Fowzan Alkuraya, M.D., is a Professor of Human Genetics at Alfaisal University and a Senior Consultant and Principal Clinical Scientist at King Faisal Specialist Hospital and Research Center. He graduated with first class honor and was the valedictorian of his class at the College of Medicine, King Saud University, Riyadh, Saudi Arabia. He did a residency in pediatrics at Georgetown University Hospital, followed by a fellowship in clinical genetics and another in molecular genetics at Harvard Medical School. He also did a postdoctoral research fellowship in the area of developmental genetics in the lab of Prof. Richard Maas at Harvard Medical School. He returned to Saudi Arabia in late 2007 to establish the Developmental Genetics Lab at KFSHRC, which he still directs. He is an authority in the area of Mendelian genetics with more than 250 published manuscripts that describe his lab’s discovery of more than 150 novel disease genes in humans. He is a frequently invited speaker at local, regional and international conferences, on the editorial board of prominent human genetics journals, and the recipient of numerous prestigious awards including William King Bowes Award in Medical Genetics and King Salman Award for Disability Research.
Jeff Barrett is the Director of Open Targets, a public-private partnership of GSK, Biogen, the European Bioinformatics Institute and the Wellcome Trust Sanger Institute to analyze genome-scale human genetics data to change the earliest stage of making medicines: identifying and validating the right targets for new treatments. His current research focuses on integration of cell-specific functional genomics data with statistically robust common variant genetic associations in inflammatory and immune diseases. He is also a leader of the UK-wide Deciphering Developmental Disorders project to sequence over 10,000 patients with severe genetic disorders. He previously worked in Mark Daly’s lab at the Whitehead Institute, where he developed the widely used Haploview software. He moved to Oxford for a D. Phil in statistical genetics with Lon Cardon & Peter Donnelly, where he was an analyst in the Wellcome Trust Case Control Consortium. He then led early GWAS meta-analyses in inflammatory bowel disease and type 1 diabetes while a postdoc with David Clayton in Cambridge.
Jonathan S. Berg, M.D., Ph.D. is an Assistant Professor in the Department of Genetics at the University of North Carolina at Chapel Hill. Dr. Berg is now a physician and researcher interested in the development and application of genetic tests in patients and their families. The recent revolution in genetic sequencing technology has led to an unprecedented opportunity to investigate the underlying etiology in families with genetic conditions, and yet raises potential pitfalls that must be addressed in order to translate these new technologies into the practice of clinical genomics. Dr. Berg is particularly interested in the range of “incidental” or “secondary” findings that are discovered during the course of genome-scale sequencing, including the pre-test counseling and informed consent process, computational analysis required to determine the likely clinical relevance of variants, best practices for return of these findings to patients, and the impact of genomic findings on patients and their families.
He is co-PI of NIH grants investigating the use of genome-scale sequencing as a diagnostic test in patients with suspected genetic disorders and as a potential screening tool in healthy newborns, and to develop a publicly available database of clinically relevant genes and variants through the “ClinGen” project. He is also an Investigator in the UNC Center for Genomics and Society, which was recently renewed as an NHGRI Center for Excellence in ELSI Research to evaluate the prospect of using genomics to improve the health of adults in the general public.
Diana W. Bianchi, M.D. is the Executive Director of the Mother Infant Research Institute at Tufts Medical Center and the Natalie V. Zucker Professor of Pediatrics, Obstetrics and Gynecology at Tufts University School of Medicine. She is also Vice Chair for Pediatric Research at the Floating Hospital for Children, Boston.
Dr. Bianchi is a magna cum laude graduate of the University of Pennsylvania. She received her M.D. from Stanford University School of Medicine and her postgraduate training in Pediatrics, Medical Genetics and Neonatal-Perinatal Medicine at Boston Children’s Hospital and Harvard Medical School. She is board-certified in all three specialties. Her clinical expertise is in prenatal and neonatal genetics.
Dr. Bianchi’s research focuses on noninvasive prenatal diagnosis using fetal and placental DNA sequencing and using information from fetal gene expression to develop novel fetal therapies for genetic disorders such as Down syndrome. Dr. Bianchi has published over 290 peer-reviewed articles, and is one of four authors of the book Fetology: Diagnosis and Management of the Fetal Patient, which won the Association of American Publishers award for best textbook in clinical medicine in 2000. She is also Editor-in-Chief of the International Society for Prenatal Diagnosis’ (ISPD) official journal, Prenatal Diagnosis.
She has held multiple leadership positions in professional societies, including President of ISPD and the Perinatal Research Society, council membership in the Society for Pediatric Research and the American Pediatric Society, and as a Director in the American Society for Human Genetics. Dr. Bianchi has received multiple awards, including the Duane Alexander Award for leadership and mentorship in perinatal medicine from National Institutes of Health, the Christopher Columbus Spirit of Discovery Award and the Distinguished Faculty Award, both from Tufts University, and the 2015 Neonatal Landmark Award from the American Academy of Pediatrics. In 2013 she was elected to the Institute of Medicine, now the National Academy of Medicine. She is a member of the National Advisory Council of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). In May of 2016 Dr. Bianchi will receive the Maureen Andrew Award from the Society for Pediatric Research. This is the nation’s highest award for mentoring in pediatric research and scholarship.
Patricia A. Deverka, MD, MS, MBE is a principal researcher in the Research and Evaluation group at the American Institutes for Research, a nonprofit organization focused on social sciences research. She has extensive experience with comparative effectiveness research, methods for stakeholder engagement and coverage and reimbursement policy issues surrounding the use of new genomics-based technologies. For example, she has worked with stakeholders to recommend standards for generating and evaluating evidence of the clinical utility of molecular diagnostics in oncology. She is currently collaborating on several NHGRI-funded studies to examine coverage issues related to sequencing, including the development of a registry of private payer coverage policies for next-generation sequencing based tests as well as a Delphi study of barriers to clinical integration for non-invasive prenatal screening. Deverka also leads the public deliberation aim of an NHGRI-funded study to solicit citizen input regarding data sharing practices related to genotype/phenotype databases intended for both research use and clinical care. She has received NCI and PCORI funding to develop methods for engaging patients and other stakeholders in the design and implementation of cancer clinical trials, and has published extensively regarding how engaging stakeholders can lead to greater alignment between the goals of researchers and the information needs of health care decision-makers. Deverka has a medical degree from the University of Pittsburgh and is board certified in general preventive medicine and public health. She also obtained a Master’s degree in bioethics from the University of Pennsylvania and completed a policy fellowship at Duke University’s Institute for Genome Sciences and Policy.
Dr. William A. Gahl, M.D., Ph.D. earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin’s McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH’s Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl’s research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.
Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 350 peer-reviewed papers and trained 36 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served one the board of directors of the ABMG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians.
Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards.
Richard Gibbs, Ph.D. is the Founder and Director of the Human Genome Sequencing Center (HGSC), established at BCM in 1996. The HGSC has a core mission of advancing medical care through research and translation of genomics. The group was one of the five worldwide sites to undertake and complete the Human Genome Project, culminating in contribution of approximately ten percent of the sequence in 2003. The group subsequently collaborated to sequence many key species (Drosophila melanogaster, the Brown Norway rat, rhesus macaque, bovine, Dictyostelium discoideum, sea urchin and honey bee genomes) and to generate the first comprehensive map of human genetic variation (the HapMap project).
Current research within the HGSC is focused upon the genomics of cancer, heart disease and autism. To achieve this the group is sequencing single human genomes at an increasing rate. New molecular technologies are being developed for the mapping and sequencing, for exploring novel chemistries for DNA tagging, and to enable development of instrumentation for DNA manipulation.
Eric D. Green, M.D., Ph.D. is the Director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), a position he has held since late 2009. NHGRI is the largest organization in the world solely dedicated to genomics research. Previously, he served as the NHGRI Scientific Director (2002- 2009), Chief of the NHGRI Genome Technology Branch (1996-2009), and Director of the NIH Intramural Sequencing Center (1997-2009).
Born and raised in St. Louis, Missouri, Dr. Green received his B.S. degree in Bacteriology from the University of Wisconsin-Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. During residency training in clinical pathology (laboratory medicine), he worked in the laboratory of Dr. Maynard Olson, where he launched his career in genomics research. In 1992, he was appointed Assistant Professor of Pathology and Genetics as well as a Co-Investigator in the Human Genome Center at Washington University. In 1994, he joined the newly established Intramural Research Program of the National Center for Human Genome Research, later renamed the National Human Genome Research Institute.
While directing an independent research program for almost two decades, Dr. Green was at the forefront of efforts to map, sequence, and understand eukaryotic genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function, and evolution. His laboratory also identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease, and inherited peripheral neuropathy.
As Director of NHGRI, Dr. Green is responsible for providing overall leadership of the Institute’s research portfolio and other initiatives. In 2011, Dr. Green led NHGRI to the completion of a strategic planning process that yielded a new vision for the future of genomics research, entitled Charting a course for genomic medicine from base pairs to bedside (Nature 470:204-213, 2011). Since that time, he has led the Institute in broadening its research mission; this has included designing and launching a number of major programs to accelerate the application of genomics to medical care. With the rapidly expanding scope of genomics, his leadership efforts have also involved significant coordination with multiple components of the NIH, as well as other agencies and organizations.
Beyond NHGRI-specific programs, Dr. Green has also played an instrumental leadership role in the development of a number of high-profile efforts relevant to genomics, including the Smithsonian-NHGRI exhibition Genome: Unlocking Life’s Code, the NIH Big Data to Knowledge (BD2K) program, the NIH Genomic Data Sharing Policy, and the U.S. Precision Medicine Initiative.
Hakon Hakonarson, M.D., Ph.D. is Director for Applied Genomics and is also an associate professor of pediatrics at The University of Pennsylvania School of Medicine. He leads a $40 million commitment from CHOP to genotype approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature and Science. Dr. Hakonarson has previously held several senior posts within the biopharmaceutical industry, directing a number of genomics and pharmacogenomics projects as Vice President of Clinical Sciences and Development at deCODE genetics, Inc. Dr. Hakonarson has been the principal investigator (PI) on several National Institute of Health-sponsored grants, and is currently co-PI on Neurodevelpmental Genomics: Trajectories of Complex Phenotypes, the largest project ever supported by the National Institute of Mental health. He has published numerous high impact papers on genomic discoveries and their translations in some of the most prestigious scientific medical journals, including Nature, Nature Genetics and The New England Journal of Medicine. Time Magazine listed Dr. Hakonarson’s autism gene discovery project, reported in Nature in 2009, among the top 10 medical breakthroughs of that year.
Imran Haque, Ph.D. says his father gave him sound advice when he was trying to figure out a career path: “Do something that matters.” At Counsyl, Imran does just that as the Director of Research, focusing on development of advanced genomics technologies, external research collaborations, and data sharing for large scale clinical testing. Prior to Counsyl, Dr. Haque completed his Ph.D. in computer science at Stanford University, where he worked with Vijay Pande and Daphne Koller on large-scale machine learning methods for computational drug discovery.
“Genomic medicine is a team sport,” says Howard Jacob, PhD.
As a faculty investigator and the executive vice president for genomic medicine at the HudsonAlpha Institute for Biotechnology,
Jacob is leading a team that is finding ways to change people’s lives.
In his research, Jacob verifies that specific DNA changes cause disease, especially for undiagnosed conditions. And he wants to find a way to pinpoint those genetic conditions fast enough to benefit a patient.
Jacob received his PhD in pharmacology from the University of Iowa in 1989. He completed his postdoctoral work at Harvard, Stanford and MIT. Before joining HudsonAlpha in 2015, Jacob was the founding director of the Human and Molecular Genetics Center and a professor in the departments of physiology and pediatrics at the Medical College of Wisconsin (MCW) in Milwaukee for nearly 20 years.
At MCW, Jacob led a team that was the first in the world to successfully use DNA sequencing to identify and treat an unknown disease in a patient. That experienced saved the patient’s life and changed Jacob’s. “I always believed genomics was going to improve medicine,” he says. “But it went from being a dream to being a passion. I’m frustrated that we’re not helping more people today, when I know we could be changing lives. The good news is that we are going to be changing lives, and changing medicine, through genomics.”
Stephen F. Kingsmore is President and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital, San Diego, which is implementing pediatric genomic/precision medicine at unprecedented scale. Previously he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has been the President and CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, founder of GatorGen, and Assistant Professor at the University of Florida’s School of Medicine. Dr. Kingsmore received MB ChB BAO and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. In March of 2015, Dr. Kingsmore surpassed his previous record in genetic sequencing by reducing the process to 26 hours which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world.
Mia A. Levy, M.D., Ph.D., is the Ingram Assistant Professor of Cancer Research, an Assistant Professor of Biomedical Informatics and Medicine in the School of Medicine and Vanderbilt University. She is also the Director of Cancer Clinical Informatics for the Vanderbilt-Ingram Cancer Center. She is a practicing medical oncologist specializing in the treatment of breast cancer. Her research interests include biomedical informatics methods to support the continuum of cancer care and cancer research. Her current projects include informatics methods for 1) image based cancer treatment response assessment using quantitative imaging, 2) clinical decision support for treatment prioritization of molecular subtypes of cancer, 3) protocol based plan management and 4) learning cancer systems.
She is the informatics lead for the Vanderbilt Personalized Cancer Medicine Initiative (PCMI) working to integrate tumor genetics biomarkers into the electronic health record in computable form and provide decision support for standard of care and clinical trial eligibility based on those predictive biomarkers. As part of this initiative, her team has developed the My Cancer Genome website, a freely available knowledge resource for patients and providers designed to guide actionable decisions regarding treatment options based on tumor genetics. The goal is to help make genome directed cancer care the next standard of care by providing an international resource for patients and providers to help drive treatment decisions.
She is also the informatics lead for the Vanderbilt Oncology Information System (VOIS) program developing clinical information systems for the continuum of cancer care. VOIS projects include adaptation of existing technologies to the cancer clinical environment including bar-code medication administration, data integration and visualization, and the development of new systems for chemotherapy plan management. Through a collaboration with the Vanderbilt Institute for Software Integrated Systems (ISIS), we are developing a model driven computing application for longitudinal management of patient plans including full integration with downstream transaction systems.
Johnathan Marchini, D. Phil. is Professor of Statistical Genomics in the Department of Statistics at the University of Oxford, a Group Leader at the Wellcome Trust Center for Human Genetics, and a Tutorial Fellow at Somerville College, Oxford. Prof Marchini is a statistician who works broadly in the area of Statistics Genomics. He leads a research group interested in developing statistical methods, theory and computational tools that solve problems, and help others make discoveries, in the areas of human disease genetics, population genetics and imaging-genetics. Some current and recent research topics include (1) analysis of next-generation sequencing data, specifically analysis of the Haplotype Reference Consortium (HRC), which is co-led by Prof Marchini, and the 100,000 Genomes Project, (2) analysis methods for the UK Biobank Project, (3) methods for the analysis of multiple phenotypes, (4) multi-omics data integration, (5) imaging genetics, (6) haplotype inference and phasing (7) Bayesian modelling of genotype-phenotype association, (8) methods for detection of population structure. In 2012 Prof Marchini was awarded a Philip Leverhulme Prize awarded to outstanding scholars who have made a substantial and recognised contribution to their particular field of study, recognised at an international level, and where the expectation is that their greatest achievement is yet to come. In 2013 Prof Marchini was awarded an ERC Consolidator Award for his research plans to develop methods for high-dimensional genetic datasets.
Elaine Mardis, Ph.D., graduated Phi Beta Kappa from the University of Oklahoma with a B.S. degree in zoology. She then completed her Ph.D. in Chemistry and Biochemistry in 1989, also at Oklahoma. Following graduation, Dr. Mardis was a senior research scientist for four years at BioRad Laboratories in Hercules, CA.
In 1993, Dr. Mardis joined the faculty at Washington University School of Medicine. Recruited for her expertise in DNA sequencing and automation technology, she served as Director of Technology Development at the (then) Washington University Genome Sequencing Center, helping create methods and automation pipelines for sequencing the Human Genome. She has served as Co-director of the McDonnell Genome Institute since 2002. In 2014, Dr. Mardis was named the Robert E. and Louise F. Dunn Distinguished Professor of Medicine.
Dr. Mardis has research interests in the application of next-generation sequencing to characterize cancer genomes and transcriptomes, and using these data to support therapeutic decision-making. She co-led the teams that first used next-generation sequencing to characterize the whole genome of an AML patient (Nature 2008), first sequenced and compared a primary tumor to its metastasis and xenograft, and first reported whole genome sequencing of samples from a breast cancer clinical trial. Beyond cancer genomics discoveries, Dr. Mardis is leading efforts to facilitate the translation of basic science discoveries about human genetic diseases into the clinical setting, especially focused on the use of next-generation sequencing. Her translational research efforts aim to devise NGS-based diagnostics, decision-support tools and databases, and the use of genomics to design personalized cancer vaccines.
Dr. Mardis was elected to the AACR Board of Directors in 2015. She serves as an associate editor of Molecular Cancer Research, Disease Models and Mechanisms and Annals of Oncology, and acts as a reviewer for Nature, the New England Journal, Cell and Science. She is the Editor-in-Chief of Molecular Case Studies. She serves on the scientific advisory boards of Qiagen Ingenuity, DNA Nexus, and ZS Genetics, and is a member of the Supervisory Board of Qiagen N.V. Dr. Mardis received the 2010 Scripps Translational Research award for her work on cancer genomics, and was named a Distinguished Alumni of the University of Oklahoma College of Arts and Sciences in 2011. Discover Magazine featured her work in cancer genomics as one of their top 100 science stories of 2013. In 2014 and 2015, she was one of the most highly cited researchers in the world, according to Thompson-Reuters. She will receive the Morton K. Schwartz award from the American Association of Clinical Chemistry for Significant Contributions in Cancer Research Diagnostics in 2016.
John Mattison, M.D., is the chief medical information officer and assistant medical director for Kaiser Permanente, the nation’s largest not-for-profit health plan and health care provider, with annual operating revenue of more than $50 billion. Dr. Mattison began his medical career at the University of California San Diego (UCSD) and Scripps Clinic, where he practiced in many clinical settings, including primary care, preventive medicine, emergency services, critical care, hyperbaric medicine, trauma and helicopter medicine. He has dedicated his more recent career to transforming care delivery with information technology, through convergence of data liquidity through HIE, big data analytics, advanced decision support, multi-omics, personalized consumer-directed healthcare, mobile, social, behavioral economics, predictive modeling, health mentor avatars, visualization tools and UX. Dr. Mattison has been actively involved in international health data standards and is the founder of the open source initiative that led to the international XML standards for health record exchange known as the Clinical Document Architecture (CDA) and the Continuity of Care Document (CCD). He also served as the first practicing clinician on the SNOMED international board and was actively engaged with the merger of SNOMED with the NHS “Clinical Terms”, the initial agreement with the NLM and he led the open source donation of Kaiser’s CMT project to both NLM and ITHSDO. He is actively involved in state and federal policy and governance of health information exchange.
Dr. Amy McGuire, J.D., Ph.D. is the Leon Jaworski Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy. She received her BA in psychology from the University of Pennsylvania, summa cum laude, her JD from the University of Houston, summa cum laude, and her PhD, with distinction, from the Institute for Medical Humanities at University of Texas Medical Branch. Her research focuses on ethical and policy issues in genomics and human genetics, with a particular focus on genomic research the clinical integration of emerging technologies. Dr. McGuire is an alumnus of the Greenwall Faculty Scholars Program in Bioethics, and her current research is funded by the NIH-NHGRI and the Cancer Prevention and Research Institute of Texas.
Dr. Howard McLeod is Medical Director of the DeBartolo Family Personalized Medicine Institute, moving to Moffitt Cancer Center in September 2013. He is also a Senior Member of the Division of Population Sciences and Professor at the University of South Florida. Most recently he was the Fred Eshelman Distinguished Professor and Founding Director of the UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill. Dr McLeod held appointments in the UNC Schools of Pharmacy and Medicine, the Carolina Center for Genome Sciences, and the Lineberger Comprehensive Cancer Center. Dr McLeod received a BS Pharmacy from University of Washington and a PharmD from the Philadelphia College of Pharmacy and Science. He completed a clinical research fellowship at St Jude Children’s Research Hospital and had postdoctoral training at the Beatson Cancer Center in Glasgow, Scotland. Dr McLeod is chair of the NHGRI eMERGE network external scientific panel and a recent member of the FDA committee on Clinical Pharmacology and the NIH NHGRI Advisory Council. Since 2002, Dr McLeod has been vice chair for Pharmacogenomics for the NCI clinical trials cooperative group CALGB/ALLIANCE, overseeing the largest oncology pharmacogenomics portfolio in the world. Dr McLeod is also a 1000 talent scholar of China and a Professor at Central South University in Changsha, China. He directs the Pharmacogenetics for Every Nation Initiative, which aims to help developing countries use genetic information to improve National Drug Formulary decisions. Howard has published over 495 peer reviewed papers on pharmacogenomics, applied therapeutics, or clinical pharmacology and continues to work to integrate genetics principles into clinical practice to advance individualized medicine.
Dr. Nickolas Papadopoulos, Ph.D. is an expert in cancer diagnostics and the development of diagnostic tests. He is known as a co‐discoverer of the genetic basis of the predisposition to hereditary nonpolyposis colon cancer (HNPCC), one of the most common hereditary forms of cancer. His discovery that mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) predispose to HNPCC had important ramifications for the understanding of cancers with a very high rate of mutations. These discoveries led to the development of diagnostic tests for the presymptomatic diagnosis of individuals with HNPCC. The recent years focused on cancer genomics. He was part of the interdisciplinary team that was first to sequence all of the protein coding genes and determine genetic alterations and construct expression profiles in multiple tumors of four different common human cancers. A noteworthy discovery he has made in the recent years is the identification of novel, signature mutations in ovarian clear cell carcinomas and pancreatic neuroendocrine tumors. These mutations are in genes that control epigenetic changes in the cell. This work has provided new insights into the pathogenesis of these tumor types as well as new diagnostic strategies. Currently, he is focused on translating the genetic information derived from cancer genome analyses to clinical applications in early detection, diagnosis and monitoring of cancer. He is a co-developer of sensitive methods for the detection of tumor DNA in liquid biopsy. He is also the co-founder of two companies that develop diagnostics for cancer.
Nirali Patel, M.D., has her focus of research interest is somatic mutation testing in cancer. Somatic mutations are indicators of which pathways have been altered in cancer cells. Numerous therapies and clinical trials are selected for use in patients based on these changes.
My primary research role is to provide anatomic and molecular pathology support for the UNCseq (LCCC1108) project, which identifies clinically actionable somatic mutations in cancer patients using massively parallel sequencing. In addition, I oversee the germline genetic analysis of these patients in order to identify hereditary mutations that result in clinically relevant syndromes. Clinically, I oversee the development of somatic mutation testing panels using next generation sequencing in order to allow for more rapid analysis of mutations that are standard of care in patient treatment.
Josh Peterson, M.D., MPH, is an Associate Professor of Biomedical Informatics and Medicine within Vanderbilt University School of Medicine. Dr. Peterson completed his MD degree at Vanderbilt University School of Medicine , an Internal Medicine residency at Duke University Medical Center, a fellowship in General Internal Medicine at the Brigham and Women’s Hospital, and a Masters of Public Health degree at the Harvard School of Public Health. He practices internal medicine at the Vanderbilt Adult Primary Care Clinic.
As a clinician and pharmacogenomics researcher, Dr. Peterson has played a pivotal role in developing and evaluating systematic approaches to implementing Precision Medicine programs. He has led the design and implementation of clinical decision support to tailor prescribing for geriatric patients, the critically ill, and patients with acute and chronic kidney disease. More recently, he has directed program development for Vanderbilt University Medical Center’s large-scale pharmacogenomics quality improvement initiative – PREDICT (Pharmacogenomic Resource for Enhanced Decisions In Care and Treatment). He chairs the Clinical Informatics workgroups for the IGNITE (Implementing Genomics in Practice) network and the Outcomes workgroup of the eMERGE (electronic Medical Records and Genomics) network. Additionally, he serves as the principle investigator for an NIH funded project to simulate the clinical impact and cost-effectiveness of performing genomic panel testing across large populations.
Heidi L. Rehm, Ph.D., FACMG is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine (LMM), the Clinical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women’s Hospital and Harvard Medical School. Both of her clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. The LMM has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The LMM and the Broad CRSP lab offer genomic sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects and the eMERGE program. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics. She is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and clinical annotations of genes and variants. Working closely with the Global Alliance for Genomics and Health she is co-leading the Matchmaker Exchange project to aid in solving rare diseases and co-chairs a subcommittee of the BRCA Challenge to support the international sharing of knowledge on BRCA variation. Dr. Rehm also co-leads a new Center for Mendelian Genomics and conducts research in hearing loss, Usher syndrome, cardiomyopathy, healthcare IT and genomic medicine.
Dr. Shaywitz, Chief Medical Officer, DNAnexus, is chief medical officer at DNAnexus, and holds an adjunct appointment as Visiting Scientist in the Department of Biomedical Informatics at Harvard Medical School. He has a decade of experience in the life science industry, with experience in R&D, strategy, and commercial operations through his work at Merck, the Boston Consulting Group, and Theravance. Dr. Shaywitz received his MD/PhD from Harvard and MIT, and trained in internal medicine and endocrinology at the Massachusetts General Hospital. He is co-author, with Lisa Suennen, of “Tech Tonics: Can Passionate Entrepreneurs Heal Healthcare With Technology?”, co-host of the twice-monthly Tech Tonics podcast with Lisa, and writes regularly about entrepreneurial innovation in medicine for Forbes.
Kenna R. Mills Shaw, Ph.D. graduated Magna Cum Laude from the College of William and Mary with bachelor’s degrees in Spanish and Biology. Before completing her PhD in Cell and Developmental Biology at Harvard University with Joan Brugge, Kenna spent a year in Chile as a Fulbright Scholar investigating the role of scientists in K-12 education. While in Chile, Kenna played a key role in the revision of the national biology curriculum and directed a professional development program for high school teachers on molecular biology. This program has now been extensively used throughout Latin America and is still in use today in Chile. Her interest in science education piqued, Kenna continued to volunteer and perform outreach in K-12 education while in graduate school. As an American Cancer Society-supported post-doctoral fellow at the National Institutes of Health, Kenna also served as a fellow at the National Science Resources Center where she worked on professional and curriculum development for K-8 science education. After her postdoctoral fellowship, Kenna served as Director of Education for the American Society of Human Genetics where she coordinated all educational outreach and training programs for the society. Dr. Shaw served the lead-Principal Investigator of the Geneticist-Educator Network of Alliances (GENA) Project, a project funded by the National Science Foundation and has done work on misconceptions about biology and genetics in students and the public. She previously served as the Executive Editor for a new science education venture at Nature Publishing Group called Nature Education (www.scitable.com), where she lead the development of the content and pedagogical tools for the community. Previously, Kenna served as the Director for the Cancer Genome Atlas (TCGA) program where she managed the team responsible for ‘front-end operations’ of the TCGA program including the collection and processing of tumor samples, development of disease-specific working groups, clinical data collection and auditing, sample processing and distribution and all strategic decisions related to program direction and policy development. Under her leadership the program grew more than 10 fold and promises to complete its work on time and under budget. Kenna has joined the MD Anderson Cancer Center as the Executive Director of the Institute of Personalized Cancer Therapy. In this role she is working to improve how molecular testing is informing patient care and outcomes in hopes of driving forward innovative trials where MD Anderson has unique capacity.
Alan R. Shuldiner, M.D. is Vice President and Co-Head of the Regeneron Genetics Center. He received his undergraduate degree in chemistry from Lafayette College (Easton, PA; 1979), and his medical degree from Harvard Medical School (Boston, MA; 1984). He completed residency training in internal medicine at Columbia Presbyterian Hospital in New York, and his postdoctoral fellowship in Endocrinology and Metabolism in the Diabetes Branch at the National Institutes of Health in Bethesda. From 1991 to 1996, Dr. Shuldiner served on the faculty at Johns Hopkins University School of Medicine and from 1997-2014 at the University of Maryland School of Medicine as the John Whitehurst Endowed Professor of Medicine, Associate Dean and founding director of the Program for Personalized and Genomic Medicine, and Head of the Division of Endocrinology, Diabetes and Nutrition. Dr. Shuldiner’s major research interests lie in the molecular biology and genetics age-related diseases including of diabetes, obesity, osteoporosis, and cardiovascular disease. He also works on the pharmaco- and nutri-genomics of these disorders. He is best known for his research in the Old Order Amish, a homogeneous founder population ideal for genetic studies. His multidisciplinary research team made several important genetic discoveries that have informed human biology and therapeutics including the first human null mutations in genes encoding apolipoprotein C-III (APOC3) and hormone sensitive lipase (LIPE), as well as discovery that common loss of function variants in CYP2C19 are major determinants of response to clopidogrel (Plavix) in coronary heart disease patients. At the Regeneron Genetics Center, Dr. Shuldiner continues to work in discovery and translational genomics, applying high-throughput sequencing and analytical approaches to identify novel drug targets and accelerate the path to new effective and safe therapies for patients with diseases of unmet clinical need. Dr. Shuldiner has authored more than 350 original articles in leading journals and 70 reviews and book chapters.
AmirAli Talasaz, Ph.D. serves as the President and Chief Technology Officer of Guardant Health Inc. Mr. Talasaz is a serial entrepreneur in the sample preparation and clinical research fields. Prior to co-founding Guardant, he served as Senior Director of Diagnostics Research at Illumina and led the research efforts for emerging clinical applications of next-generation genomic analysis. During that time, he developed different sample preparation technologies suitable for clinical applications. Before Illumina, he founded Auriphex Biosciences, which focused on purification and genetic analysis of circulating tumor cells for cancer management, before being acquired by Illumina. Prior to his industrial career, he led the Technology Development group at Stanford Genome Technology Center. Mr. Talasaz received his Ph.D. in Electrical Engineering and MSc in Management Science from Stanford University.
Dr. Talkowski directs a genomics research program that explores the consequences of genetic variation on human disease, particularly human developmental and neuropsychiatric disorders, as well as the application of innovations in genomics technology to clinical diagnostics. Dr. Talkowski has performed seminal studies to introduce high-resolution genomics techniques to delineate the types of genetic variation that were classically defined using cytogenetic methods, which has discovered new classes of complex genomic variation in the human genome that are remarkably common yet otherwise cryptic to conventional technologies. His laboratory has also discovered and characterized a significant number of novel genes contributing to autism and human neurodevelopmental disorders, and has recently applied whole-genome sequencing technologies and large-scale genomics datasets to prenatal detection and interpretation of structural variation in the genome.
Christine M. Walko, PharmD, BCOP, is a Clinical Pharmacogenomic Scientist at Moffitt Cancer Center. She is the co-chair of the Clinical Genomic Action Committee, and her research program focuses on using both pharmacogenomics and pharmacokinetics to individualize patient cancer therapy.
Ramnik Xaier, M.D., Ph.D. is Chief of Gastroenterology at Massachusetts General Hospital (MGH), Kurt Isselbacher Professor of Medicine at Harvard Medical School, and an Institute Member at the Broad Institute of Harvard and MIT.
In addition to his roles as director of the Center for the Study of Inflammatory Bowel Disease at MGH and co-director of Center for Microbiome Informatics and Therapeutics at MIT, he is also a founding member of the Center for Computational and Integrative Biology.
As a clinical gastroenterologist and molecular biologist, he studies the specific molecular mechanisms involved in innate and adaptive immunity as well as the genetic variants associated with Crohn’s disease and ulcerative colitis. Dr. Xavier is seeking a better understanding of Crohn’s disease based on the soaring number of genes now known to be implicated in this immune-related disorder. Recent findings in Dr. Xavier’s laboratory have helped elucidate the role of autophagy, a cellular process that digests and recycles proteins, in the development of Crohn’s disease. His team has also discovered novel immune regulatory genes involved in innate and adaptive immunity, identified innate immune pathways that sense microbial invaders, and pinpointed metabolic stress programs in immunity. In addition, Dr. Xavier and his team are pursuing new methods to understand the relationship between microbes living in the human gut and autoimmunity and to connect these patterns back to human genetics.