PRECISION HEALTH MEETING
David Altshuler is Executive Vice-President, Global Research and Chief Scientific Officer at Vertex Pharmaceuticals. Dr. Altshuler leads Vertex’s research efforts aimed at discovering new medicines for the treatment of CF and other serious diseases, overseeing the company’s three research sites in the United States and Europe. David was previously one of four founding members, Deputy Director and Chief Academic Officer at the Broad Institute of Harvard and MIT, a professor at Harvard and MIT, and a physician at Massachusetts General Hospital. He was a leader of the SNP Consortium, HapMap and 1,000 Genome Projects, and with discovered over 100 gene variants associated with type 2 diabetes and other common diseases. A member of the National Academy of Medicine and the American Academy of Arts and Sciences, David was named a Champion of Change by the White House for his leadership in creating and leading the Global Alliance for Genomic and Health.
Carlos D. Bustamante
Dr. Carlos D. Bustamante is an internationally recognized leader in the application of data science and genomics technology to problems in medicine, agriculture, and biology. He received his Ph.D. in Biology and MS in Statistics from Harvard University (2001), was on the faculty at Cornell University (2002-9), and was named a MacArthur Fellow in 2010. He is currently Professor of Biomedical Data Science, Genetics, and (by courtesy) Biology at Stanford University. Dr. Bustamante has a passion for building new academic units, non-profits, and companies to solve pressing scientific challenges. He is Founding Director of the Stanford Center for Computational, Evolutionary, and Human Genomics (CEHG) and Inaugural Chair of the Department of Biomedical Data Science. He is the Owner and President of CDB Consulting, LTD. and also a Director at Eden Roc Biotech, founder of Arc-Bio (formerly IdentifyGenomics and BigData Bio), and an SAB member of Embark Veterinary, the Mars/IBM Food Safety Board, and Digital Ventures.
Marni J. Falk
THE CHILDREN’S HOSPITAL OF PHILADELPHIA
Marni J. Falk, M.D., received her B.S. in Biology graduating Summa cum Laude and Phi Beta Kappa, as well as M.D. in the Alpha Omega Alpha Medical Honor Society from a combined 7-year program at the George Washington University School of Medicine. She then completed dual specialty training in a 5-year Pediatrics and Clinical Genetics residency program at Case Western Reserve University. Dr. Falk is Executive Director of the Mitochondrial Medicine Frontier Program at The Children’s Hospital of Philadelphia (CHOP) and Associate Professor in the Division of Human Genetics within the Department of Pediatrics at University of Pennsylvania Perelman School of Medicine. She works to improved clinical care, diagnostic approaches, and genomic resources for mitochondrial disease, including organization of a global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium. Dr. Falk is also PI of an NIH, pharma, and philanthropic funded translational research laboratory group at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction, and directs multiple clinical treatment trials in mitochondrial disease patients. She has authored more than 95 publications in the areas of human genetics and mitochondrial disease. Dr. Falk also directs the CHOP/UPENN Mitochondria Research Affinity Group that has 250 participants. She is Chair of the Scientific and Medical Advisory Board and serves on the Board of Trustees of The United Mitochondrial Disease Foundation (UMDF); founding member of the CHOP Center for Mitochondrial and Epigenomic Medicine (CMEM); CHOP-site PI of the North American Mitochondrial Disease Consortium (NAMDC); member of the Mitochondrial Medicine Society (MMS), Society for Pediatric Research (SPR), Society for Inherited Metabolic Disease (SIMD), American Society of Human Genetics (ASHG), and American College of Medical Genetics and Genomics (ACMGG); and elected member of the University of Pennsylvania John Morgan Society (JMS), Interurban Clinical Club (ICC), and American Society of Clinical Investigators (ASCI).
EUROPEAN BIOINFORMATICS INSTITUTE EMBL-EBI
Paul Flicek is a Senior Scientist of the European Molecular Biology Laboratory and leads the Vertebrate Genomics Team at the European Bioinformatics Institute near Cambridge, England. He is head of the collection of EMBL-EBI resources focused on Genes, Genomes and Variation and in this role provides strategic leadership of the six faculty groups that together provide all of EBI’s genome annotation resources. He is currently head of the Ensembl project and has held leadership roles in data management activities for the 1000 Genomes Project, the International Human Epigenome Consortium (IHEC) and the International Mouse Phenotyping Consortium (IMPC). Paul’s research is focused on comparative regulatory genomics, the evolution of transcriptional regulation and annotation of the non-coding genome. He is also interested in the large-scale infrastructure required for modern bioinformatics including storage and access methods for high throughput sequencing data. He has played a role in a number of major international projects including ENCODE and the mouse, chicken, and various primate genome projects.
Dr. Ahmed Ghouri is the founder and CEO of Interpreta, healthcare’s first real-time clinical and genomic interpretation system. Interpreta is both rules-based and AI-based. He is a board certified anesthesiologist, biomedical engineer, and analytics entrepreneur. Dr. Ghouri previously founded Anvita Health which analyzed more than two billion data points per day (millions of patients per hour) to deliver clinical insights to leading insurers, national labs, PBMs, the largest claims clearinghouse, university hospitals, and the leading search engine. Anvita was acquired by Humana in 2011. Dr. Ghouri is the first author of more than 70 peer reviewed scientific publications and principal author on eight granted US Patents in analytics, medical devices, and software. He was a co-lead investigator leading to the FDA approval of two fundamentally new drugs (the first real-time general anesthetic desflurane, and the first benzodiazepine reversal drug flumazenil), both of which became worldwide market leaders. Dr. Ghouri holds an M.D. from the Washington University School of Medicine in St. Louis, where he also completed a Biomedical Engineering fellowship focused on real-time interpretation of biological waveforms for patient care. Dr. Ghouri is a lecturer at UCSF and UC Berkeley in the Departments of Translational Medicine.
Robert C. Green
HARVARD MEDICAL SCHOOL, BWH, THE BROAD
Robert C. Green, MD, MPH is Professor of Medicine at Harvard Medical School, and directs the Genomes2People Research Program in translational genomics and health outcomes at Brigham and Women’s Hospital and Broad Institute. He sees patients and conducts empirical research on the medical, behavioral and economic outcomes around the implementation of genomic medicine. With NIH funding, Dr. Green led the first trials disclosing common complex disease risk (REVEAL Study) and the first prospective study of direct-to-consumer genetic testing (PGen Study). He currently leads and co-leads the first randomized trials to explore the implementation of medical sequencing in adults (MedSeq Project) and newborns (BabySeq Project). With support from the Air Force, and in collaboration with military medicine colleagues, he is conducting an exome sequencing implementation study in active duty military personnel (MilSeq Project). Scientific contributions include publication of the first randomized trials to assess the impact of common complex genetic risk markers, empirically measuring the outcomes of DTC genetic testing, design of a variant classification pipeline and single page summary for reporting clinical results of whole genome sequencing. Dr. Green was lead author on the original recommendations for managing incidental findings in clinical sequencing from the American College of Medical Genetics and Genomics and led the first published demonstration of aggregate penetrance of genomic variants in an unselected population. He recently published the first randomized trial to assess appropriateness of care and downstream medical costs of whole genome sequencing in primary care.
MASSACHUSETTES GENERAL, HARVARD, THE BROAD
Sekar Kathiresan, a physician scientist and a human geneticist, is the Director of the Center for Genomic Medicine (CGM) at Massachusetts General Hospital (MGH), Ofer and Shelley Nemirovsky MGH Research Scholar, Director of the Cardiovascular Disease Initiative at the Broad institute, and an Associate Professor of Medicine at Harvard Medical School. Dr. Kathiresan leverages human genetics to understand the root causes of heart attack and to improve preventive cardiac care. Among his scientific contributions, Dr. Kathiresan has helped highlight new biological mechanisms underlying heart attack, discovered mutations that protect against heart attack risk, and developed a genetic test for personalized heart attack prevention. Dr. Kathiresan received his B.A. in history and graduated summa cum laude from the University of Pennsylvania in 1992 and received his M.D. from Harvard Medical School in 1997. He then completed his clinical training in internal medicine and cardiology at MGH, where he served as Chief Resident in Internal Medicine from 2002-2003. Dr. Kathiresan pursued research training in cardiovascular genetics through a combined experience at the Framingham Heart Study and the Broad Institute. In 2008, he joined the faculties of the MGH Cardiology Division, Cardiovascular Research Center, and Center for Genomic Medicine.
ICAHN SCHOOL OF MEDICINE, MOUNT SINAI
Eimear Kenny, PhD, is an Assistant Professor of Genetics and Genomic Sciences at the Institute of Personalized Medicine at the Icahn School of Medicine at Mount Sinai. She is a statistical and population geneticist. She leads a multi-disciplinary team focused on solving problems at the interface of computational and biological sciences. Her research is focused on developing genomic technologies and machine learning methods to explore the link between genetics, ancestry and disease. She is Principal Investigator in multiple NIH-funded consortia focused on genomic medicine and health. She is a scientific advisor to many genomic medicine initiatives in non-profit and industry arenas. She has published over 60 papers in leading journals like Science, Nature, Nature Genetics, and her work has been featured by the New York Times, Australian Broadcasting Company and at the Smithsonian Human Genome Exhibit in Washington DC. She has a BA in Biochemistry from Trinity College Dublin, a PhD in computational genomics from Rockefeller University, and did her postdoctoral training in population genomics at Stanford University.
Stephen F. Kingsmore
RADY CHILDREN’S INSTITUTE FOR GENOMIC MEDICINE
Stephen F. Kingsmore, MD, DSc is President/CEO of Rady Children’s Institute for Genomic Medicine where he leads a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically-ill newborns. Among his achievements, Dr. Kingsmore holds the Guinness World Record® for achieving the fastest molecular diagnosis using whole genome sequencing in just 26 hours, as published in the journal Genome Medicine. Before being selected to lead RCIGM, 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. Dr. Kingsmore received MB ChB BAO BSc 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 in rheumatology at Duke University Medical Center.
BAYLOR COLLEGE OF MEDICINE
Dr. Lee is the Robert and Janice McNair Endowed Chair, Professor, and Chairman of the Department of Molecular and Human Genetics, Director of the Center for Skeletal Medicine and Biology at Baylor College of Medicine, and co-Director of the Texas Medical Center Bone Disease Program of Texas. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. Dr. Lee identified the first genetic causes of human skeletal dysplasias and their implications for cancers of the skeleton. In the area of metabolic disease, he has studied nitric oxide dysregulation and developed new treatments for maple syrup urine disease and urea cycle disorders. Dr. Lee has been recognized by election to the National Academy of Medicine, Fellow of the American Association for the Advancement of Science (AAAS), the Association of American Physicians (AAP), the American Society for Clinical Investigation (ASCI), and the Society of Pediatric Research (SPR). He has also been awarded the American Society of Human Genetics Curt Stern Award for Outstanding Scientific Achievement, the Texas Academy of Medicine, Engineering, Science and Technology (TAMEST) Peter and Edith O’Donnell Award in Medicine, the SPR E. Meade Johnson Award for Pediatrics Research, the Michael E. DeBakey Excellence in Research Award, the American Philosophical Society’s (APS) Judson Darland Prize for Patient-Oriented Clinical Investigation, and Best Doctors in America. Dr. Lee was previously an Investigator of the Howard Hughes Medical Institute prior to his appointment as Chair of the Department of Molecular and Human Genetics in 2014. The Department is the leading genetics program integrating basic, translational, clinical, and diagnostic laboratory activities. It is composed of over 180 primary faculty members encompassing research, clinical, laboratory diagnostic, and genetic counseling missions. It ranks #1 in total NIH funding and number of NIH grants.
CANCER RESEARCH UK CAMBRIDGE INSTITUTE
Serena is a Group Leader at the Wellcome Trust Sanger Institute and explores patterns of mutations (or signatures) that arise in human cells to understand how DNA damage and DNA repair processes contribute towards aging and cancer. She is also an Honorary Consultant in Clinical Genetics at Cambridge University Hospitals NHS Foundation Trust. Serena hunts for mutation signatures in large cancer datasets using computational approaches. She explores these signatures biologically through cell-based model systems. Serena runs a clinical project, Insignia (www.mutationsignatures.org), recruiting patients with DNA repair/replication defects, aging syndromes and neurodegeneration, and people who have been exposed to environmental/occupational mutagens, to gain biological insights into mutational phenomena in these patients.
THE JACKSON LABORATORY
Julia Oh received her B.A. from Harvard University and her Ph.D. in genetics from Stanford University. As a graduate student, she developed technologies for high-throughput gene annotation and drug-target discovery in pathogenic fungi. As a postdoctoral fellow at the National Institutes of Health, she studied the human skin microbiome, focusing on microbiome-host interactions and how changes in the microbiome can result in skin disease. In 2015, she joined The Jackson Laboratory as an assistant professor. The goal of her laboratory is to combine high-resolution computational reconstructions of the microbiome with synthetic biology to devise innovative approaches to create novel therapeutic interventions and investigate the underlying ecology of skin microbial communities.
WELLCOME SANGER INSTITUTE
My current research interests centre around the evolution of bacterial pathogens; their origin, transmission and adaptation to selective pressure. I primarily use genomic approaches to address these, and over the last few years my group has used large-scale population genomics to identify the global origin and routes of spread of many human and animal pathogens. We have addressed adaption to the host, to antibiotics and to vaccine pressure, most recently developing new bacterial genome-wide association approaches to identify genetic determinants responsible for this adaptation. Our work has clear translational benefits, and we have been working with local hospitals, national and international agencies, as well as the commercial sector, to enable these, while maintaining our own focus on more basic research. I was elected a Fellow of the Academy of Medical Sciences in 2009, the American Academy of Microbiology in 2012, and the Royal Society in 2014.
Andrew Plump, M.D., Ph.D., is the Chief Medical and Scientific Officer (CMSO) for Takeda and is and a member of the company’s Board of Directors. In his position, he leads Takeda’s global R&D organization. Andy provides strategic direction and oversight for all Takeda research and development activities globally.
Andy brings an unwavering focus on patients and a deep commitment to innovation and positive change in the healthcare industry. To continue and accelerate Takeda’s R&D successes, he leads an organization that focuses on people and partnerships, modality diversification, translational medicine and genomics. Prior to assuming his current role, Andy served as Senior Vice President, Research & Translational Medicine, Deputy to the President of R&D at Sanofi where he was responsible for global research and translational medicine across all therapeutic areas. Before his global leadership role at Sanofi, Andy spent more than 10 years at Merck, where he began his industry career in one of the industry’s premier Clinical Pharmacology groups. He ultimately assumed the position Vice President, Worldwide Cardiovascular (CV) Research Head. Andy received his medical degree from the University of California, San Francisco (UCSF), his doctorate in cardiovascular genetics with Dr. Jan Breslow from the Rockefeller University, and his bachelor’s degree from the Massachusetts Institute of Technology. He completed a residency in Internal Medicine and a fellowship in Medical Genetics at UCSF. Following his clinical training, Andy continued his scientific training in neuroscience as a Howard Hughes and Stanley J. Sarnoff postdoctoral fellow, with Dr. Marc Tessier-Lavigne, concurrently assuming faculty responsibilities as an Adjunct Clinical Instructor in the Department of Medical Genetics.
UNIVERSITY OF CALIFORNIA SAN FRANCISCO
Dr. Puck earned her undergraduate and medical degrees at Harvard University and Harvard Medical School, after which she completed clinical and research training in pediatrics, infectious diseases and immunology at Washington University in St. Louis, Missouri, and Baylor College of Medicine in Houston, Texas. After serving on the faculties of the University of Pennsylvania in Philadelphia and the National Human Genome Research Institute, NIH, in Bethesda, Maryland, she joined UCSF in 2006 as Professor of Pediatrics. In addition to caring for patients as an immunologist and teaching biomedical trainees at all levels, Dr. Puck has a basic and translational research program that focuses on human immune disorders as well as mouse models of lymphocyte development. Dr. Puck has used genetic and genomic technology as well as cellular immunology to study the basis of impaired lymphocyte development as well as immune dysregulation. She has published over 185 peer reviewed research papers in addition to over 100 chapters and reviews; she is co-editor of Primary Immunodeficiencies: A Molecular and Genetic Approach, published in its 3rd edition in 2014.
Dr. Relling earned her undergraduate B.S. degree from the University of Arizona College of Pharmacy and her doctoral degree from the University of Utah College of Pharmacy. She completed post-doctoral fellowships with Dr. William Evans at St. Jude and with Dr. Urs Meyer at University of Basel. She joined St. Jude as a faculty member in 1988, and in 2003 was named chair of the Department of Pharmaceutical Sciences. She is also a professor at the University of Tennessee in the Colleges of Medicine and Pharmacy.
Her primary interests are in treatment and pharmacogenetics of childhood leukemia and clinical implementation of pharmacogenetic testing. Dr. Relling is part of NIH’s Pharmacogenomics Research Network and co-founder of CPIC, the Clinical Pharmacogenetics Implementation Consortium. She has published over 350 original scientific manuscripts. She was elected to the Institute of Medicine in 2009.
MASSACHUSETTES GENERAL, HARVARD, THE BROAD INSTITUTE
Dr. Jordan Smoller is the MGH Trustees Endowed Chair in Psychiatric Neuroscience, Professor of Psychiatry at Harvard Medical School and Professor in the Department of Epidemiology at the Harvard School of Public Health in Boston. He is Associate Chief for Research in the Massachusetts General Hospital (MGH) Department of Psychiatry and Director of both the Psychiatric and Neurodevelopmental Genetics Unit and the Precision Medicine Research Unit in the MGH Center for Genomic Medicine. Dr. Smoller is a Tepper Family MGH Research Scholar and also serves as Director of the Omics Unit of the MGH Division of Clinical Research and co-Director of the Partners HealthCare Biobank at MGH. He is an Associate Member of the Broad Institute and a Senior Scientist at the Broad’s Stanley Center for Psychiatric Research. He is also Vice President of the International Society of Psychiatric Genetics. The focus of Dr. Smoller’s research interests has been 1) understanding the genetic and environmental determinants of psychiatric disorders across the lifespan; 2) integrating genomics and neuroscience to unravel how genes affect brain structure and function; and 3) using “big data”, including electronic health records and genomics, to advance precision medicine. He co-chairs the Cross-Disorder Workgroup of the international Psychiatric Genomics Consortium which has been examining how genetic influences transcend diagnostic boundaries. He is a PI in the Electronic Medical Records and Genomics (eMERGE) network and lead PI of the New England Precision Medicine Consortium as part of the NIH Precision Medicine Initiative’s All of Us Research Program. He is an author of more than 300 scientific publications and is also the author of The Other Side of Normal (HarperCollins/William Morrow, 2012).
Ronald J. Wapner
COLUMBIA UNIVERSITY MEDICAL CENTER
Currently, Dr. Wapner is the Vice Chair of Research in Obstetrics and Gynecology for Columbia University Medical Center and Director of Reproductive Genetics. Prior to Columbia University, Dr. Wapner was a Professor of Obstetrics and Gynecology at Drexel University College of Medicine and taught at Thomas Jefferson University for 22 years where he also served as the Director of Maternal Fetal Medicine. Dr. Wapner is an internationally known physician and researcher specializing in reproductive genetics. He pioneered the development of chorionic villus sampling (CVS) and multi-fetal reduction. He has authored or co-authored over 450 publications and he has been an active investigator in the area of Maternal-Fetal Medicine. Dr. Wapner is either a principal or co-investigator for a number of NICHD sponsored multi-center studies. He currently serves as the center PI for the National Standards for Fetal Growth study as well as the PI for the Environmental influences on Child Health Outcomes (ECHO) program. Recently, Dr. Wapner led a multicenter study evaluating the accuracy, efficacy, and clinical advantages of prenatal diagnosis using microarray analysis. The Society for Maternal-Fetal Medicine has honored Dr. Wapner with both a Lifetime Achievement Award (2015) and The Dru Carlson Memorial Award for Best Research in Ultrasound and Genetics (2012 & 2017). He has had a significant role in the development of multidisciplinary research studies and clinical research centers throughout his career.
Marc S. Williams
GEISINGER GENOMIC MEDICINE INSTITUTE
Marc S. Williams, MD, FAAP, FACMG, FACMI is a clinical geneticist and informaticist. As of January 2012, he has been the director of the Geisinger Genomic Medicine Institute in Danville, Pennsylvania. He is the co-PI of the Geisinger Electronic Medical Records in Genomics (eMERGE) project and is the medical director of the whole genome sequencing clinical research project. He is site PI and leads the EHR integration workgroup of the NHGRI funded ClinGen project. He represents Geisinger on the NHGRI Genomic Medicine working group. He has participated in the Personalized Medicine Workgroup of the Department of Health and Human Services’ American Health Information Community Task Force, chaired the CDC’s EGAPP Stakeholder’s Group and was a member of the Secretary’s Advisory Committee for Genetics, Health and Society. He is a member of the EGAPP working group. He is a past member of the ACMG Board of Directors, and served as Vice-President for Clinical Genetics. He is past chair of the ACMG Committee on the Economics of Genetic Services and founded the ACMG Quality Improvement Special Interest Group. He is a member of the Scientific Advisory Board of the Clinical Pharmacogenetic Implementation Consortium (CPIC) and a member of the CPIC informatics committee and has participated in guideline creation and review for that group. He recently joined the Scientific Advisory Board of the NIH Undiagnosed Diseases Project. He is boarded in clinical informatics and is a member of the AMIA genomics and translational bioinformatics workgroup and was Geisinger’s representative to the Clinical Decision Support Consortium. He was elected a fellow of the American College of Medical Informatics in 2016. He has authored over 140 articles on a variety of topics including the economic evaluation and value of genetic services, implementation of genomic medicine and the use of informatics to facilitate genomic medicine.