating all the genes in this organism not essential for growth in the laboratory. We expect to produce a cell with less than 400 protein-coding genes. This minimal bacterium will likely have about 100 genes of unknown function, and most of those will have homologous genes in most other bacteria. We plan to use this simple organism to investigate the fundamental principles of cellular life. The Synthetic Genomics technology developed from this effort will enable biologists to build both microbes as well as eukaryotic cells capable of solving human needs in medicine, bioenergy and industry. For instance we envision the same Genome Assembly and Genome Transplantation technologies used to build synthetic microbial cells could be used to make human artificial chromosomes and install them in cells for therapeutic and research purposes.

Bioinformatics and Quantitative Genomics

6:45 AM - 7:15 AM PT

Development and Applications of CRISPR-Cas9 for Genome Editing

Feng Zhang, PhD

Core Faculty Member, The Broad Institute of MIT/Harvard, Investigator, McGovern Institute for Brain Research, W.M. Keck Career Development Professor of Biomedical Engineering Assistant Professor, Department of Brain and Cognitive Sciences

The Cas9 endonuclease from the microbial adaptive immune system CRISPR can be easily programmed to bind or cleave specific DNA sequence using a short RNA guide. Cas9 is enabling the generation of more realistic disease models and is broadening the number of genetically-tractable organisms that can be used to study a variety of biological processes. The Cas9 nuclease can also be modified to modulate transcription, alter epigenetic states, and track the dynamics of chromatin in living cells. In this presentation we will look at the latest developments and applications of the Cas9 nuclease for understanding the function of the mammalian genome. We will also look at the on-going challenges as well as future prospects of the technology.

2:30 PM - 3:00 PM PT

Integrating patient specific information in rare disorder analysis

Asif Javed, PhD

Research Associate, Genome Institute of Singapore (GIS), A*STAR

Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the need for new discovery tools interrogating both coding and non-coding regions. We introduce Phen-Gen, which combines patients disease symptoms and sequencing data with prior domain knowledge in a holistic prediction to identify the causative gene(s). Phen-Gen works with both exome and whole genome sequencing data and has been evaluated in extensive simulations as well as real datasets.

Clinical Genomics

8:45 AM - 9:15 AM PT

Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings

Jimmy Lin, MD, PhD, MHS

Founder & President, Rare Genomics Institute, School Faculty Member, Washington University in St. Louis

Whole genomic and exomics sequencing applied clinically is revealing newly discovered genes and syndromes at an astonishing rate. While clinical databases and variant annotation continue to grow, much of the effort needed is functional analysis and clinical correlation. At RGI, we are building a comprehensive functional genomics platform that includes electronic health records, biobanking, data management, scientific idea crowdsourcing and contract research sourcing.

Complex Diseases

9:45 AM - 10:15 AM PT

Pathway based analyses for genetic susceptibility to cancer and autoimmune disease

Christopher I Amos, PhD

Associate Director for Population Sciences, Professor of Community and Family Medicine at the Geisel School of Medicine, Norris Cotton Cancer Center, Dartmouth College

In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimmune diseases. The goal of this research has been to identify sets of genes that influence disease risk using extensive data that have been developed by collaborative studies. These studies involve research groups from multiple locations across the world, which raises issues about joint analysis of the data. Rather, we adopt an approach in which analyses are performed by center and then merged, to perform first pass meta-analyses. Additionally, we apply novel approaches to organizing the data into pathways while allowing for correlations among markers to reduce discovery of false positive findings. Results from applications to lung cancer and selected autoimmune diseases will be described.

11:30 AM - 12:30 PM PT

Understanding the Genetics of Common Disease: Using Big Data approaches to see the emergent whole

Kenneth Buetow, PhD, FACMI

Director of Computational Sciences and Informatics Program for Complex Adaptive Systems, Professor, the School of Life Sciences, Arizona State University

The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and prevention. These technologies identify the millions of variants present in normal individuals and thousands of alterations that occur during the course of tumor development. This systems-wide molecular analysis has identified a complex cacophony of inherited and acquired variation. The integration and interpretation of this complex multidimensional information into evidence exceeds raw human cognitive capacity. It presents challenges of contextualizing the data and converting it into actionable information.

Data Science has the capacity to provide the needed tools to tackle this challenge. Arizona State Universitys (ASU) Complex Adaptive Systems team is building a first generation Data Science research platform - the Next Generation Cyber Capability (NGCC). The ASU NGCC composed of hardware, software, and people transforms Big Data to information and creates the evidence necessary to enable personalized medicine. The NGCC permits data points to be evaluated in concert using Big Data analytic frameworks thereby identifying an emergent, coherent whole. Biologic network analysis represents one such promising integrative approach. These networks account for the individual heterogeneity in underlying etiology as well as the interaction of diverse events necessary to generate a complex phenotype such as cancer. Emerging collections of analytic approaches permit analysis using genome-wide data sets and established biologic networks as models.

These approaches are being applied to understand the origins and outcomes of cancer. Big Data approaches are identifying key biologic processes underpinning cancer susceptibility and oncogenesis. Novel analytic approaches are being applied to identify new strategies for intervention.

Gene Expression

6:00 AM - 6:30 AM PT

Landscape and variation of RNA secondary structures in the human transcriptome

Yue Wan, PhD

GIS fellow, Genome Institute of Singapore, A*STAR, Genome Institute of Singapore


3:00 PM - 4:00 PM PT

Unexpected Findings from Analysis of Complex Mammalian Transcriptomes

Piero Carninci, PhD

Director, Division of Genomic Technologies, RIKEN Center for Life Science Technologies


Gene Therapy

8:45 AM - 9:15 AM PT

From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study

Luk H Vandenberghe, PhD

Assistant Professor, Harvard Medical School, Assistant Scientist, Schepens Eye Research Institute, Massachusetts Eye and Ear

Gene therapy for two forms of inherited retinal degeneration have met promising safety and efficacy endpoints in early stage clinical trials. These approaches made use of a replication defective virus or vector based on the adeno-associated virus type 2 (AAV2), a small non enveloped ssDNA virus endemic in human population. AAV2 targets the retinal pigment epithelium (RPE) at high efficiency in small and large animal models, which is the primary target in these studies. Retinal disease however has a range of etiologies and cell types at the basis of its pathogenesis, and a broader set of tools to deliver therapeutic genes to the retina is required. Here, we describe our past and current efforts to develop novel vectors and therapeutic strategies to unlock genetic treatment for retinal blinding disorders.

Genetic Counceling, FDA, Regulatory, Law

10:45 AM - 11:15 AM PT

The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine

Colleen Campbell, PhD

Assistant Director, University of Iowa - Iowa Institute for Human Genetics

For personalized genomic medicine (PGM) to be readily adopted into clinical practice, there is a need for a multidisciplinary team, and a need to educate health care professionals and the general public about genomics. The Iowa Institute of Human Genetics (IIHG) currently offers several PGM tests including a pharmacogenomic test for clopidogrel and clinical whole exome sequencing. Through our experience we have learned there are many challenges to implementing an institutional genomic medicine program such as; delivery of accurate and timely genomic test results in a cost-effective and high-throughput manner; rapid ways to analyze and store clinical genomic data, a reliable variant database for data interpretation; integration of genetic results in the electronic medical record; and limited insurance reimbursement of genomic testing. In addition, the fields of genetics and genomics are changing at such a rapid pace, and most practicing health care providers did not have this information as part of their training.
Genetic counselors are members of the health care team with specialized training in medical genetics and counseling who communicate scientific information in plain language, provide risk assessment, education, and support to patients with genetic conditions and their families. With these skills, genetic counselors are poised to take an active role in the incorporation of genomic medicine into non-genetics specialties, and participate in the development of solutions to the challenges facing PGM. They can also promote public awareness and engagement in genomics, and work with regulatory, funding, and legislative organizations to educate members of these groups about the impact and use of PGM to aid in increased reimbursement of genomic testing. In this presentation, the current state of PGM in Iowa will be discussed along with the areas in which genetic counselors can aid in the implementation of institutional personalized genomic medicine programs.

Genetic Testing

11:30 AM - 12:15 PM PT

Automation of High Throughput Agarose Gel Electrophoresis with the NIMBUS Select Featuring Ranger Technology

Matthew Nesbitt, MSc

President, Coastal Genomics

Coastal Genomics and the Hamilton Company have teamed up to combine the NIMBUS 96 channel platform with Ranger Technology to automate high throughput agarose gel electrophoresis. The new NIMBUS Select workstation can be used to conduct accurate size selection or as an analytical platform for the generation of electropherograms. The related consumables offered by Coastal Genomics are inexpensive, while the 96 channel NIMBUS Select offers high sample capacity up to 96 samples can be size selected in a 2 hour run. Additionally, the workstation can be leveraged as a standard 96 channel instrument when not in use for agarose gel electrophoresis. This presentation will outline the method of operation, level of automation, and exciting performance metrics of the NIMBUS Select workstation.

Keynote

7:30 AM - 8:30 AM PT

Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing

Robert Nussbaum, MD

Professor, Department of Medicine, Chief, Division of Medical Genetics, Holly Smith Distinguished Professorship in Science and Medicine, University of California, San Francisco Helen Diller Family Comprehensive Cancer Center


11:15 AM - 12:15 PM PT

Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges

Bruce R Korf, MD, PhD

Wayne H. and Sara Crews Finley Chair of Medical Genetics, Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham

Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the rapid introduction of sequencing-based testing into the clinic. Genomics has already changed our approach to prevention, diagnosis, and treatment of disease; the day is not far off when most medical decisions will be to some extent informed by the outcome of a genetic or genomic test. Most practicing physicians were trained well prior to the genomic era, and even those who remember what they were taught about genetics will find that the field has changed beyond recognition. Although some of the genomics applications will be mediated through point-of-care decision support systems, there is a need for physicians to gain competency in multiple areas of genetic and genomic medicine. This includes use and interpretation of genetic and genomic predictive and diagnostic tests, using pharmacogenetic information to adjust drug administration, and customizing treatment to specific subtypes of disease defined by genetic testing. Physicians will also need to be able to incorporate the results of genome sequencing, including responding to incidental findings of genetic changes that indicate risk of disease. These educational challenges will need to be met for physicians in training and in practice, and will require the use of multiple educational modalities, including use of approaches such as online courses and case studies. Genetics and genomics may also be built into the maintenance of certification requirements in many specialty areas. A framework for development of physician competencies in genomic medicine has been formulated, which may facilitate the process of educating non-genetics physicians about genetics and genomics. There is a great need for innovative approaches to genetics and genomics education that will prepare physicians and other health providers.

Sequencing

6:45 AM - 7:15 AM PT

Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS

Heather McLaughlin, PhD, MB(ASCP)CM

Clinical Molecular Genetics Fellow, Partners HealthCare Personalized Medicine

The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be interpreted with respect to the patients indication for testing. In this presentation we will review how to evaluate population frequencies, conservation analyses, pathogenicity predictions, splicing predictions, and published literature, and learn how to synthesize these data to determine variant classifications. We will also discuss important considerations and common pitfalls in the interpretation process, and learn how to construct variant interpretations for clinical reports.

LEARNER OBJECTIVES:
After completing this activity, the learner will be able to:



Assign a variant classification for a sequence variant
Construct a variant interpretation

8:45 AM - 9:15 AM PT

Genome and exome sequencing in a clinical laboratory

Matthew Lebo, PhD, FACMG

Director of Bioinformatics, Assistant Laboratory Director, Partners Healthcare, Personalized Medicine, Laboratory for Molecular Medicine, Instructor of Pathology, Brigham and Woman's Hospital, Harvard Medical School

With advances in next-generation sequencing, whole-exome and genome sequencing (WGES) is now accessible as a tool in many applications. In the clinical setting, WGES is proving to be very valuable for the diagnosis of rare genetic disorders and a key to a more comprehensive disease treatment. These assays rely heavily on bioinformatics processes, and have unique requirements for implementation and validation., though there are currently limited guidelines for how to handle bioinformatics validation in the clinical lab setting for such complex tests. In this talk, we outline our laboratorys approach to tackling the issues faced in implementing clinical WGES, including methods and techniques to validate the assay and interpret the results. Well also detail our experiences offering WGES in clinical care, including our support of the MedSeq and BabySeq projects that are studying the return of genome and exome sequencing results in adults and newborns, respectively, in both healthy individuals and individuals with disease.

9:30 AM - 10:30 AM PT

Studying the Transcriptome with Next-Generation Sequencing

Gary Schroth,PhD

Distinguished Scientist, Illumina, Inc.

Next-Generation Sequencing is enabling scientists to study the transcriptome in ways never before possible. During this session with Illumina Distinguished Scientist, Dr. Gary Schroth, you will learn how a variety of RNA-Seq methods can be used to profile subsets of genes or the entire transcriptome (both coding and non-coding). Case studies will be presented for how challenging samples like single-cell and FFPE samples can be elucidated with RNA-Seq technology. Dr. Schroth will also discuss the future state of transcriptome analysis technologies.

9:45 AM - 10:15 AM PT

Shotgun sequencing enables non-invasive monitoring of infection and rejection in transplantation

Iwijn De Vlaminck, PhD

Postdoctoral researcher, HHMI research associate, Departments of Bioengineering and Applied Physics, Stanford University

Accurate and timely diagnosis of rejection and infection is essential for long-term survival of solid-organ transplant recipients. We evaluated the performance a novel test to monitor rejection and infection through shotgun sequencing of plasma-derived cell-free DNA. We show that an elevated level of donor-derived cell-free DNA correlates with indicators of graft dysfunction and rejection in heart and lung transplantation. We also find a strong correlation between clinical test results and cell-free DNA derived from cytomegalovirus (CMV), the primary infectious disease complication for transplant recipients. We further show that cell-DNA can be used to detect and monitor pathogens that are not routinely screened in the clinic and we show that the composition of viral sequences is highly dynamic and strongly affected by immunosuppressive and antiviral drugs.

12:15 PM - 1:15 PM PT

A Next-Gen Sequencing Software Workflow for Gene Panel Validation Control

Matthew Keyser, MS

Next-Gen Application Scientist, DNASTAR

DNASTAR offers an integrated suite of software for assembling and analyzing sequence data from all major next-generation sequencing platforms. DNASTAR software supports a variety of key workflows on a desktop computer. A new Gene Panel Validation Control workflow supports several types of data sets, including Ion Torrent AmpliSeqTM Comprehensive Cancer Panel, Illumina TruSight Cancer Panel, as well as custom gene panels and evaluates the efficacy of gene panel targeting and the accuracy of variant calling. The accuracy of gene panel targeting is determined by multiple factors, including specificity of primers and probes used for gene panel design, efficiency of the sequencing technology, accuracy of assembly, accuracy of SNP calling, and the SNP filters applied. DNASTARs SeqMan NGen and ArrayStar programs provide an accurate alignment algorithm and variant caller. They then utilize a validated SNP set in the form of a VCF file and a BED or Manifest file that specify targeted regions, to calculate SNP-calling sensitivity, specificity, and accuracy. By utilizing this workflow, users can ultimately validate their entire process to verify that their known variants are being identified.

Learning objectives:


Have a better understanding of sequence assembly and analysis software
Learn how to validate the entire gene panel process

12:45 PM - 1:15 PM PT

Predictive and not: understanding the mixed messages of our DNA

Cecile Janssens, PhD

Research Professor of Epidemiology, Emory University

When whole genome and whole exome sequencing are introduced into health care, and offered directly to consumers in commercial settings, the landscape of genetic testing will drastically change. The information that is obtained from sequencing is much more complex than the results of traditional genetic testing: where traditionally a test is undertaken to inform a single health outcome, genome sequencing can inform the diagnosis of, or susceptibility to, numerous diseases.

Genome sequencing is envisioned to ultimately replace conventional forms of genetic testing. This prospect has already led to an intense debate on what to do with the remaining unreported data, how to deal with issues around privacy, discrimination, insurability, and patient and consumer protection.

The opportunities for the return of incidental findings, discrimination and stigmatization depend on the predictive ability of a test. Therefore, the discussion of these concerns in the context of sequencing should start from a critical assessment of the predictive ability of DNA, which is paramount because the genome does not have an overall predictive ability as such. Rather, genome sequencing should be seen as one assay that consists of numerous tests. The predictive ability depends on what is predicted, in whom and how (using which specific information from the DNA).

For a constructive debate on ethical and societal issues, health care professionals, policy makers, legislators and the public need to be aware of the possibilities and limitations of sequencing. A good understanding of what can (and cannot) be predicted from our DNA is necessary to ensure a responsible introduction of genome sequencing in health care and an effective regulation of commercial DNA testing. This presentation provides a concise explanation on how DNA can be both predictive for some diseases and not predictive for others.

Genetics and Genomics

Continuing Education Credits

Please locate the speakers and presentation you watched and looking to earn your CME or CE credits. For presentations accredited for ACCENT credit only, click on the link provided and you will be directed to the AACC website. You will be asked to enter a log-in number and password. If you don't already have a log-in number with AACC, simply create an account to obtain your log-in number and create a password. Follow that link to complete the test or evaluation form.

For presentations accredited for both CME and ACCENT credit, you will first be required to complete a short quiz before claiming your continuing education credits. The quiz takes only about 5 minutes to complete and contains 3 or 4 multiple-choice or true/false questions about the presentation. After passing the quiz, you will be directed to the AACC website as described above.

The National Society of Genetic Counselors (NSGC) has authorized LabRoots, Inc BioConference Live to offer up to 3.0 CEUs or 30.0 contact hours (Category 1) for the BioConference Live, Genetics and Genomics Course. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of certification and recertification.

For presentations accredited for CEU, the National Society of Genetic Counselors (NSGC) offers one CEU for every ten hours of participation. One contact hour is equal to one 60 minute hour of interaction between learner and instructor or between learner and materials which have been prepared to bring about learning. Please note that NSGC requires payment of $25.00 per individual claiming CEUs. NSGC will issue (via e-mail) an official CEU notice to each participant that details the total number of CEUs and Contact Hours earned for each activity. NSGC will maintain a record of CEUs for all participants for up to five years.

For the Laboratory Animal Sciences event, the American Association of Veterinary State Boards Registry of Approved Continuing Education (RACE) has authorized LabRoots to offer continuing education credits to veterinarians and veterinary technicians.

For more information regarding accreditation bodies, click here.

Click on the orange CME/CE credit buttons to get credits:

Keynote: Delivering on the promise of personalized medicine
08.20.2014 | 06:00:00 AM PT
Gordon B Mills, MD, PhD
Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center
CEU
The realization of the promise of personalized molecular medicine requires efficient development and implementation of novel targeted therapeutics lin
08.20.2014 | 06:00:00 AM PT
Gordon B Mills, MD, PhD
Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center
CEU
Human Genome Analysis
08.20.2014 | 07:00:00 AM PT
Mark B Gerstein, PhD
Albert L. Williams Professor of Biomedical Informatics, Co-Director, Yale Computational biology and Bioinformatics Program, Yale University
Establishing cell-free biology for the production of therapeutics, materials, and chemicals
08.20.2014 | 07:15:00 AM PT
Michael C Jewett, PhD
Assistant Professor of Chemical and Biological Engineering, Northwestern University
Panel Discussion: Increasing productivity and reproducibility by automating DNA library preparation for Ion Torrent Sequencing
08.20.2014 | 07:30:00 AM PT
Joanna Hamilton, PhD, Lynne Apone, PhD, Zach Smith, MS
Joanna Hamilton, PhD, Co-Director, Dartmouth Medical School and the Norris Cotton Cancer Center Lynne Apone, PhD, Application and Product Development Scientist, NEBNext group, New England Biolabs Zach Smith, MS, Senior Applications Scientist, Beckman Coulter, Inc.
CEU
Exploring Complex Structural Genomic Variation using Next-Gen Sequencing
08.20.2014 | 08:00:00 AM PT
Ryan E Mills, PhD
Assistant Professor, Department of Computational Medicine & Bioinformatics, Assistant Professor, Department of Human Genetics, University of Michigan
CEU
High-resolution genomic analysis reveals genetic impacts of human papillomavirus in human cancers
08.20.2014 | 08:00:00 AM PT
David E Symer, MD, PhD
Assistant Professor Department of Molecular Virology, Immunology and Medical Genetics, Assistant Professor, Division of Hematology, Department of Internal Medicine, Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center
Actionable mutation detection with multiplex pcr-based targeted enrichment approach for next generation sequencing (NGS)
08.20.2014 | 08:30:00 AM PT
Vikram Devgan, PhD, MBA
Director, Head of Biological research content, Qiagen, Inc.
Digitizing Life Using Synthetic Genomics
08.20.2014 | 08:45:00 AM PT
John Glass, PhD
Senior Scientist, Synthetic Biology Group, J. Craig Venter Institution
CEU
Novel gene chip technologies and NGS sequencing for personalized medicine & diagnostic
08.20.2014 | 08:45:00 AM PT
Dani Bercovich, PhD
Professor, Scientific Director, Head of MSc program in Biotechnology, Tel Hai College, GGA - Galil Genetic Analysis
CEU
One Platform. Many Analyses.
08.20.2014 | 10:30:00 AM PT
Sohela Shah, PhD
Field Application Scientist, Ingenuity Systems, a Qiagen company, Neihaus research fellow, Memorial Sloan Kettering Cancer Center
CEU
OncoScan Assay for copy number from FFPE. Publications & cases on actionable CNV detection
08.20.2014 | 10:45:00 AM PT
Padma Sundar, MBA, MPH
Director of OncoScan Product Marketing Strategy, Affymetrix
CEU
The Impact of the $1000 Genome on Medicine
08.20.2014 | 10:45:00 AM PT
Shawn Baker, PhD
CEO, CSO and Co-Founder, AllSeq, Inc.
More Comprehensive Views of Human Genetic Variation
08.20.2014 | 11:30:00 AM PT
Jonas Korlach, PhD
Chief Scientific Officer, Pacific Biosciences
CEU
Ethical, Legal and Social Issues of Direct-to-Consumer Genetic Testing
08.20.2014 | 11:45:00 AM PT
Heidi C Howard, PhD
Senior Researcher, Uppsala University, Centre for Research Ethics & Bioethics
CEU
Genetic Counseling Post-SCOTUS Patent Decision: Fast Forward
08.20.2014 | 11:45:00 AM PT
Ellen T Matloff, MS, CGC
Founder and CEO, Gene Counsel
Integrative Systems Approaches to Network Modeling of Biological Processes
08.20.2014 | 12:30:00 PM PT
John Quackenbush, PhD
Professor of Computational Biology and Bioinformatics, Department of Biostatistics, Harvard University, Dana-Farber Cancer Institute
CEU
Identifying transcriptional regulators of human embryonic development via expression variability
08.20.2014 | 14:15:00 PM PT
Jessica C Mar, PhD
Assistant Professor, Department of Systems & Computational Biology, Assistant Professor, Department of Epidemiology & Population Health, Albert Einstein College of Medicine
CEU
Landscape and variation of RNA secondary structures in the human transcriptome
08.21.2014 | 06:00:00 AM PT
Yue Wan, PhD
GIS fellow, Genome Institute of Singapore, A*STAR, Genome Institute of Singapore
CEU
Development and Applications of CRISPR-Cas9 for Genome Editing
08.21.2014 | 06:45:00 AM PT
Feng Zhang, PhD
Core Faculty Member, The Broad Institute of MIT/Harvard, Investigator, McGovern Institute for Brain Research, W.M. Keck Career Development Professor of Biomedical Engineering Assistant Professor, Department of Brain and Cognitive Sciences
Practical Considerations for the Clinical Interpretation of Germline Sequence Variants in the Era of NGS
08.21.2014 | 06:45:00 AM PT
Heather McLaughlin, PhD, MB(ASCP)CM
Clinical Molecular Genetics Fellow, Partners HealthCare Personalized Medicine
Keynote: Clinical Validity and Utility in Whole Exome/Genome Sequencing
08.21.2014 | 07:30:00 AM PT
Robert Nussbaum, MD
Professor, Department of Medicine, Chief, Division of Medical Genetics, Holly Smith Distinguished Professorship in Science and Medicine, University of California, San Francisco Helen Diller Family Comprehensive Cancer Center
CEU
Beyond Genomics: Preparing for the Avalanche of Post-Genomic Clinical Findings
08.21.2014 | 08:45:00 AM PT
Jimmy Lin, MD, PhD, MHS
Founder & President, Rare Genomics Institute, School Faculty Member, Washington University in St. Louis
CEU
From Genetics to Genetic Medicine: Gene Therapy for vision restoration as a case study
08.21.2014 | 08:45:00 AM PT
Luk H Vandenberghe, PhD
Assistant Professor, Harvard Medical School, Assistant Scientist, Schepens Eye Research Institute, Massachusetts Eye and Ear
Genome and exome sequencing in a clinical laboratory
08.21.2014 | 08:45:00 AM PT
Matthew Lebo, PhD, FACMG
Director of Bioinformatics, Assistant Laboratory Director, Partners Healthcare, Personalized Medicine, Laboratory for Molecular Medicine, Instructor of Pathology, Brigham and Woman's Hospital, Harvard Medical School
CEU
Studying the Transcriptome with Next-Generation Sequencing
08.21.2014 | 09:30:00 AM PT
Gary Schroth,PhD
Distinguished Scientist, Illumina, Inc.
CEU
Pathway based analyses for genetic susceptibility to cancer and autoimmune disease
08.21.2014 | 09:45:00 AM PT
Christopher I Amos, PhD
Associate Director for Population Sciences, Professor of Community and Family Medicine at the Geisel School of Medicine, Norris Cotton Cancer Center, Dartmouth College
CEU
Shotgun sequencing enables non-invasive monitoring of infection and rejection in transplantation
08.21.2014 | 09:45:00 AM PT
Iwijn De Vlaminck, PhD
Postdoctoral researcher, HHMI research associate, Departments of Bioengineering and Applied Physics, Stanford University
CEU
The Role of Genetic Counselors in the Implementation of Personalized Genomic Medicine
08.21.2014 | 10:45:00 AM PT
Colleen Campbell, PhD
Assistant Director, University of Iowa - Iowa Institute for Human Genetics
CEU
Keynote: Integration of Genetics and Genomics into Medical Practice: Educational Challenges
08.21.2014 | 11:15:00 AM PT
Bruce R Korf, MD, PhD
Wayne H. and Sara Crews Finley Chair of Medical Genetics, Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham
Automation of High Throughput Agarose Gel Electrophoresis with the NIMBUS Select Featuring Ranger Technology
08.21.2014 | 11:30:00 AM PT
Matthew Nesbitt, MSc
President, Coastal Genomics
Understanding the Genetics of Common Disease: Using Big Data approaches to see the emergent whole
08.21.2014 | 11:30:00 AM PT
Kenneth Buetow, PhD, FACMI
Director of Computational Sciences and Informatics Program for Complex Adaptive Systems, Professor, the School of Life Sciences, Arizona State University
A Next-Gen Sequencing Software Workflow for Gene Panel Validation Control
08.21.2014 | 12:15:00 PM PT
Matthew Keyser, MS
Next-Gen Application Scientist, DNASTAR
CEU
Predictive and not: understanding the mixed messages of our DNA
08.21.2014 | 12:45:00 PM PT
Cecile Janssens, PhD
Research Professor of Epidemiology, Emory University
CEU
Integrating patient specific information in rare disorder analysis
08.21.2014 | 14:30:00 PM PT
Asif Javed, PhD
Research Associate, Genome Institute of Singapore (GIS), A*STAR
CEU
Unexpected Findings from Analysis of Complex Mammalian Transcriptomes
08.21.2014 | 15:00:00 PM PT
Piero Carninci, PhD
Director, Division of Genomic Technologies, RIKEN Center for Life Science Technologies

Genetics and Genomics

Speakers

Gordon B Mills, MD, PhD
Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center

Gordon B. Mills, MD, PhD, was recruited to The University of Texas M. D. Anderson Cancer Center in 1994, where he holds the rank of Professor with joint appointments in Systems Biology, Breast Medical Oncology and Immunology; serves as chairman of the Department of Systems Biology; head of the section of Molecular Therapeutics and holds the Wiess Distinguished University Chair in Cancer Medicine. Dr. Mills is co-Director of the Kleberg Center for Molecular Markers and Director for the Gita and Ali Saberioon Molecular Markers building. This Center is responsible for developing personalized molecular medicine at MDACC. Dr. Mills has published extensively on the molecular analysis of cancer and currently serves as principal investigator or project investigator on many national peer review grants including NIH/NCI SPOREs and PPGs, Department of Defense, and Komen Foundation grants, and is a collaborator on multiple other national grants. Dr. Mills also holds more than 20 patents related to novel technologies and molecular markers and has co-founded an early diagnostics company. He currently sits on the scientific advisory boards of multiple companies and venture capital groups. Based on his expertise in technology development, he is the head of the M. D. Anderson Cancer Center Technology Review Committee.

Bruce R Korf, MD, PhD
Wayne H. and Sara Crews Finley Chair of Medical Genetics, Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, University of Alabama at Birmingham

Dr. Bruce Korf is a nationally recognized leader in human genetics and internationally regarded as a leading authority in the neurodevelopmental disorder neurofibromatosis. Dr. Korf joined the UAB faculty in 2003 as the Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair of the UAB Department of Genetics. Prior to this time, Dr. Korf had distinguished himself at Harvard Medical School for the past twenty years, rising through the academic ranks to Associate Professor. He was appointed Medical Director of the Harvard-Partners Center for Genetics and Genomics in 1999.

Feng Zhang, PhD
Core Faculty Member, The Broad Institute of MIT/Harvard, Investigator, McGovern Institute for Brain Research, W.M. Keck Career Development Professor of Biomedical Engineering Assistant Professor, Department of Brain and Cognitive Sciences

Feng Zhang is a Core Member of the Broad Institute of MIT and Harvard and the W. M. Keck Career Development Professor of Biomedical Engineering at MIT. As a graduate student at Stanford University, Zhang worked with advisor Karl Deisseroth to invent a set of technologies for dissecting the functional organization of brain circuits. His lab works on developing and applying disruptive technologies including optogenetics and genome engineering (TALEs and CRISPR) to understand nervous system function and disease. Zhang’s long-term goal is to develop novel therapeutic strategies for disease treatment. He obtained a bachelor’s degree from Harvard University and a PhD in chemistry and bioengineering from Stanford University. Before joining the MIT faculty he was a junior fellow of the Harvard University Society of Fellows. He is a recipient of the NSF’s Alan T. Waterman Award, Perl/UNC Prize in Neuroscience, the NIH Director’s Pioneer award, and awards from the Searle Scholars Program, McKnight, Keck, and Damon Runyon foundations.

Asif Javed, PhD
Research Associate, Genome Institute of Singapore (GIS), A*STAR

Asif Javed received his PhD in Computer Science from Rensselaer Polytechnic Institute in 2008 working in population genomics. He then joined IBM TJ Watson Research Center as a postdoctoral researcher where his work was part of the Genographic project. In 2011, Dr Javed joined Genome Institute of Singapore, A*STAR as a research associate where his work focuses on rare disorder analysis and cancer genomics. He is currently applying the computational algorithms he has developed to elucidate the genetic cause of Mendelian disorders in multiple families.

Jimmy Lin, MD, PhD, MHS
Founder & President, Rare Genomics Institute, School Faculty Member, Washington University in St. Louis

Jimmy Lin, MD, PhD, MHS, is a 2012 TED Fellow and Founder & President of Rare Genomics Institute, the world's first platform to enable any community to leverage cutting-edge biotechnology to advance understanding of any rare disease. Partnering with 18 of the top medical institutions, such as Harvard, Yale, Johns Hopkins, and Stanford, RGI helps custom design personalized research projects for diseases so rare that no organization exists to help. Dr. Lin is also a medical school faculty member at the Washington University in St. Louis and led the computational analysis of the first ever exome sequenching studies for any human disease at Johns Hopkins. He has numerous publications in Science, Nature, Cell, Nature Genetics, and Nature Biotechnology, and has been featured in Forbes, Bloomberg, Wall Street Journal, Washington Post, and the Huffington Post.

Christopher I Amos, PhD
Associate Director for Population Sciences, Professor of Community and Family Medicine at the Geisel School of Medicine, Norris Cotton Cancer Center, Dartmouth College

Dr. Amos moved in September, 2012 to the Geisel School of Medicine, where he is leading the Center for Genomic Medicine and serving as the Associate Cancer Center Director for Population Studies. Dr. Amos is leading studies to identify genetic risk factors for lung cancer and melanoma risk using genome-wide association and sequencing approaches.  Dr. Amos leads a U19 grant entitled Transdisciplinary Research in Cancer of the Lung (TRICL) to identify genetic factors for lung cancer and interactions with smoking, study these factors in cell biological and animal models and to perform epidemiological studies of gene and environmental contributions to lung cancer risk. This grant includes 16 subcontracts and integrates work from an international consortium. Dr. Amos has served as the leader of the biostatistics core for the Genetic Epidemiology of Lung Cancer Consortium (GELCC) since its inception.  With the move to Dartmouth he has replicated the computing environment that manages studies for GELCC and TRICL.   Dr. Amos also provides direction for a grant that characterizes and sequences nicotinic receptors and uses fMRI to investigate effects of nicotinic receptor variants on responses to smoking cues. Dr. Amos has also worked extensively in the genetic epidemiology of colon cancer. He developed a Peutz-Jeghers syndrome registry while at M.D. Anderson Cancer Center. He has also studied genetic risk factors for sporadic colon cancer and hereditary nonpolyposis colon cancer.  Dr. Amos has developed novel statistical approaches for gene-environment interaction analysis and for the identification of genes influencing complex diseases using either association based approaches or genetic linkage analysis.

Kenneth Buetow, PhD, FACMI
Director of Computational Sciences and Informatics Program for Complex Adaptive Systems, Professor, the School of Life Sciences, Arizona State University

Dr. Ken Buetow is a human genetics and genomics researcher who leverages computational tools to understand complex traits such as cancer, liver disease, and obesity.  Dr. Buetow currently serves as Director of Computational Sciences and Informatics program for Complex Adaptive Systems at Arizona State University (CAS@ASU) and is a professor in the School of Life Sciences in ASU’s College of Liberal Arts and Sciences.  CAS@ASU applies systems approaches that leverage ASU’s interdisciplinary research strengths to address complex global challenges. The Computational Sciences and Informatics program is developing and applying information technology to collect, connect, and enhance trans-disciplinary knowledge both within ASU and across the broader knowledge-generating ecosystems.   CAS@ASU is creating a Next Generation Cyber Capability to address the challenges and opportunities afforded by “Big Data” and the emergence of 4th Paradigm Data Science.  This capability brings state-of-the-art computational approaches to CAS@ASU’s transdisciplinary, use-inspired research effortsDr. Buetow previously served as the Director of the Center for Biomedical Informatics and Information Technology within the National Institutes of Health’s National Cancer Institute (NCI).  In that capacity he initiated and oversaw the NCI’s efforts to connect the global cancer community through community-developed, standards-based, interoperable informatics capabilities that enable secure exchange and use of biomedical data. Buetow designed and built one of the largest biomedical computing efforts in the world. He was responsible for coordinating biomedical informatics and information technology at the NCI. The NCI center he led focused on speeding scientific discovery and facilitated translational research by coordinating, developing and deploying biomedical informatics systems, infrastructure, tools and data in support of NCI research initiatives.

Yue Wan, PhD
GIS fellow, Genome Institute of Singapore, A*STAR, Genome Institute of Singapore

Yue Wan received her B.Sc in Cell Biology and Biochemistry from the University of California, San Diego. She obtained her Ph.D in Cancer Biology  Stanford University, California, USA, under the mentorship of Howard Y. Chang.  During her PhD, she developed the first high-throughput method for probing RNA structures genome-wide.  Yue is a recipient of the NSS-PhD scholarship from Agency for Science, Technology and Research (A*STAR) in Singapore.  She is currently a GIS fellow in the Genome Institute of Singapore and a Society in Science- Branco Weiss Fellow.  Yue is interested in studying functional RNA structures and understanding their roles in regulating cellular biology.

Piero Carninci, PhD
Director, Division of Genomic Technologies, RIKEN Center for Life Science Technologies

Born and Educated in Italy he obtained his doctoral degree at the University of Trieste in 1989. From 1990 to 1995 he developed technologies for DNA extraction and DNA sequencing at Talent, a spin-off biotech.

He moved to Japan in 1995 at RIKEN, Tsukuba Life Science center and became tenure researcher in 1997. He has been developing technologies to capture full-length cDNAs, which were used for the construction of the Fantom projects.  Between 2008 and 2013, he was a Team and Unit Leader and a Deputy Project Director at the RIKEN Omics Science Center in Yokohama. He has developed technologies to analyze the the transcribed part of the genome (transcriptome), such as the cap-trapper and the CAGE. These technologies have been broadly used in the RIKEN Fantom projects and allowed identifying non-coding RNAs as are the major output of the mammalian genome and providing comprehensive maps of the mammalian promoters. Additionally he developed a miniaturization of CAGE, in order to approach biological problems that for which there is limited amount of starting material.

From April in 2013, he is a Director of the Division Genomics Technologies and a Deputy Director of Center for Life Science Technologies, RIKEN.

He has published more than 200 papers and book chapters, edited books and is a member of editorial boards of various scientific journals.

Luk H Vandenberghe, PhD
Assistant Professor, Harvard Medical School, Assistant Scientist, Schepens Eye Research Institute, Massachusetts Eye and Ear

Assistant Professor, Harvard Medical School

Assistant Scientist, Schepens Eye Research Institute, Massachusetts Eye and Ear

Director, Gene Transfer Vector Core (GTVC)

Associate Director, Ocular Genomics Institute (OGI)

Investigator, Berman-Gund Laboratory for Retinal Degenerations, Howe Laboratory

Affiliate Faculty, Harvard Stem Cell Institute

Luk H. Vandenberghe, PhD, trained as a biochemical engineer through his training at the University in Leuven, Belgium where he later also obtained his doctoral degree in Medical Sciences. Most of his graduate and postdoctoral work was performed at the University of Pennsylvania in Philadelphia in the leading gene therapy laboratories of Carl June, James Wilson, and Jean Bennett. In 2012, Dr. Vandenberghe set up a lab at the Schepens Eye Research Institute and Mass Eye and Ear in Boston where he is Assistant Professor at Harvard Medical School. Currently he is Director of the Grousbeck Gene Therapy Center and Associate Director of the Ocular Genomics Institute, both primarily focused at bringing gene therapies for vision restoration to the clinic.

In previous work Dr. Vandenberghe has co-discovered, developed, and characterized novel serotypes of the adeno-associated virus (including AAV8,9), several of which are now in wide use at preclinical and clinical experimental stages for a host of target tissues and indications. His work has elucidated key insights into the host response of AAV in humans in the context of pre-existing immunity of this virus endemic in humans. Dr. Vandenberghe is a co-founder of a biotechnology company called GenSight Biologics (Paris, France) and named inventor in over a dozen published and pending patents of gene therapy related technologies.

The Vandenberghe lab at Harvard studies gene therapy approaches for neurosensory disorders with a focus on clinical programs for retinal dystrophies. Its broader ambition is to make gene therapy a widely applicable clinical modality in ophthalmology and beyond. Toward this goal his program builds innovative vector technologies to overcome current translational hurdles.  His research brings together molecular virology and immunology, synthetic biology, engineering, and medicine in attempt to understand and improve the challenges of the therapeutic potential of in vivo gene transfer.

Colleen Campbell, PhD
Assistant Director, University of Iowa - Iowa Institute for Human Genetics

Colleen Campbell, PhD, MS, CGC is the Assistant Director of the Iowa Institute of Human Genetics and an Associate in the Department of Otolaryngology at the University of Iowa Carver College of Medicine. Dr. Campbell received her M.S. in human genetics at Sarah Lawrence College. She is an American Board of Genetic Counseling board certified genetic counselor.  Dr. Campbell received her PhD in human genetics at the University of Iowa in 2012 and completed her post-doctoral training in Otolaryngology at the University of Iowa. In 2012 she co-founded the Iowa Institute of Human Genetics, which is responsible for implementing personalized genomic medicine in the state of Iowa.  Dr. Campbell oversees the Iowa Institute of Human Genetics clinical exome sequencing test and is the Director of the Iowa Institute of Human Genetics Education Division.  Her interests include implementation of exome and genomic testing in the clinical setting, including patient choice of secondary findings. Dr. Campbell is also interested promoting genetic counseling within the state and is the current chair of the NSGC Personalized Medicine Special Interest Group Whole Genome/Whole Exome Sequencing Workgroup, and the incoming Committee Vice Chair for 2015 of the National Society of Genetic Counselors Access Committee.

Matthew Nesbitt, MSc
President, Coastal Genomics

Mr. Nesbitt completed his Masters degree in Molecular Biology at Simon Fraser University where his work focused on the discovery of new genes in the C. elegans model organism. This experience impressed upon him both the value of next generation sequencing and its vulnerabilities to the extensively manual sample preparation steps. Mr. Nesbitt started his professional career in liquid handling automation as a product manager responsible for the development of NGS library construction solutions. He now works with Coastal Genomics to launch its automated gel size electrophoresis solution, Ranger Technology.

Heather McLaughlin, PhD, MB(ASCP)CM
Clinical Molecular Genetics Fellow, Partners HealthCare Personalized Medicine

Dr. McLaughlin is an Assistant Laboratory Director at Partners HealthCare Personalized Medicine’s Laboratory for Molecular Medicine. She received a B.S. in Diagnostic Molecular Science from Michigan State University and a Ph.D. in Human Genetics from the University of Michigan. She completed a Clinical Molecular Genetics Fellowship at the Harvard Medical School Genetics Training Program. Dr. McLaughlin’s clinical interests focus on molecular diagnostic testing for inherited cardiomyopathies and pulmonary disorders and the implementation of exome and genome sequencing into the clinical laboratory. She is also interested in exploring incidental findings in individuals undergoing genomic sequencing and developing reporting formats that will aid in the integration of genomic sequencing into clinical medicine.

Matthew Lebo, PhD, FACMG
Director of Bioinformatics, Assistant Laboratory Director, Partners Healthcare, Personalized Medicine, Laboratory for Molecular Medicine, Instructor of Pathology, Brigham and Woman's Hospital, Harvard Medical School

Matthew Lebo, PhD joined Partners Personalized Medicine as an Associate Laboratory Director for the Laboratory for Molecular Medicine in 2011 after completing his ABMG molecular genetics fellowship training at the Harvard Medical School Genetics Training Program. In the fall of 2013 Dr. Lebo became the head of Bioinformatics at Partners Personalized Medicine.

Gary Schroth,PhD
Distinguished Scientist, Illumina, Inc.

Dr. Schroth is currently a Distinguished Scientist at Illumina where he directs the Genomic Applications Group based in San Diego. He obtained his Ph.D. in biochemistry from the University of California at Davis and has been working in the field of next-generation sequencing (NGS) for over 9 years as part of Illumina (and Solexa).  In his research Dr. Schroth uses NGS to study gene structure, expression and regulation and applies this to genomic projects in the fields of cancer, microbiology and infectious disease.Over the course of his career Dr. Schroth has published more than 80 peer reviewed research papers and holds 17 U.S. patents. 

Iwijn De Vlaminck, PhD
Postdoctoral researcher, HHMI research associate, Departments of Bioengineering and Applied Physics, Stanford University

Iwijn De Vlaminck obtained a PhD from the KuLeuven in Belgium. He has a background in applied physics, specifically in nanoscale optics and mechanics. After his PhD he joined the lab of Cees Dekker at the TUDelft as a postdoc in single-molecule biophysics. He joined the lab of Stephen Quake at Stanford University as a postdoctoral researcher in 2012. His current interests include single-cell genomics and sequencing-based medical diagnostics.

Matthew Keyser, MS
Next-Gen Application Scientist, DNASTAR

Matthew Keyser is a next-gen application scientist for DNASTAR, where he has helped scientists address their sequence assembly and analysis challenges for the past seven years.  Matt’s sole focus at DNASTAR is supporting customers in next-gen sequencing applications using DNASTAR’s broad software toolset.  Matt helps customers with their templated and de novo assembly projects, transcriptomes, exomes, metagenomic assemblies, RNA-Seq, ChIP-Seq and numerous other unique experiments.  Matt has helped hundreds of scientists optimize their workflows using DNASTAR’s next-gen software solutions.  He has also spoken at numerous conferences and workshops regarding the capabilities of DNASTAR’s next-gen software tools.

Robert Nussbaum, MD
Professor, Department of Medicine, Chief, Division of Medical Genetics, Holly Smith Distinguished Professorship in Science and Medicine, University of California, San Francisco Helen Diller Family Comprehensive Cancer Center
John Glass, PhD
Senior Scientist, Synthetic Biology Group, J. Craig Venter Institution

John Glass is a Professor in and leader of the JCVI Synthetic Biology and Bioenergy Group.  His expertise is in molecular biology, microbial pathogenesis, RNA virology, and microbial genomics. Glass is part of the Venter Institute team that created a synthetic bacterial cell in 2010. In reaching this milestone the Venter Institute scientists developed the fundamental techniques of the new field of synthetic genomics including genome transplantation and genome assembly.  Glass was also leader of the JCVI project that rapidly made synthetic influenza virus vaccine strains in collaboration with Novartis Vaccines and Diagnostics, Inc. and Synthetic Genomics, Inc. At the JCVI he has also led the bacterial outer membrane vesicle based vaccine, genome transplantation, and Mycoplasma genitalium minimal genome projects, and projects studying other mycoplasma and ureaplasma species. Glass and his Venter Institute colleagues are now using synthetic biology and synthetic genomics approaches developed at the JCVI to create cells and organelles with redesigned genomes to make microbes that can produce biofuels, pharmaceuticals, and industrially valuable molecules. Prior to joining the JCVI in 2003, Glass spent five years in the Infectious Diseases Research Division of the pharmaceutical company Eli Lilly. There he directed a hepatitis C virology group and a microbial genomics group.Glass earned his undergraduate and graduate degrees from the University of North Carolina at Chapel Hill. His Ph.D. work was on RNA virus genetics in the laboratory of Gail Wertz. He was on the faculty and did postdoctoral fellowships in the Microbiology Department of the University of Alabama at Birmingham in polio virology with Casey Morrow and mycoplasma pathogenesis with Gail Cassell (1990-1998). On sabbatical leave in Ellson Chen’s lab at Applied Biosystems Inc.(1995-1997) he sequenced the genome of Ureaplasma parvum and began his study of mycoplasma genomics.

John Quackenbush, PhD
Professor of Computational Biology and Bioinformatics, Department of Biostatistics, Harvard University, Dana-Farber Cancer Institute

John Quackenbush received his PhD in theoretical physics from UCLA in 1990. Following a physics postdoc, he received a Special Emphasis Research Career Award from the National Center for Human Genome Research to work on the Human Genome Project, spending two years at the Salk Institute and two years at Stanford University working in genomics and computational biology. In 1997 he moved to The Institute for Genomic Research (TIGR), pioneering expression analysis. He joined the Dana-Farber Cancer Institute and the Harvard School of Public Health in 2005, and works reconstruction of gene networks that drive the development of diseases. In 2012 he and Mick Correll co-Founded GenoSpace, a company that develops software tools to enable precision medicine applications.

Padma Sundar, MBA, MPH
Director of OncoScan Product Marketing Strategy, Affymetrix

Padma led the design, development and commercialization of the OncoScan Assay kit, a whole genome copy number platform with high resolution in ~900 cancer genes, that requires  80ng of input DNA from formalin fixed paraffin embedded (FFPE) samples such as those from biopsies. .  The OncoScan Assay has been used extensively for Translational research  in the Academic and Pharma settings,  resulting in over 100 publications in the last two years.. Several labs including the Memorial Sloan Kettering Cancer Center, Fox Chase Cancer Center, ARUP labs and Seattle Cancer Care have launched the OncoScan Assay as a CLIA validated testWorking closely with researchers at leading cancer hospitals worldwide such as at the MD Anderson Cancer Center, Washington Unoversity, and the Hunstsman Cancer Institute,, Padma has designed clinical studies that have successfully demonstrated the clinical utility of the OncoScan Assay in identifying actionable copy number alterations in solid tumor samples. These studies have been presented at  webinars hosted by Science, The European College of Pathology, the Cancer Genomic Consortium, The American Society of Human Genetics among others.    In partnership with CollabRx, a cloud based data analytics company, Padma helped develop a copy number annotation service that  delivers concise, real time information on therapeutics targeting CNVs in cancer patients, with a 24 hour turnaround. This report can be integrated with somatic mutations, such as those from Next generation sequencing panels, Prior to joining Affymetrix, Padma Sundar worked for over 13 years in the Life Sciences industry in Business development roles  at Johnson and Johnson,  Medical Device and Diagnostics Division, and has served various Pharmaceutical clients as a management consultant with McKinsey & Company.She has a Bachelors in Chemistry from the University of Delhi, India and an MBA and a Masters in Public Health from University of California at Berkeley

Michael C Jewett, PhD
Assistant Professor of Chemical and Biological Engineering, Northwestern University

Michael Jewett is an Assistant Professor of Chemical and Biological Engineering and Member of the Chemistry of Life Processes Institute at Northwestern University. He received his PhD in 2005 at Stanford University.  After completing postdoctoral studies as an NSF International Research Fellow at the Center for Microbial Biotechnology in Denmark and as an NIH Pathway to Independence Fellow at the Harvard Medical School, he joined Northwestern in 2009.  Mike is developing cell-free biology as an enabling technology for biomanufacturing lifesaving therapeutics, sustainable chemicals, and novel materials, both quickly and on-demand. He focuses on designing, constructing, and modifying biological systems involved in protein synthesis and metabolism, with promise to advance new paradigms for synthetic biology. In 2011, he was honored with a David and Lucile Packard Fellowship in Science and Engineering, the DARPA Young Faculty Award, and the Agilent Early Career Professor Award.

Jessica C Mar, PhD
Assistant Professor, Department of Systems & Computational Biology, Assistant Professor, Department of Epidemiology & Population Health, Albert Einstein College of Medicine

Jessica Mar is an Assistant Professor at the Albert Einstein College of Medicine in the Department of Systems and Computational Biology in the Bronx, New York. The Mar lab investigates how variability of gene expression informs our understanding of how genes and pathways are dysregulated in disease. Dr. Mar received her PhD in Biostatistics from Harvard University in 2008. Previously she was a postdoctoral research fellow at the Dana-Farber Cancer Institute in Boston and a visiting scientist at the European Bioinformatics Institute in the United Kingdom. She is a recipient of a University of Queensland medal and an American-Australian Fulbright award. She is currently an Associate Editor of Genomics.

Shawn Baker, PhD
CEO, CSO and Co-Founder, AllSeq, Inc.

Dr. Shawn C. Baker is the Chief Science Officer and co-founder of AllSeq. Having received his Ph.D. at the University of California - Davis, he started his career as a Research Scientist at Illumina when it was a 15-person startup. After spending several years at the bench developing gene expression array products, he transitioned to Product Marketing where he led a team in charge of Illumina’s Expression and Regulation sequencing portfolio. In 2013 Dr. Baker co-founded AllSeq, establishing the only true sequencing marketplace, matching researchers with service providers based on their needs.

Ellen T Matloff, MS, CGC
Founder and CEO, Gene Counsel

Ellen T. Matloff, M.S., C.G.C., received her Bachelor's degree in Biology from Union College, her Master's degree in Genetic Counseling from Northwestern University, and her board certification from the American Board of Genetic Counseling.  Matloff was the Founder and Director of the Cancer Genetic Counseling Program at Yale School of Medicine until July 2014 and is the Founder and CEO of Gene Counsel (mygenecounsel.com). Her interests include patient and provider issues in genetic counseling, adverse events in genetic testing and the impact of patents on clinical practice. Ms. Matloff was a lead plantiff in the 2013 Supreme Court case against gene patenting.

Dani Bercovich, PhD
Professor, Scientific Director, Head of MSc program in Biotechnology, Tel Hai College, GGA - Galil Genetic Analysis

Prof' Bercovich expertise are the specialization in preforming complex genetic screening in humans genomic DNA, which were acquired during his post-doctoral in the Baylor College of Medicine, Houston, Texas, which was  one of the five major human genome project centers. When the genomic location of a genomic component (loci – gene) is unknown, Prof; Bercovich is  assisted by using linkage testing techniques (genetic chips with SNP) and then using the techniques of sequencing of the entire EXOM to reveal new genes for human diseaseNew gene mutations, which were identified in laboratory studies of Prof. Bercovich, were used for intracellular studies in the laboratory, and identified the biological effects of those changes. Professor Bercovich working in recent years to develop new diagnostic methods using genetic chips and has resulted in the development stages and final clinical validation of genetic chips for prenatal screening and common mutations which defend predisposition peoples to genetic diseases & cancers, using the Fluidigm nano-chips, by careful planning using higher density of nanometers Taqman reactions. The combination of advances in genetics research in general and human genetics in particular, and the development of various techniques of laboratory tests, led the field of bioinformatics as a center stage to preform quality of laboratory work, and this is a key process in today's medical interpreting test results in research, and in medical services. Professor Bercovich bought himself a place in recent years, to be one of the leading groups in this country; he acquired vast experience in the field and is considered a noticeable expert in the field of molecular Genetics.Prof' Bercovich has publish of 60 pear review articles in high impact factors journals including The Lancet (Bercovich et al Lancet, 2008).

Heidi C Howard, PhD
Senior Researcher, Uppsala University, Centre for Research Ethics & Bioethics

Heidi Carmen Howard is a senior researcher at the Centre for Research Ethics and Bioethics at Uppsala University (Sweden).She received her undergraduate and doctoral degrees in Biology from McGill University (Montréal, Canada). The focus of her PhD was neurogenetics and she continued her genetics training in psychiatric genetics at the Centre for Genomic Regulation in Barcelona (Spain) and at the Douglas Hospital in Montréal (Canada). With an Erasmus Mundus fellowship, she completed the Erasmus Mundus Master of Bioethics programme in 2008. She then spent four years with the support of the European Commission FP7 Marie Curie Career Development Awards (2009-2011; 2011-2013) which allowed her to work on the ethical, legal and social issues (ELSI) related to genetics and genomics as well as biobanking at KULeuven (Belgium) and inserm (France) respectively.Currently, her main areas of research are the ELSI of risk information in genetics and genomics, direct-to-consumer genetic testing, public health genomics, new genomic technologies, participant-centric research initiatives and the translation of genomics from the laboratory to the clinic.Dr. Howard is also an invited scholar at the Centre of Genomics and Policy at McGill University and a member of the Public and Professional Policy Committee of the European Society of Human Genetics.

David E Symer, MD, PhD
Assistant Professor Department of Molecular Virology, Immunology and Medical Genetics, Assistant Professor, Division of Hematology, Department of Internal Medicine, Human Cancer Genetics Program, Ohio State University Comprehensive Cancer Center

Dr. David Symer is an assistant professor in the Human Cancer Genetics Program, Department of Molecular Virology, Immunology and Medical Genetics and Department of Internal Medicine, Division of Hematology at the Ohio State University Comprehensive Cancer Center – James Cancer Hospital. Recently, Dr. Symer also was named interim director of the core laboratory offering shared resources in genomics at Ohio State, the Nucleic Acids / Microarray Shared Resource. Dr. Symer has ongoing research interests in molecular biology and in cancer genetics and genomics. His primary clinical interest is chronic lymphocytic leukemia. He graduated with an AB degree in mathematics from Dartmouth College, earned his MD and PhD degrees at Johns Hopkins University School of Medicine, did his residency at Brigham and Women’s Hospital (Harvard Medical School), and completed his fellowship training at Brigham and Women’s Hospital and Johns Hopkins Oncology Center. Dr. Symer was a principal investigator at the National Cancer Institute prior to moving to Ohio State in 2009.

Jonas Korlach, PhD
Chief Scientific Officer, Pacific Biosciences

Dr. Korlach was appointed Chief Scientific Officer at Pacific Biosciences in July 2012. He co-invented the SMRT technology with Stephen Turner, Ph.D., Pacific Biosciences Founder and Chief Technology Officer, when the two were graduate students at Cornell University. Dr. Korlach joined Pacific Biosciences as the company's eighth employee in 2004. Dr. Korlach is the recipient of multiple grants, an inventor on 33 issued U.S. patents, and an author of numerous scientific studies on the principles and applications of SMRT technology, including publications in Nature, Science, and PNAS. He received both his Ph.D. and his M.S. degrees in Biochemistry, Molecular and Cell Biology from Cornell, and received M.S. and B.A. degrees in Biological Sciences from Humboldt University in Berlin, Germany.

Mark B Gerstein, PhD
Albert L. Williams Professor of Biomedical Informatics, Co-Director, Yale Computational biology and Bioinformatics Program, Yale University

Mark Gerstein is the Albert L Williams professor of Biomedical Informatics at Yale University. He is co-director the Yale Computational Biology and Bioinformatics Program, and has appointments in the Department of Molecular Biophysics and Biochemistry and the Department of Computer Science. He received his AB in physics summa cum laude from Harvard College and his PhD in chemistry from Cambridge. He did post-doctoral work at Stanford and took up his post at Yale in early 1997. Since then he has published appreciably in scientific journals. He has >400 publications in total, with a number of them in prominent journals, such as Science, Nature, and Scientific American. (His current publication list is at http://papers.gersteinlab.org .) His research is focused on bioinformatics, and he is particularly interested in large-scale integrative surveys, biological database design, macromolecular geometry, molecular simulation, human genome annotation, gene expression analysis, and data mining. 

Gordon B Mills, MD, PhD
Department Chair, Department of Systems Biology, Division of Cancer Medicine, University of Texas MD Anderson Cancer Center

Gordon B. Mills, MD, PhD, was recruited to The University of Texas M. D. Anderson Cancer Center in 1994, where he holds the rank of Professor with joint appointments in Systems Biology, Breast Medical Oncology and Immunology; serves as chairman of the Department of Systems Biology; head of the section of Molecular Therapeutics and holds the Wiess Distinguished University Chair in Cancer Medicine. Dr. Mills is co-Director of the Kleberg Center for Molecular Markers and Director for the Gita and Ali Saberioon Molecular Markers building. This Center is responsible for developing personalized molecular medicine at MDACC. Dr. Mills has published extensively on the molecular analysis of cancer and currently serves as principal investigator or project investigator on many national peer review grants including NIH/NCI SPOREs and PPGs, Department of Defense, and Komen Foundation grants, and is a collaborator on multiple other national grants. Dr. Mills also holds more than 20 patents related to novel technologies and molecular markers and has co-founded an early diagnostics company. He currently sits on the scientific advisory boards of multiple companies and venture capital groups. Based on his expertise in technology development, he is the head of the M. D. Anderson Cancer Center Technology Review Committee.

Joanna Hamilton, PhD, Lynne Apone, PhD, Zach Smith, MS
Joanna Hamilton, PhD, Co-Director, Dartmouth Medical School and the Norris Cotton Cancer Center Lynne Apone, PhD, Application and Product Development Scientist, NEBNext group, New England Biolabs Zach Smith, MS, Senior Applications Scientist, Beckman Coulter, Inc.

Joanna Hamilton is the Co-Director of the Genomics Shared Resource at Dartmouth Medical School and the Norris Cotton Cancer Center in Lebanon NH.  Dr. Hamilton received her PhD in 2005 in Cancer Biology and completed her post-doc training in Cardiology at Dartmouth.  In 2010, she joined the Genomics Shared Resource and was promoted to Co-Director in 2012.  Dr. Hamilton has been responsible for implementing the deep sequencing services available to researchers and is knowledgeable of both Illumina and Ion Torrent sequencing platforms and microarrays technologies.

Dr. Lynne Apone is an Application and Product Development Scientist at New England Biolabs, working in the NEBNext group. Dr. Apone received her PhD in Biomedical Sciences from the University of Massachusetts, Worcester. She remained at UMMC as a Post Doctoral fellow and later, an Instructor. Dr. Apone joined Agencourt Personal Genomics in 2005 as a member of the team tasked to develop the SOLiD next generation sequencing platform. In 2010 she joined New England Biolabs where she focuses on the development of products and applications that enable high throughput sequencing on the Ion Torrent and Illumina platforms.

Zach Smith currently serves as a Senior Applications Scientist at Beckman Coulter, Inc. developing applications for next generation sequencing (NGS) and other life science methods on Beckman’s BioMek liquid handing robots. Prior to this, Zach served for over eight years as a Project Scientist at the Center for Genomics and Bioinformatics at Indiana University, Bloomington, where he contributed to several large genome sequencing projects including the cladoceran microcrustacean Daphnia pulex , the jewel wasp  Nasonia vitripennis, the lone-star tick Amblyomma americanum, and others.  Zach completed a Bachelor’s of Science in Biology from Indiana University in 2002, followed by a Masters of Environmental Science from Indiana University’s School of Public and Environmental Affairs in 2012.

Ryan E Mills, PhD
Assistant Professor, Department of Computational Medicine & Bioinformatics, Assistant Professor, Department of Human Genetics, University of Michigan

Ryan Mills is an Assistant Professor in Computational Medicine & Bioinformatics and Human Genetics at the University of Michigan. After receiving his PhD in 2006 at Georgia Tech, he worked as an NRSA Postdoctoral Fellow at Emory University where he helped produce some of the first published genome-wide maps of insertion/deletion (indel) variation in human populations and develop technologies to derive their genotypes using microarrays. As a Research Associate at Harvard Medical School, he expanded the scope of his work into the mapping of larger structural and copy number variation as part of the 1000 Genomes and other projects. His current research is focused on developing methods for the identification, resolution and analysis of complex genomic rearrangements consisting of multiple breakpoints that are the result of overlapping or co-occurring structural changes to the genome.

Vikram Devgan, PhD, MBA
Director, Head of Biological research content, Qiagen, Inc.

Vikram Devgan is the head of Biological Research Content (BRC) Business at QIAGEN, developing and executing the product roadmap for the BRC portfolio. He is a trained marketer and received his MBA from the University of Wurzburg in Germany. A scientist at heart, Dr. Devgan spent more than 7 years as a scientist in technology and product development in the life sciences. Dr. Devgan received his Ph.D. in molecular biology and conducted post-doctoral research at Harvard Medical School before moving to the biotechnology industry.

Sohela Shah, PhD
Field Application Scientist, Ingenuity Systems, a Qiagen company, Neihaus research fellow, Memorial Sloan Kettering Cancer Center

Sohela has a PhD in genetics from the Sackler School of Biomedical Sciences at Tufts University. After completing her postdoc in Human Genetics at University of California San Francisco, she joined Memorial Sloan Kettering Cancer Center as Neihaus fellow. She came to Ingenuity in 2013 as a Field Application Scientist.

Cecile Janssens, PhD
Research Professor of Epidemiology, Emory University

Cecile Janssens is professor of translational epidemiology in the department of Epidemiology of the Rollins School of Public Health, Emory University, Atlanta, USA. Her research concerns the translation of genomics research to applications in clinical and public health practice. Her work focuses on the prediction of multifactorial diseases (e.g. diabetes, cardiovascular disease, asthma) using genetic risk models and on the assessment of the predictive ability and utility of genetic testing. She recently co-chaired a workshop that developed reporting guidelines for genetic risk prediction studies, the GRIPS Statement, and chaired a workshop for the European Commission that proposed quality criteria for health checks. Cecile Janssens has published over 150 papers in international scientific journals. She is a lecturer in graduate and post-graduate courses in local, national and international programs, and coordinates a summer course on Translational Research in Genomic Medicine at Emory. Before moving to the USA, she was chair of the Dutch Association of Community Genetics and Public Health Genomics and board member of the Netherlands Association for Human Genetics. She still is an active member of the Health Council of the Netherlands.

Genetics and Genomics

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BioConference Live is the worlds largest producer of online-only conferences focused on the life sciences, laboratory animal sciences and clinical diagnostics community produced by LabRoots. BioConference Live brings together research scientists, veterinarians, clinicians, medical experts, thought leaders and professionals from around the world all exclusively online.

Aviva Systems Biology provides our customers with an extensive collection of quality antibodies for research and diagnostic applications.Aviva currently offers antibodies to more than 7,000 different protein targets due to our high throughput antibody production releases more than 200 new antibodies every month.Aviva's focus is antibodies to key targets in areas of transcription, epigenetics and cell signaling.Aviva's antibody collection includes unique antibody content to many targets that are not commercially available elsewhere.We place our emphasis on family-oriented antibody production has yielded antibodies to most members of key protein families such as Transcription Factors, Transcription Regulators, RNA Binding Proteins, Ion Channels, and Cell Membrane target proteins.

CHI is the preeminent life science network for leading researchers and business experts from top pharmaceutical, biotech and academic organizations. CHIs portfolio of products includes Cambridge Healthtech Institute Conferences, Insight Pharma Reports, Cambridge Marketing Consultants, Barnett Educational Services, Cambridge Meeting Planners and CHIs Media Group, which includes news websites and e-newsletters including Bio-IT World and Clinical Informatics News.

Recommendations of the best research articles in biology and medicine from a faculty of global experts.F1000Prime filters the literature and highlights top articles as recommended by our faculty of ~6,000 expert scientists and clinical researchers, covering over 40 disciplines. Articles are rated and the faculty provide commentaries to explain why they recommend each article.F1000Journal Clubs, an integral part of F1000Prime, encourages and facilitates scientists to discuss articles and share their conclusions.

Biocompare (www.biocompare.com) is the leading resource for up-to-date product information, product reviews, and new technologies for life scientists. Biocompare combines an in-depth knowledge of life science products and new technologies with the power of the Internet to offer scientists the most dynamic, relevant, and innovative media-based marketplace for life science information. Produced by scientists, Biocompare's mission is to provide free, time saving services to life science researchers, allowing scientists to find and learn about the technologies that drive discovery. Biocompare does this by providing specialized search tools, articles, product reviews, webinars, videos and technology spotlights all designed to ensure that Biocompare remains a trusted and comprehensive source of product information. Biocompare continually strives to serve the life science community by providing new and improved online services that facilitate product discovery and technology education.

BioMed Central is an STM (Science, Technology and Medicine) publisher of 265 peer-reviewed open access journals. The portfolio of journals spans all areas of biology, biomedicine and medicine and includes broad interest titles, such as BMC Biology and BMC Medicine alongside specialist journals, such as Retrovirology and BMC Genomics. All original research articles published by BioMed Central are made freely accessible online immediately upon publication. BioMed Central levies an article-processing charge to cover the cost of the publication process. Authors publishing with BioMed Central retain the copyright to their work, licensing it under the Creative Commons Attribution License which allows articles to be re-used and re-distributed without restriction, as long as the original work is correctly cited. BioMed Central is owned by Springer Science+Business Media, and also hosts the SpringerOpen platform.

Pittcon is the worlds largest annual premier conference and exposition on laboratory science. It is organized by The Pittsburgh Conference on Analytical Chemistry and Applied Spectroscopy, a Pennsylvania not-for-profit educational corporation which is comprised of the Spectroscopy Society of Pittsburgh (SSP) and the Society for Analytical Chemists of Pittsburgh (SACP).

PharmaVOICE.com is a Website for life-sciences executives and other healthcare-service related professionals. PharmaVOICE.com is produced by PharmaLinx LLC, publishers of PharmaVOICE magazine and the VIEWs.

Genetics and Genomics

Program Committee

Click here to download the Program Committee brochure

Alan Wright, MD

Dr. Wright is the Chief Medical Officer at Roche Diagnostics Corporation in Indianapolis, Indiana.  Prior to joining Roche, Dr. Wright served as Senior Vice President of Health Improvement Strategies for Miraca Life Sciences.   He was the Vice President for Product Strategy and Business Development for Resolution Health, a privately held analytics and intervention company serving the managed care market place.  Until 2005, Dr. Wright was chairman and CEO of Star Pharmaceuticals, a generic pharmaceutical company he founded in 2002, serving the needs of the urological community.  Previously, he was Senior Vice President and Chief Science Officer of Caremark .  Dr. Wright also served as Senior Vice President and Chief Medical Officer for AdvancePCS. 

Dr. Wright graduated magna cum laude with a Bachelor of Science degree from Pennsylvania State University.  He received his medical doctorate from the University of Pennsylvania and completed his residency in internal medicine at Temple University in Philadelphia.  While at Temple he served as Chief Medical Resident from 1985 to 1986 and completed his Masters of Public Health degree at Johns Hopkins School of Hygiene and Public Health.  Dr. Wright is a member of several journal editorial boards.  He is a member of the American Medical Association and American College of Physicians.  He is also certified as a diplomat to the American Board of Internal Medicine and the National Board of Medical Examiners.

Ross J Molinaro, PhD, MT(ASCP), DABCC, FACB

Ross J. Molinaro, PhD, MT(ASCP), DABCC, FACB is an Assistant Professor

in the Department of Pathology and Laboratory Medicine at Emory

University. He received his PhD in Clinical Chemistry and Molecular

Medicine from Cleveland State University and completed the ComACC

training program at Emory as the first recipient of the AACC

Past-Presidents’ Scholarship. He currently serves as the Medical

Director of the Core Laboratory at Emory University Hospital Midtown and

co-Director of the Emory Clinical Translational Research Laboratory.

Ross also teaches various aspects of laboratory medicine to medical

students, pathology residents and fellows, clinical chemistry fellows,

and medical technology students.

Ross joined the AACC in 2005 and is a member of the Proteomics and

Clinical Translational Science Divisions. Ross is currently a committee

member of the Society for Young Clinical Laboratorians (SYCL). He is

also a member of the Professional Practice Review Course Curriculum

Organizing Committee and the Clinical Chemistry Trainee Council

Executive Committee as the Exam Questions Vault Coordinator. In

addition, Ross serves as an American Society for Clinical Pathology

(ASCP) Board Liaison to the Clinical Chemistry Examination Committee,

and a member of the Board of Governors as the ASCP/AACC Member

Representative. With over 40 publications and book chapters, his

interests reside in the practice and standardization of mass

spectrometry in the clinical laboratory and expanding the knowledge base

of clinical chemistry and laboratory medicine for medical students and

those practicing in different healthcare disciplines.

Paul Mathews, PhD

Dr. Paul J. Mathews received his bachelors degree from the University of Oregon where he studied invertebrate behavioral plasticity in the lab of Dr. Nathan Tublitz. He received his Ph.D. in neuroscience from the University of Texas at Austin under the mentorship of Dr. Nace Golding. Dr. Mathews work focused on understanding how the biophysical properties of specific voltage-gated ion channels in an auditory brainstem nuclei contribute to their capacity to make sub-millisecond computations necessary for low frequency sound localization. For the past several years Dr. Mathews has been working at UCLA under the mentorship of Dr. Tom Otis where he is currently working to uncover the cerebellar circuit mechanisms that underlie motor learning and memory. To do this Dr. Mathews is utilizing a multifaceted approach that includes both in vitro and in vivo electrophysiology, optogenetics, advanced optics, histology, and behavioral manipulations to make links between cerebellar circuit activity and motor output in rodent models. He is currently on the job market looking for a tenured track assistant professor position.

Tatjana Matejic, PhD, D(ABMLI)

Dr. Matejic is the founder of Biotech Expertise where she provides scientific and technical consulting services to biotech companies on development of functional assays reflective of mechanisms of drug action in the context of disease pathology, in vivo studies, and biomarkers.  She is an immunologist by training (Ph.D. in immunology, board certification in medical diagnostic immunology by the American Board of Medical Laboratory Immunology) with more than two decades of industrial experience working in research and development of Biotech/Pharma companies ranging from start-ups to multinational pharmaceutical corporations, Pfizer being the most recent one.  During her long career in industry she led and mentored diverse teams of scientists and contributed to all stages of project and product development from scientific idea to commercial product of diverse portfolio of biologics. She was recognized as a leader in development and implementation of strategies for evaluating biological function of therapeutic candidates. She contributed to efforts of interdisciplinary drug development teams to successfully advance numerous early and late stage clinical programs and a few commercial products across multiple therapeutic areas and disease targets. She also conducted technical diligence for transition of pipeline projects from discovery to development phase, as well as for technology assessment for in-licensing opportunities.

Mark Marzinke, PhD, BABCC

Mark Marzinke, PhD, DABCC earned a Ph.D. in Biochemistry from the University of Wisconsin-Madison and subsequently completed a clinical chemistry fellowship at The Johns Hopkins University in 2012. During his clinical fellowship, Dr. Marzinke focused on the development and validation of qualitative and quantitative mass spectrometric assays for the clinical monitoring and quantitation of pain management drugs and anti-neoplastic agents, respectively. Further, he performed large scale proteomics studies aimed at the temporal identification of biomarkers expressed during ovarian cancer progression. Dr. Marzinke is currently an Instructor in the Departments of Pathology and Medicine at the Johns Hopkins University School of Medicine (JHUSOM).  He serves as the Director of Preanalytics and General Chemistry in the Core Laboratory of the Johns Hopkins Hospital, where he focuses on workflow analysis and test utilization.  Additionally, he is the Associate Director of the Clinical Pharmacology Analytical Lab (CPAL) at the JHUSOM, where he focuses on the development and validation of quantitative mass spectrometric methods in rare matrices to support large clinical trials.   His research interests include the development, validation and implementation of assays focused on personalized medicine, including therapeutic drug monitoring and pharmacogenetic testing.  Dr. Marzinke is board certified by the American Board of Clinical Chemistry.

Alan Maisel, MD

Dr. Alan Maisel  attended University of Michigan Medical School and did his cardiology training at the University of California at San Diego.  He is currently Professor of Medicine at the University and director of the coronary care unit and the heart failure program at the affiliated Veterans Affairs Medical Center. He is considered one of the worlds experts on cardiac biomarkers, and is given credit for ushering in the use of BNP levels in clinical practice around the world. He has over 300 articles in print and a large clinical and basic science lab.  Dr. Maisel is also a fixture at the medical school, where he has won countless teaching awards from medical students as well as interns and residents. Dr Maisel s yearly San Diego Biomarker meeting is considered the most prestigious of its kind. Dr. Maisel is currently an Associate Editor of the Journal of American College of Cardiology.  He has published two medical novel and helps to raise five children,  He gave up on sleep five years ago.

Ariel Louwrier Ph.D.

Dr. Louwrier has successfully brought strategic vision coupled with tactical operational success to positions he has been employed at throughout his career. He is an entrepreneur with a broad range of experience in a variety of scientific fields as well as excelling in executive management in the biotechnology industry. Growing up in Europe gained him the sound knowledge of multiple languages after which he moved to the UK for his undergraduate work at the University of Sussex, specializing in genetics and heat shock. This was followed by doing his PhD in Biochemistry and Biotransformations at the University of Kent at Canterbury, also in the UK. He worked in conjunction with SmithKline Beecham (now GSK) resulting in biosynthetic methods of amoxicillin production that have since been integrated into current manufacturing processes.  Ariel then went on to work at the Massachusetts Institute of Technology (MIT) in the field of non-aqueous enzymology and protein engineering in the Chemical Engineering Department. Later, returning to the UK he joined ABgene (now a Thermo Fisher portfolio company), in 1995. Shortly thereafter Ariel started StressMarq Biosciences Inc., a new reagent cellular-stress company, which continues to provide researchers worldwide with the highest quality heat shock and cellular stress reagents.

Martin Latterich, PhD

Dr. Latterich has nearly 20 years of academic and commercial and leadership experience and features an accomplished research career focused on the proteomics-based discovery of novel biomarkers in oncology, respiratory disease and neurodegenerative disorders.

Martin is currently CSO at BioScale, a Lexington, MA, based biotechnology corporation commercializing a novel acoustic biomarker quantification platform. Most recently Martin served as a Professor at the Proteogenomics Research Institute for Systems Medicine in San Diego, where his laboratory used proteomics and genomics to discover novel biomarkers of cancer and degenerative disease though a systems biology approach that includes proteomics. He is also the CSO, co-founder and a board member for the non-profit Nicholas Conor Institute for Pediatric Cancer Research. Martin's work at the institute included designing new technologies to enable the better treatment of children with cancer, using personalized medicine technology to match their unique genetic make-up and tumor physiology to available treatment options. He previously served on the faculty of the University of Montreal, McGill University and the Salk Institute. His grant-funded work has been recognized by the 2003 Tier I Canada Research Chair, the 1998 Pew Scholar Award and the 1997 Basil O'Connor Starter Scholar Award.

Dr. Latterich also held senior management positions at several biotechnology companies, including Diversa and Illumina, where he headed the proteomics initiatives. He has made significant contributions to the field of cell biology, clinical biomarker discovery, proteomics and genomics. Among his recent discoveries are biomarkers for cancer, respiratory disease and neurodegenerative disorders. Dr Latterich has edited one book on RNAi, is author on over 34 publications in leading scientific journals and is listed on numerous patent applications. Martin is Editor-in-Chief of the scientific journal Proteome Science. He has served on several national and international study sections. He was a postdoctoral fellow in molecular and cell biology in the laboratory of Dr. Randy Schekman at the HHMI and University of California, Berkeley. Dr. Latterich earned his Ph.D. in cell biology and a B.Sc. in biochemistry and molecular biology from Durham University, U.K.

Fred Russell Kramer, PhD

Fred Russell Kramer is Professor of Microbiology and Molecular Genetics at the New Jersey Medical School, and has been a Principal Investigator at the Public Health Research Institute for the past 25 years. He graduated from the University of Michigan in 1964 and received his doctorate from the Rockefeller University in 1969. He was on the faculty of the Department of Genetics and Development at Columbia University College of Physicians and Surgeons for 17 years and has been a Research Professor and Adjunct Professor in the Department of Microbiology at New York University School of Medicine for the past 24 years.

Kamisha Johnson-Davis, PhD, DABCC, FACB

Dr. Johnson-Davis is a medical director of the Clinical Toxicology laboratory, Antifungal Testing and Immunosuppressants Testing at ARUP. Dr. Johnson-Davis received her PhD in pharmacology at the University of Utah and is board certified in clinical chemistry by the American Board of Clinical Chemistry. She completed her postdoctoral fellowship in clinical chemistry at the University of Utah, Department of Pathology, and was a postdoctoral research associate at the Center of Human Toxicology at the University of Utah. Dr. Johnson-Davis is a member of various professional societies, including the Academy of Clinical Laboratory Physicians and Scientists and the American Association for Clinical Chemistry.

Daniel Irimia, MD, PhD

Dr. Irimia is an Assistant Professor in the Department of Surgery at the Massachusetts General Hospital, Shriners Hospitals for Children in Boston, and Harvard Medical School.  He is leading a research program that is focused on studying the roles of cellular migration in health and disease.  Dr. Irimia is interested in probing the role of cancer cell migration during cancer invasion and tumor metastasis.  He is also very interested in understanding how the ability of white blood cells to move and protect against microbes is being affected during the systemic inflammation responses after burn and trauma injuries.  For this research, he is employing the most advanced microscale technologies which enable us to design new tools and measure cell migration with better precision than ever before.

Michael Holick, MD, PhD

Michael F. Holick, Ph.D., M.D. is Professor of Medicine, Physiology and Biophysics; Director of the General Clinical Research Unit; and Director of the Bone Health Care Clinic and the Director of the Vitamin D, Skin and Bone Research Laboratory at Boston University Medical Center.

Dr. Holick has made numerous contributions to the field of the biochemistry, physiology, metabolism, and photobiology of vitamin D for human nutrition. Dr. Holick has established global recommendations advising sunlight exposure as an integral source of vitamin D.  He has helped increase awareness in the pediatric and medical communities regarding vitamin D deficiency pandemic, and its role in causing not only metabolic bone disease, and osteoporosis in adults, but increasing risk of children and adults developing common deadly cancers, schizophrenia, infectious diseases including TB and influenza, autoimmune diseases including type 1 diabetes and multiple sclerosis, type 2 diabetes, stroke and heart disease. He also observed the pregnant women who were vitamin D deficient were at increased risk for preeclampsia and requiring a C-section.  He has written more than 300 pier reviewed articles, edited or wrote 12 books including The Vitamin D Solution and is the recipient of numerous awards including the Linus Pauling Prize in Human Nutrition.

Howard Morris, PhD, FAACB, FFSc(RCPA)

Professor Howard Morris is Professor of Medical Sciences at the University of South Australia and a Chief Medical Scientist in Chemical Pathology at SA Pathology, Adelaide, South Australia.

He is currently Vice-President of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and Chair of the IFCC-International Osteoporosis Foundation Working Group on Standardization of Bone Marker Assays. He has over 30 years experience in Clinical Biochemistry largely managing the Endocrinology laboratory of a large public pathology service. Between 2003 and 2009 he was the Director of the Hanson Institute in Adelaide, the major medical research institute in South Australia. His research investigates the pathophysiology of osteoporosis and the effects of hormones including vitamin D and dietary calcium. He was the Louis Avioli Memorial Lecturer at the 2009 Annual Scientific Meeting of the American Society for Bone and Mineral Research. He is also Chair of the South Australian Department of Health Working Party on Osteoporosis and Fracture Prevention.

Judd Moul, MD, FACS

Dr Judd W. Moul is James H. Semans, MD Professor of Surgery, Division of Urologic Surgery, and Director of the Duke Prostate Center, Duke Cancer Institute at Duke University Medical Center.  Prior to joining Duke, he was Professor of Surgery at the Uniformed Services University of the Health Sciences (USUHS) in Bethesda, Maryland and an attending Urologic Oncologist at the Walter Reed Army Medical Center (WRAMC) in Washington, DC.  In addition, he was Director of the Center for Prostate Disease Research (CPDR); a Congress-mandated research program of the Department of Defense based at USUHS and WRAMC.  In 2004, he completed a 26-year U.S. Army career, retiring as a full Colonel in the Medical Corps, and became Chief of the Division of Urologic Surgery at Duke.  Serving as Chief from 2004 to 2011, he brought innovation and growth to the program.  Most notably, he started the Duke Prostate Center, expanded the urology residency training program through a novel collaboration with the Department of Defense and was able to maintain Duke Urology as a top 10 program in the nation throughout his tenure.

Dr Moul completed his Urologic Oncology Fellowship at Duke University and graduated Summa Cum Laude from Pennsylvania State University.  He earned his medical degree from Jefferson Medical College, where he was elected to Phi Beta Kappa and Alpha Omega Alpha.

Dr Moul currently serves on the editorial boards of Prostate Cancer, Prostate Cancer and Prostatic Diseases, BJU International, American Journal of Mens Health, Brazilian Journal of Urology, World Journal of Urology, and Oncology REALTIME.  He has published over 500 medical and scientific manuscripts and book chapters and has lectured at national and international meetings.  He has appeared on ABC, NBC, CNN, PBS, and other media as a prostate cancer authority.  Honors and awards received have included the American Medical Associations Young Physicians Section Community Service Award for his national involvement in prostate cancer patient support groups, the Sir Henry Welcome Research Medal and Prize from the Association of Military Surgeons of the United States, the prestigious Gold Cystoscope Award by the American Urological Association, the Baron Dominique Jean Larrey Military Surgeon Award for Excellence, the Order of Military Medical Merit from the Surgeon General at the US Army, and the Castle Connolly National Physician of the Year award.

Stephanie Willerth, PhD

Dr. Willerth currently holds a Canada Research Chair in Biomedical Engineering at the University of Victoria where she is dually appointed in the Department of Mechanical Engineering and Division of Medical Sciences. Her research group investigates how to engineer neural tissue by combining pluripotent stem cells, controlled drug delivery and biomaterial scaffolds . She has given invited talks at the Till and McCulloch Annual Meeting and at the 1st Annual British Columbia Stem Cell and Regeneration Medicine Initiative Meeting as well as presented at the 9th Annual World Biomaterials Congress in Chengdu, China. She belongs to both the Brain Research Centre (BRC) and the International Collaboration on Repair Discoveries (ICORD) - B.C. based organizations committed to treating brain diseases and disorders and finding long term treatments for the repair of spinal cord injuries respectively. Before accepting her faculty position, Dr. Willerth completed an NIH post doctoral fellowship  at the University of California-Berkeley and graduate studies at Washington University.

Kathryn Wellen, PhD

Dr. Kathryn Wellen received a PhD from Harvard University in 2006 and performed postdoctoral work at the University of Pennsylvania from 2006-2011.  In 2011 she joined the Department of Cancer Biology at the University of Pennsylvania as an Assistant Professor.  She is a 2012 Pew Scholar in the Biomedical Sciences and is a recipient of a 2012 Forbeck Scholar Award.  Her laboratorys research focuses on elucidating links between cellular metabolism and signaling, with a current emphasis on metabolic regulation of the epigenome.

Bart C. Weimer, PhD
Sihe Wang, PhD DABCC FACB

Dr. Sihe Wang is Section Head and Medical Director of Clinical Biochemistry and Director of Clinical Biochemistry Fellowship Training Program, Cleveland Clinic, Cleveland, Ohio.  He also chairs the clinical chemistry integration effort for the Cleveland Clinic Health System which includes 1 Florida hospital, 8 community hospitals and 18 family health centers in Northeast Ohio. Additionally, he is Clinical Chemistry Professor, Cleveland State University.  Prior to his current position, Dr. Wang was Assistant Professor at Northwestern University; Director, Clinical Chemistry Laboratory and Referred Testing Laboratory, Children’s Memorial Hospital, Chicago, Illinois. Dr. Wang is a diplomate of the American Board of Clinical Chemistry (DABCC) and a fellow of the National Academy of Clinical Biochemistry (FACB).

Dr. Wang is a member of several professional organizations, including the American Society for Mass Spectrometry and the American Association for Clinical Chemistry (AACC). He served as chair of AACC Northeast Ohio Section in 2008 and 2009 and the president of North American Chinese Clinical Chemistry Association (NACCCA) 2008-2009. Currently he serves as the historian for NACCCA, the treasurer for the Pediatric and Maternal Fetal Division of AACC, the delegate for AACC Northeast Ohio section, commissioner for The Commission on Accreditation in Clinical Chemistry (ComACC), and a member of AACC's Strategies Online Editorial Advisory Board. The AACC presented him with the 2005, 2008, and 2010 Clinical Chemist Recognition Award. He is also the recipient of the 2006 Lemuel J. Bowie Young Investigator Award for the Chicago Section of the AACC. Dr. Wang has authored over 140 journal articles, book chapters, and abstracts. He also serves on several editorial boards of peer reviewed journals.

Katerina Venderova, PharmD, PhD

Dr. Katerina Venderova obtained her master's and doctorate degrees in pharmacy, and her PhD in Toxicology from Charles University in the Czech Republic. She then received a fellowship from the Parkinson Society Canada and pursued her postdoctoral training at Toronto Western Research Institute (2 years), and subsequently at University of Ottawa in Canada (5 years), where she studied genetics of Parkinson's disease, mechanisms of neuronal death and cell signaling in the basal ganglia. Dr. Venderova joined Pacific in 2011.

Leigh Anne Swayne, PhD

Leigh Anne Swayne is a basic cell and molecular neurobiologist. After training in Canada and France, she started her independent research lab in January 2011 in the Division of Medical Sciences at the University of Victoria, in Victoria, BC Canada. Leigh Anne's work focuses on the role of ion channels in shaping postnatal neurogenesis. She combines biochemistry, proteomics, cell biology, electrophysiology, and microscopy to understand how ion channels direct this postnatal developmental process. Her lab's  ultimate goal is to find effective ways of boosting brain repair following injury or disease.

Joely Straseski, PhD, MS, MT(ASCP), DABCC

Dr. Straseski is a medical director of endocrinology at ARUP Laboratories and an assistant professor of pathology at the University of Utah School of Medicine. She received her PhD in pathology and laboratory medicine and a Master’s degree in bacteriology from the University of Wisconsin-Madison, where she also served as a postdoctoral associate in the Department of Pathology. Dr. Straseski completed a postdoctoral fellowship in clinical chemistry at the Johns Hopkins Medical Institutions in Baltimore, Maryland. She has previously been awarded the Past-President Scholarship by the American Association for Clinical Chemistry, as well as a Distinguished Abstract Award from the National Academy of Clinical Biochemistry. Dr. Straseski is board certified in clinical chemistry by the American Board of Clinical Chemistry.

Ahmad Salehi, MD, PhD

Ahmad Salehi, M.D., Ph.D. is a Clinical Associate Professor at the Department of Psychiatry and Behavioral Sciences, Stanford Medical School and the Director of the Translational Laboratory at the VA Palo Alto Health Care System in California. He obtained his MD in Tehran, Iran and then moved to the Netherlands Institute for Brain Research, in Amsterdam to get his PhD. While he was there, he was selected as the best junior scientist in the field of Alzheimers disease in the Netherlands. After finishing his graduate studies and 3 years of postdoc in Amsterdam, he moved to Stanford Medical School. First as a postdoc, and then as a Senior Research Associate, he worked on mechanisms of failed axonal transport in mouse models of Down syndrome. For almost a decade, he was the Director of Stanford Brain Bank. Since 2009, Dr. Salehi has moved to the Department of Psychiatry and Behavioral Sciences at Stanford. In December 2010, he received the World Technology Award in the field of Biotechnology for his innovative work on the use of mouse models of Down syndrome. During his carrier, Ahmad has been involved in publication of a large number of papers from which several have appeared on the cover of Science, Cell: Stem Cell, Science Translational Medicine, Neuroscience and Bio-behavior Reviews, and Biological Psychiatry (twice).

Amy K Saenger, PhD, DABCC, FACB

Dr. Amy Saenger is an Assistant Professor of Laboratory Medicine and Pathology at the Mayo Clinic College of Medicine and Director of Cardiovascular Laboratory Medicine in the Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, Minn. She is the Director of the Clinical Chemistry Fellowship Program and is actively involved in training fellows, pathology residents, and allied laboratory health staff. She also serves as a Director on the Commission on Accreditation in Clinical Chemistry (ComACC) board and is an Associate Editor for the journal Clinical Chemistry. Dr. Saenger received her PhD in Analytical Chemistry from the University of Minnesota. She completed her clinical chemistry fellowship training at the University of Washington and is board certified in clinical chemistry (DABCC). 

Her research has focused on cardiac biomarkers such as troponin and natriuretic peptides, as well as novel biomarkers for the detection of oxidative and cardiovascular stress, damage, and heart failure. Dr. Saenger has been honored with the AACC Outstanding Scientific Achievements by a Young Investigator Award, the NACB George Grannis Award for Excellence in Research and Scientific Publication, the Paul E. Strandjord Young Investigator Award from the Academy of Clinical Physicians and Scientists, the Strandjord/Clayson Award for Meritorious Research from the University of Washington, and the AACC Outstanding Speaker Award. She serves on several AACC committees including the Clinical Laboratory News board of editors, the Society for Young Clinical Laboratorians executive committee, and is currently past-chair of the AACC Midwest Section.

Andrea Rose, PhD, MBA

Andrea Rose, Ph.D., M.B.A. serves as Senior Clinical Support Consultant

for Roche Diagnostics.  Dr. Rose is a Clinical Biochemist and has served

in a variety of management positions throughout her career. 

Dr. Rose obtained her Ph.D. in Biochemistry from the University of

Louisville in Louisville, Kentucky, and then completed  postdoctoral

fellowships in Clinical Biochemistry, and Developmental and Molecular

Neurobiology.  After her association with University Hospital and the

University of Louisville Department of Pathology, Dr. Rose accepted a

position with Boehringer Mannheim Corporation which was acquired by

Roche Diagnostics.  Dr. Rose also obtained a Masters in Business

Administration from Indiana Wesleyan University while working for

Roche. 

Dr. Rose has written the chapter on Glycated Hemoglobin for the past

two editions of Kaplan and Pesce’s Methods in Clinical Chemistry and

lectures extensively in the area of diabetes testing.   Other interests

and lecture topics in addition to diabetes are obesity, nutrition, assay

interferences and sources of preanalytical and analytical error.   Dr.

Rose continues to be active in several professional organizations

serving on boards and committees for the advancement of clinical

laboratory initiatives.

James H. Nichols, Ph.D., DABCC, FACB

Jim received his B.A. in General Biology/Premedicine from Revelle College, University of California at San Diego. He went on to complete a Master's and Doctorate in Biochemistry from the University of Illinois, Urbana-Champaign.  Dr. Nichols was a fellow in the Postdoctoral Training Program in Clinical Chemistry at the Mayo Clinic, Rochester, MN.  He is board certified in both Clinical Chemistry and Toxicological Chemistry by the American Board of Clinical Chemistry.  Dr. Nichols spent several years as Associate Director of Clinical Chemistry, Director of Point-of-Care Testing, and an Associate Professor of Pathology at Johns Hopkins Medical Institutions prior to moving to Massachusetts. Baystate Health includes Franklin Medical Center, Mary Lane Hospital and Baystate Medical Center, a leading acute care center in New England. Dr. Nichols’ research interests span evidence-based medicine, information management, laboratory automation, point-of-care testing and toxicology.

Bruce Hollis, PhD

Bruce W. Hollis, Ph.D. received his B.Sc. and M.Sc. from the Ohio State University and subsequently his Ph.D. from the University of Guelph in 1979. Dr. Hollis then completed an Endocrine Fellowship at The Case Western Reserve University School of Medicine in 1982.  Dr. Hollis was then Appointed Assistant Professor of Nutrition at Case Western and remained there until 1986 when he moved to The Medical University of South Carolina where to he is Professor of Pediatrics, Biochemistry and Molecular Biology. He is also Director of Pediatric Nutritional Sciences. Dr. Hollis has studied vitamin D metabolism and nutrition for the past 35 years and has been an NIH grant recipient for the past 30 years. His current work focuses on the vitamin D requirements during pregnancy and lactation. Dr. Hollis has in excess of 200 peer reviewed articles in this area of investigation.

Ulrich Hengst, PhD

Dr. Ulrich Hengst studied biochemistry at the Ruhr University Bochum, Germany, and conducted his graduate research at the Friedrich Miescher Institute for Biomedical Research in Basel, Switzerland, in the group of Prof. Denis Monard. In 2003 he received his PhD from the University of Basel. For his postdoctoral training, Dr. Hengst joined the laboratory of Samie R. Jaffrey, MD, PhD at the Weill Cornell Medical College in New York, NY. In Dr. Jaffreys group, he investigated the role of axonally localized mRNAs for axonal development leading to the identification of the first examples of specific mRNAs that are translated in axons in response to extracellular signaling molecules and that mediate growth cone collapse and axon elongation, respectively.

In 2009, Dr. Hengst joined the Department of Pathology and Cell Biology and the Taub Institute for Research on Alzheimers Disease and the Aging Brain at Columbia University Medical Center in New York, NY, as an Assistant Professor. He has successfully established new research projects addressing the role of local protein synthesis in Alzheimers disease and neurodevelopment.

Anthony Grace, PhD

Dr. Anthony A. Grace is a Distinguished Professor of Neuroscience and a

Professor of Psychiatry and Psychology at the University of Pittsburgh

in Pittsburgh, PA.  He received his Ph.D. from Yale University School of

Medicine with Dr. Benjamin S. Bunney and had postdoctoral training with

Dr. Rodolfo Llinas in the Department of Physiology and Biophysics at

New York University School of Medicine.  Dr. Grace has been involved in

translational research related to the dopamine system for over 30

years.   His early work pioneered the mode of action of antipsychotic

drugs, and the identification and characterization of

dopamine-containing neurons, and was the first to provide a means to

quantify their activity state and pattern in a way that is the standard

in the literature.  His current work involves novel treatments for

schizophrenia and its prevention, the role of dopamine in anhedonia and

affective disorders, and the mode of action of ketamine and novel

antidepressant drugs.  Dr. Grace has received several awards for his

research, including the Paul Janssen Schizophrenia Research Award and

the Lilly Basic Scientist Award from the International College of

Neuropsychopharmacology, the Efron Award from the American College of

Neuropsychopharmacology, as well as a NIMH MERIT award, a Distinguished

Investigator award from the National Alliance for Research in

Schizophrenia and Depression, the Judith Silver Memorial Investigator

Award from the National Alliance for the Mentally Ill, a Fellow of the

American Association for the Advancement of Science, and appointment as a

Distinguished Professor of Neuroscience at the University of

Pittsburgh.  He is also a past member of the governing council of the

American College of Neuropsychopharmacology and is on the editorial

board fornumerous leading journals in the field.

R. Claudio Aguilar, Ph.D.
Theral Timpson

Theral is the host of Mendelspod, where he interviews thought leaders from around the life science community.  He's a regular blogger at Mendelspod and frequent speaker and emcee at life science conferences and related events.  Theral is an active mentor in Silicon Valley for those seeking careers in science and or media.  He's the President and owner of Theral Timpson Productions where he offers consulting for life science marketing, strategic planning, and conflict resolution.   Mr. Timpson has over 15 years experience establishing and growing companies in the life science industry, including President and Co-Founder of Consumer Genetics and Vice President of Marketing at Medax International.     He received training from the E. Goldratt Institute in Theory of Constraints and holds a B.A. degree in English Literature from the University of Utah.

Deanne Taylor, MS, PhD

Dr. Taylors background is in biophysics, bioinformatics, computational biology and structural biology with emphasis on human genetics and translational medicine. She obtained her Ph.D. in Biophysics from  the University of Michigan, Ann Arbor, and completed a postdoctoral fellowship at Pfizer in Ann Arbor. She had worked in the pharmaceutical industry at EMD-Serono, transitioning into clinical and basic research by moving to Harvard School of Public Health and then to clinical research at RWJ/Rutgers.  She also served several years as the Program Director of the Graduate Program in Bioinformatics at Brandeis University, where she still occasionally teaches a course in Computational Systems Biology.

Her main areas of research are in the development of mathematical and computational methods to better understand biological variation and the genetic contribution to disease, coupling clinical information with high-dimensional biomedical data from next-gen sequencing, microarray, PCR, and proteomics experiments.  Some of her immediate research interests are in  development of methods to better classify effects of genetic variation within interacting systems through effects in gene function and contributions to disease, developing  mathematical genotype representations of variation in populations,  and using machine-learning techniques to build classifiers in  translational medicine research. Her  scientific contributions were acknowledged with the rest of the Divisions research team at the 2010 ASRM meeting when the REI division received the ASRM Prize Paper Award, where her contribution was in building databases, systems and validated methods for high-throughput genotype analyses .

John Quackenbush, PhD

John Quackenbush received his PhD in 1990 in theoretical physics from UCLA working on string theory models. Following two years as a postdoctoral fellow in physics, Dr. Quackenbush applied for and received a Special Emphasis Research Career Award from the National Center for Human Genome Research to work on the Human Genome Project. He spent two years at the Salk Institute and two years at Stanford University working at the interface of genomics and computational biology. In 1997 he joined the faculty of The Institute for Genomic Research (TIGR) where his focus began to shift to understanding what was encoded within the human genome. Since joining the faculties of the Dana-Farber Cancer Institute and the Harvard School of Public Health in 2005, his work has focused on the use of genomic data to reconstruct the networks of genes that drive the development of diseases such as cancer and emphysema.

C Jimmy Lin, MD, PhD, MHS

Jimmy Lin, MD, PhD, MHS, is a 2012 TED Fellow and Founder & President of Rare Genomics Institute, the world's first platform to enable any community to leverage cutting-edge biotechnology to advance understanding of any rare disease. Partnering with 18 of the top medical institutions, such as Harvard, Yale, Johns Hopkins, and Stanford, RGI helps custom design personalized research projects for diseases so rare that no organization exists to help. Dr. Lin is also a medical school faculty member at the Washington University in St. Louis and led the computational analysis of the first ever exome sequenching studies for any human disease at Johns Hopkins. He has numerous publications in Science, Nature, Cell, Nature Genetics, and Nature Biotechnology, and has been featured in Forbes, Bloomberg, Wall Street Journal, Washington Post, and the Huffington Post.

Agnieszka Lichanzka Ph.D.

Agnieszka is currently a Staff Scientist and Laboratory Manager at TessArae, LLC in Sterling, VA, USA. She obtained her PhD at the University of Queensland in Australia in a field of biochemistry, and subsequently worked as a post-doctoral fellow at Queen's University of Belfast, University of Queensland and Institute for Molecular Biosciences. Since 2005 until 2008 she held a continuing appointment as a lecturer in a School of Dentistry at the University of Queensland and established her own laboratory in area of functional genomics and metabonomics. She has over 10 years of experience in molecular biology, genetics, genomics, biochemistry, microbiology and metabonomics. In addition she has experience as a science writer. Recently Agnieszka served on the Council of the Australian Society for Biochemistry and Molecular Biology and is still active in the society. Currently she is working on novel diagnostic assays for infectious diseases using microarray re-sequencing technology.

Timothy Harris, PhD

Since June 2011, Dr. Harris has served as the Senior Vice President of Translational Medicine at Biogen Idec. Dr. Harris has served as the Director of the Advanced Technology Program at SAIC Frederick since 2007 and Chief Technology Officer for SAIC Frederick since 2008. Prior to holding these positions, he served as the President and Chief Executive Officer of Novasite Pharmaceuticals Inc. from January 2005 to September 2006. Prior to that, he served as Chief Executive Officer for Structural GenomiX, Inc., a drug discovery and development company focused on innovative cancer therapeutics from 2003 to 2004 and as its President and Chief Executive Officer from 1999 to 2003. Dr. Harris started his career in biotechnology in 1981 as a group leader in Molecular Biology at Celltech Group and from 1989 to 1993 was Director of Biotechnology at Glaxo Group Research in the U.K. From 1993 until 1999, Dr. Harris was Chief Scientific Officer and Vice President of Research and Development at Sequana Therapeutics Inc. in San Diego, which became Axys Pharmaceuticals, Inc. in 1998 and was subsequently acquired by Celera Genomics. During the past five years, Dr. Harris has served on the board of directors of Dendreon Corporationration and he currently serves on the boards of directors of Origen Therapeutics, Inc. and Gyrasol Technologies and is Chairman of the Scientific Advisory Board of Bionomics Inc. in Australia.

Wieslaw Furmaga, MD

Director, Clinical Chemistry Laboratory University Hospital

Director, General Laboratory Cancer Treatment Research Center

Director, Proteomics Laboratory UTHSC at San Antonio

Interim Director, Molecular Laboratory UTHSC at San Antonio

Associate Director, Mycology Laboratory UTHSC at San Antonio

I graduated from the Collegium Medicum at Jagiellonski University in

Poland, and subsequently completed residency program in anatomic,

clinical pathology and clinical chemistry. I have been practicing

pathology in the University of Texas Health Science Center at San

Antonio, Texas as a staff pathologist and medical director of clinical

chemistry and molecular laboratory.

I have been serving the Instrumental Resource Committee of the

College of American Pathologist (CAP) since 2008. Since 2009 I have

served for the Pharmacogenomics Committee, Educational subcommittee

working on Pharmacogenomics Educational Course. I was actively involved

in the CLSI on a project “Method Validation by using patient’s sample”.

The main scientific interest is in biomarkers for aggressive prostate

cancer as well as biomarkers for monitoring the trauma patients with

hemorrhagic shock.

Charles Cantor, PhD

Dr. Charles Cantor is a founder, and Chief Scientific Officer at SEQUENOM, Inc., which is a genetics discovery company with tools, information and strategies for determining the medical impact of genes and genetic variations.

He is also the founder of SelectX Pharmaceuticals, a drug discovery company, Retrotope, an anti-aging company, and DiThera, a biotherapeutic company.

Dr. Cantor is professor emeritus of Biomedical Engineering and of Pharmacology and was the director of the Center for Advanced Biotechnology at Boston University.  He is currently adjunct professor of Bioengineering at UC San Diego, adjunct professor of Molecular Biology at the Scripps Institute for Research, and distinguished adjunct professor of Physiology and Biophysics at UC Irvine. Prior to this, Dr. Cantor held positions in Chemistry and then in Genetics and Development at Columbia University and in Molecular Biology at the University of California at Berkeley. Cantor was educated in chemistry at Columbia College (AB) and at the University of California Berkeley (PhD).

Dr. Cantor has been granted more than 60 US patents and, with Paul Schimmel, wrote a three-volume textbook on biophysical chemistry. He also co-authored the first textbook on Genomics titled 'The Science and Technology of the Human Genome Project'.  In addition, he sits on the advisory boards of numerous national and international biotechnology firms, has published more than 450 peer-reviewed articles, and is a member of the U.S. National Academy of Sciences.

Joan W Bennett, PhD

Joan W. Bennett has been Professor II of Plant Biology and Pathology at Rutgers University since 2006. Prior to coming to Rutgers, she was on the faculty at Tulane University, New Orleans, Louisiana, for over thirty years. The Bennett laboratory studies the genetics and physiology of filamentous fungi. In addition to mycotoxins and secondary metabolites, the focus is on the volatile organic compounds emitted by fungi. These low molecular weight compounds are responsible for the familiar odors associated with the growth of molds and mushrooms. Some of them function as semiochemicals for insects while others serve as developmental signals for fungi. The Bennett lab has tested individual fungal VOCs in model systems, with the intent of providing a physiological basis for the hypothesis that volatile mold metabolites might be involved in “sick building syndrome.” For example, 1-octen-3-ol (“mushroom alcohol”) functions as a neurotoxin in Drosophila melanogaster and causes growth retardation in Arabidopsis thaliana. In other studies, we have demonstrated that living cultures of Trichoderma, a known biocontrol fungus, can enhance plant growth in the absence of physical contact between the plant and the fungus. In addition, we are investigating the potential use of fungi and their volatiles in bioenergy research. Dr. Bennett also has an active interest in fungal genomics and has been involved in genome projects for Aspergillus flavus, A. fumigatus and A. oryzae.

In addition to running a laboratory, Dr. Bennett is Associate Vice President for the Office for the Promotion of Women in Science, Engineering and Mathematics (“SciWomen”), charged with promoting the welfare of women in science, engineering, mathematics and the health professions across the three campuses of Rutgers University at Camden, New Brunswick and Newark.

Pinar Bayrak-Toydemir, MD, PhD

Dr. Bayrak-Toydemir is the medical director of the Molecular Genetics and Genomics Laboratories at ARUP and an associate professor of pathology at the University of Utah School of Medicine. Dr. Bayrak-Toydemir received her MD from the Ankara University School of Medicine in Ankara, Turkey, where she also received her PhD in human genetics. Subsequently, she completed her fellowship in clinical molecular genetics at the University of Utah. She is board certified in medical genetics.

Dr. Bayrak-Toydemir has focused her research efforts on understanding the molecular genetic characteristics of the Hereditary Hemorrhagic Telangiectasia (HHT) disease, an autosomal dominant vascular dysplasia. Her research aims to identify additional gene(s) that can cause HHT disease, to determine the roles of regulatory region mutations of known HHT genes, and to describe the genotype-phenotype correlation. In addition to HHT,  her research aims to identify gene(s) that cause various inherited vascular malformations.   She is also interested in application of next generation sequencing to molecular diagnostics.

Ottavio Arancio MD, Ph.D

Dr. Ottavio Arancio received his Ph.D and M.D. from the University of Pisa (Italy).   From 1981 to 1986 he took residency training in Neurology at the University of Verona (Italy).  Dr. Arancio has held Faculty appointments at Columbia University, NYU School of Medicine and at SUNY HSCB.  In 2004 he became Faculty member of the Dept of Pathology & Cell biology and The Taub Institute for Research on Alzheimer’s Disease and the Aging Brain at Columbia University.  His honors include the “G. Moruzzi Fellowship” (Georgetown University), the “Anna Villa Rusconi Foundation Prize” (Italy), the “INSERM Poste vert Fellowship” (France), the AHAF centennial Award (2007), the Zenith Award (2007),  the Margaret Cahn Research Award (2008), and the Edward N. and Della L. Thome Memorial Foundation Award.

Dr Arancio is a cellular neurobiologist who has contributed to the characterization of the mechanisms of learning in both normal conditions and during neurodegenerative diseases.   During the last ten years he has pioneered the field of mechanisms of synaptic dysfunction in Alzheimer’s disease.  Dr. Arancio’s laboratory has focused primarily on events triggered by amyloid protein.  These studies, which have suggested new links between synaptic dysfunction and amyloid protein, are of a general relevance to the field of Alzheimer’s disease both for understanding the etiopathogenesis of the disease and for developing therapies aiming to improve the cognitive symptoms. 

Szczepan Baran, VMD, MS

Dr. Szczepan Baran is President and Chief Operating Officer of the Veterinary Bioscience Institute, which provides online surgical and biomethodology education to laboratory animal science and veterinary communities.  He also serves in the following capacities: Course Director at Drexel University College of Medicine for the online Masters of Laboratory Animal Science Program in Philadelphia; Adjunct Faculty in the Office of Research at Wake Forest University School of Medicine; and as a member of Clinical and Laboratory Standards Institute’s Document Development Committee.  Past experiences include: Chair and Co-chair on various laboratory animal science program committees; special volunteer position at the National Cancer Institute Laboratory of Genomic Diversity; and faculty at Delaware Valley College.

Dr. Baran earned a Master of Science degree from the University of Washington, a Veterinary Medical Doctorate from the University of Pennsylvania, and a Bachelor of Science degree in Animal Science from the University of Delaware. His research interests include embryonic stem cells, the development and validation of online surgical training programs, and the development and validation of rodent laparoscopic procedures. Dr. Baran has established a freezing protocol for Nonhuman Primate Embryonic Stem cells, which has increased their survival from 5% to over 90%. Additionally, he was a contributing team member in the development of one of the first canine embryonic stem cell lines. He has pioneered new territory by demonstrating the effectiveness of online surgical training in the laboratory animal medicine field.

Pierre-Antoine Gourraud, PhD, MPH

Pierre-Antoine Gourraud is a former student of the Ecole Normale Suprieure de Lyon in France. After receiving an M.P.H. from University Paris XIII in 2002, he got his Ph.D. in Immunogenetic Epidemiology and Public Health from Toulouse University in 2005. He relocated to the United States to do his postdoctoral research in Neuroimmunogenetics of multiple sclerosis at UCSF in 2009 and joined the UCSF faculty in 2011. Dr Gourraud has established numerous research collaborations with investigators from all over the world: He develops bioinformatics resources at the National Center for Biotechnology Information (Immunogenetics markers: HLA, KIR, Microsatellites). At UCSF, he performs new generation of MS genetic association studies using massive sequencing technologies in various genetic ancestry backgrounds and continues developing software dedicated to translational digital medicine. His recent efforts have focused on the MS Bioscreen, a tablet-based navigation-system that integrates multiple dimensions of patient information including clinical evolution, therapeutic treatments, brain imaging, genomics and biomarker data.

Eric Gluck, MD, JD

Dr. Eric H. Gluck received his doctoral degree in medicine from New York Medical College in Valhalla, New York. He completed his residency at Beth Israel Medical Center in New York City and a pulmonary fellowship at the University of Utah School of Medicine in Salt Lake City, Utah. Dr. Gluck currently serves as the director of Critical Care Services at Swedish Covenant Hospital in Chicago, Illinois, and as a professor of medicine at Finch University of Health Sciences at the Chicago Medical School. Dr. Gluck is a fellow of the Society of Critical Care Medicine, American College of Chest Physicians, and the Chicago Institute of Medicine. He is a member of the American Thoracic Society, Society of Sigma Xi, Alpha Omega Alpha, and the American Society of Law, Medicine, and Ethics. He has delivered numerous lectures and co-authored many articles in the field of pulmonary critical care.

Sharon Geaghan, MD

Dr. Geaghan is Chief, Pathology at Lucile Packard Children's Hospital at Stanford, and Co-Director of Clinical Laboratories at Stanford Hospital and Clinics. She also directs the Bass Pediatric Cancer Center Laboratory at the Lucile Packard Hospital; is Director of the Point of Care Testing Program for the women and children's hospital and is Director of Stanford Clinical Laboratory at Mary L. Johnson Pediatric Ambulatory Care Center. She is an Associate Professor in the Department of Pathology and in Pediatrics at Stanford University School of Medicine, teaching medical students, residents, fellows and post-graduate continuing medical education programs.

Dr. Geaghan received her undergraduate degree at Dartmouth College and MD at Boston University School of Medicine. She received her training, including two residencies in Anatomic and Surgical Pathology and in Laboratory Medicine, at the University of California, San Francisco, where she also served as Chief Resident and was the first Hematopathology Fellow. Dr. Geaghan holds four board certifications: in Anatomic Pathology; Hematopathology; Clinical Pathology and Pediatric Pathology.

Dr. Geaghan is Chair-elect of the American Association of Clinical Chemistry Division of Pediatric Maternal Fetal Division, the largest organization of laboratory medicine professionals (2012-2014). Dr. Geaghan was recently named to the International Federation of Clinical Chemistry's Task Force on Pediatric Laboratory Medicine, and the College of American Pathologists Point of Care Testing Committee.

Dr. Geaghan serves on numerous Executive Boards, including the Medical Executive Board at Lucile Salter Packard Children's Hospital at Stanford and also serves on Advisory Boards as an avid advocate for children's health, in various national Pediatric Clinical and Laboratory Medicine Associations. She has recently been named in Top Doctors of the Year by San Jose Magazine, and in the American Registry of Outstanding Professionals.

George Fritsma, MS, MT

George Fritsma is an associate professor in Laboratory Medicine of the Department of Pathology at the University of Alabama at Birmingham.

Prof. Fritsma manages www.fritsmafactor.com, “The Fritsma Factor, Your Interactive Hemostasis Resource,” a clinical coagulation educational resource and blog. The Fritsma Factor is sponsored by Precision BioLogic, Inc, Dartmouth, Nova Scotia, Canada.

Prof. Fritsma is the continuing education editor for the Clinical Laboratory Science Journal and a member of the American Association for Clinical Chemistry publications committee. He is co-editor of Hematology Clinical Principles and Applications, 4th edition, 2012, and he is and co-author of Quick Guide to Renal Disease Testing, 2011; Quick Guide to Venipuncture, 2010; Quick Guide to Coagulation 2nd Edition, 2009; and Quick Guide to Hematology Testing, 2007, all available from the ASCLS bookstore.

Prof. Fritsma is a 40-year member of the American Society for Clinical Laboratory Science and a member of the International Society for Thrombosis and Haemostasis. He holds a bachelor’s degree in biology and chemistry from Calvin College, Grand Rapids, Michigan, a Masters in Medical Technology from Wayne State University, Detroit, and advanced course work from the University of Illinois at Chicago.

Bradley Ford, MD, PhD
David Carpentieri, MD

Dr. Carpentieri is a Medical Staff Member at Large, Pathology, Phoenix Children's Hospital and is Assistant Professor of Clinical Pathology and Pediatrics, University of Arizona and Assistant Professor of Pathology, Mayo Medical School.  His affiliations are with the American Association for Clinical Chemistry (AACC), the Childrens Oncology Group (COG), Society for Pediatric Pathology (SPP), and the International Society for Biological and Environmental Repositories (ISBER).

Cynthia Bowman MD

Dr. Cynthia Bowman has been a broad based general pathologist for over 30 years. She graduated with a BA in Chemistry from St. Olaf College, received her MD from Vanderbilt University Medical School, and trained for 6 years at the University of California, San Francisco as a surgery intern and then anatomic and clinical pathology resident. She worked as an emergency room physician during training and has always had a clinical perspective in her practices. She has worked in California, Maine, Massachusetts, New York and Australia as an anatomic and clinical pathologist and laboratory medical director in small, mid-sized, tertiary and academic  medical centers. She is currently Medical Director at Enzo Clinical Laboratories, a commercial reference laboratory and bioscience company in the NY metropolitan area, and in that capacity collaborates with the development and integration of molecular services into clinical testing.  She has been active in national laboratory organizations, especially the College of American Pathologists, where she was chair of the Point of Care Testing Resource Committee. In that capacity she guided the introduction and was the senior editor of a web-based POCT toolkit as a resource for laboratory director leadership in POCT.  She has also written and edited multiple educational pieces for the laboratory community as part of the CAP Excel Survey program and in 2012 she was awarded a Life Time Achievement Award by the CAP. She has spoken at AACC and CAP meetings and currently serves on several CLSI document development committees. She is currently chair of an International Federation of Clinical Chemistry POCT task force work group addressing the use of glucose  meters in critical care patients.  Her professional commitment has always been to integrate and translate pathology and laboratory medicine services into effective clinical care. She has dedicated her efforts in POCT as part of that vision to collaborate with all stakeholders and involve laboratory services as part of the continuum of care. She enjoys evaluating technology and integrating it into laboratory services.

Christoph H. Borchers, Ph.D.

Dr. Borchers received his B.S., M.S. and Ph.D. from the University of Konstanz, Germany.  After his post-doctoral training and employment as a staff scientist at NIEHS/NIH/RTP, NC and he was the director of the Duke – UNC Proteomics Facility and held a faculty position at UNC Medical School in Chapel Hill, NC (2001-2006).  Since then Dr. Borchers is Associate Professor at University of Victoria (UVic), Canada and the Director of the UVic – Genome Proteomics Centre.  His research is centred around the improvement, development and application of proteomics technologies with major focus on techniques for quantitative targeted proteomics for clinical diagnostics.

Josip Blonder, MD

Dr. Blonder is Head of the Clinical Proteomics Group, Laboratory of Proteomics & Analytical Technologies (LPAT), Cancer Research Technology Program, Leidos Biomedical Research, Inc. at NCIs, Frederick National Laboratory for Cancer Research (FNL). In 1978, Dr. Blonder received his M.D. at the Rijeka University School of Medicine, Croatia. He completed a residency in emergency medicine in 1984 and assumed the position of head of Emergency Medicine, Medical Center Mostar. In 1989, he completed a fellowship in cardiology at the German Heart Institute in Berlin. In 2000, through Associated Western Universities, Dr. Blonder was awarded a post-doc fellowship in proteomics at the Pacific Northwest National Laboratory (PNNL), Richland, WA (Advisor: Dr. Richard D. Smith). During the stay with Dr. Smith, his research focused on proteome-wide analysis of membrane proteins using high-accuracy and high-resolution mass spectrometry. In 2002 at the PNNL, he developed a shotgun proteomic method for profiling membrane proteins that resulted in an offer to join Leidos Biomedical Research, Inc. (formerly SAIC-Frederick Inc.), LPAT at NCI-Frederick. At the FNL, he extended the application of his method to global quantitative profiling of lipid raft and plasma membrane cell surface proteins resulting in significant discoveries subsequently confirmed in follow-up investigations using orthogonal molecular biology techniques [i.e., PLoS One. 2012;7(12):e51356; J Immunol. 2013 Jul 15;191(2):892-901.]. In 2006, Dr. Blonder was appointed as the head of Clinical Proteomics, extending his research to technology development that would allow in vivo molecular profiling of clinical tissue specimens and body fluids to facilitate a better understanding of cancer biology and cancer biomarker development. His group was the first to optimize the immunodepletion of tissue homogenates in the context of tissue directed proteomics for cancer biomarker discovery. This effort resulted in the publication [i.e., Anal Chem. 2010; 82(5):1584-8.] of a method that relies on concomitant analysis of tissue and blood specimens to unambiguously detect genuine tumor proteins in the blood of a patient diagnosed with non-metastatic cancer for biomarker discovery. Dr. Blonder brings a unique combination of his expertise in medicine, clinical proteomics, and bioinformatics to cancer research where he promotes the use of qualitative/quantitative shotgun proteomics and systems biology to better understand cancer biology. He leads active translational research focused on developing and applying advanced proteomics to directly profile cell surface proteins, solid tumors and body fluids in the context of molecular discovery/phenotyping using systems biology and pathway analysis. He is a lecturer at the Foundation for Advanced Education in the Sciences at NIH where he teaches a course on Clinical Proteomics and Biomarker Discovery. Since 2002, Dr. Blonder has authored over 50 scientific publications in areas of advanced mass spectrometry and clinical proteomics. He is an associate editor of BMC Cancer and a member of the American Association for Cancer Research and the American Society for Mass Spectrometry.

Peter Blume-Jensen, MD, PhD

Dr. Peter Blume-Jensen has extensive expertise in basic and translational cancer research, oncogenic signaling, and targeted oncology therapeutics drug discovery prior to joining Metamark as CSO in 2010.  From 2001 to 2008 Peter was department head at first Serono, US and later at Merck Research Laboratories, Merck & Co, Inc. where he established novel, integrated oncology drug discovery departments and programs linking therapeutics to patient responder populations. Since 2008 he was Exec. Dir. and Vice President for External Scientific Affairs at Daiichi Sankyo Inc., served as the global 'Therapeutic Area Advisor' for Oncology, and was co-responsible for formulating a global oncology R&D strategy. He co-led the scientific M&A and due diligence resulting in the acquisition of Plexxikon (US$935M).  In 2010 he joined Metamark as CSO and 2nd employee.  Since June 2014, Peter has joined Xtuit Pharmaceuticals, a targeted therapeutics start-up, as CSO, and first employee.  Peter continues to serve as Chief Scientific Advisor and on the SAM for Metamark and also has joined the SAB of Veritas Gene, Inc, a NGS company.

Dr. Blume-Jensen has authored highly-cited original articles, reviews, and book chapters in Personalized Molecular Oncology. His review 'Oncogenic Kinase Signaling' in Nature is a citation classic in 'Clinical Medicine', and his work on genetically engineered cancer and male infertility mouse models has been widely portrayed on CNN and other news channels. His approaches for efficacy-predictive biomarkers have appeared on Nature Biotechnology's 'Hot patents' watch-list and in numerous Editorial highlights for Personalized Oncology. Dr. Blume-Jensen obtained his M.D. from Copenhagen, Denmark, his Ph.D. from Dr. Carl-Henrik Heldin's laboratory at the Ludwig Institute for Cancer Research, Uppsala, Sweden, and conducted his Post-Doctoral studies in Dr. Tony Hunter's laboratory at the Salk Institute, La Jolla, CA.

Antonio Baines, Phd

Dr. Antonio T. Baines is an Associate Professor in the Department of Biology at North Carolina Central University (NCCU) and an adjunct professor in the Department of Pharmacology in the School of Medicine at the University of North Carolina (UNC) Chapel Hill. He earned a bachelors degree in biology from Norfolk State University and a doctorate in pharmacology and toxicology from the University of Arizona. Afterwards, Dr. Baines accepted a postdoctoral fellowship at UNC in pharmacology and radiation oncology under Drs. Channing Der and Adrienne Cox.  His research focused on understanding the role of the Ras oncogene as a molecular target in pancreatic cancer oncogenesis. In August 2006, Dr. Baines accepted a tenure-track faculty position at NCCU where he currently teaches and conducts research as a cancer biologist. Also, he mentors high school, undergraduate, and graduate students in his laboratory.

  

Pancreatic cancer is the 4th most common cause of cancer deaths in the United States with a high mortality rate and very limited treatment options. The overall focus of Dr. Baines research program is to identify and validate novel molecular targets in pancreatic cancer which can be targeted by potential cancer therapeutics.  Additionally, his lab aims to understand the role of these molecular targets in the development and progression of normal cells transforming into cancer cells of the pancreas. Currently, Dr Baines studies the functional significance of the oncogenic Pim kinase family in pancreatic cancer growth and development. He hypothesizes that inhibition of these enzymes will be an effective approach for antagonizing the aberrant growth of pancreatic carcinoma. In addition to working with colleagues in academia, he collaborates with various pharmaceutical companies that are developing Pim inhibitors. Results from his studies will allow for critical validation of these kinases as novel therapeutic targets for pancreatic cancer treatment. Dr. Baines research has been funded by NIH and other grant sources. He has presented his research at various national scientific meetings such as the Society of Toxicology and the American Association for Cancer Research. In addition, Dr. Baines has given invited research seminars at universities such as Duke University, UNC-Chapel Hill, North Carolina Agricultural and Technical (A&T) State University, Indiana University, North Carolina State University, University of Missouri-Kansas City and Massachusetts Institute of Technology (MIT).

Vincent Mauro, Ph.D.

Dr. Mauro is an Associate Professor in the Department of Neurobiology at the Scripps Research Institute in La Jolla, California. He is also a co-founder and lead scientist of Promosome, a biotechnology company focused on bioproduction enablement and DNA vaccines. In addition, Dr. Mauro is a Senior Fellow in Experimental Neurobiology at the Neurosciences Institute in San Diego, California.

Prior to moving to The Scripps Research Institute, Dr. Mauro received his Ph.D. at McGill University in Montreal, Quebec, and continued his studies as a postdoctoral fellow at The Rockefeller University in New York City. 

Dr. Mauro studies both fundamental and applied aspects of translational control mechanisms. His basic research is focused on understanding how eukaryotic mRNAs recruit ribosomes, how ribosomes subsequently locate initiation codons, and how ribosomes regulate the translation of specific subsets of mRNAs. Dr. Mauro's applied studies build on his basic research. These applied studies have led to the identification of Translational Enhancer Elements (TEEs) and the generation of synthetic translational enhancers.

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