PRECISION HEALTH MEETING
C. Frank Bennett
CHIEF SCIENTIFIC OFFICER
Dr. Bennett is the chief scientific officer at Ionis Pharmaceuticals and one of the founding members of the company. He is responsible for continuing to advance antisense technology and expanding Ionis drug discovery platform. Dr. Bennett is also the franchise leader for neurological programs at Ionis. He has been involved in the development of antisense oligonucleotides as therapeutic agents, including research on the application of oligonucleotides for inflammatory, neurodegenerative diseases and cancer, oligonucleotide delivery, pharmacokinetics and medicinal chemistry.
Dr. Bennet is a co-recipient of the 2019 Breakthrough Prize in Life Sciences for his contributions to the discovery and development of SPINRAZA® (nusinersen) and the 2018 Hereditary Disease Foundation’s (HDF) Leslie Gehry Brenner Prize for Innovation in Science for his leadership and continued commitment to developing antisense therapies for Huntington’s disease (HD).
Dr. Bennett has published more than 230 papers in the field of antisense research and development, and he is an inventor on more than 175 issued patents.
Prior to joining Ionis, Dr. Bennett was associate senior investigator in the Department of Molecular Pharmacology at SmithKline and French Laboratories (currently, GlaxoSmithKline).
He received his Ph.D. in Pharmacology from Baylor College of Medicine, Houston, Texas and his B.S. degree in Pharmacy from the University of New Mexico, Albuquerque, New Mexico. He performed his postdoctoral research in the Department of Molecular Pharmacology at SmithKline and French Laboratories.
Dr. Bennett serves on the Advisory Board for the Hereditary Disease Foundation.
Robert M. Califf
HEAD OF CLINICAL POLICY AND STRATEGY FOR VERILY AND GOOGLE HEALTH ADJUNCT PROFESSOR, DUKE UNIVERSITY AND STANFORD UNIVERSITY
Robert M. Califf, MD, MACC, is the Head of Clinical Policy and Strategy for Verily and Google Health for Verily and Google Health. Prior to this Dr. Califf was the vice chancellor for health data science for the Duke University School of Medicine; director of Duke Forge, Duke’s center for health data science; and the Donald F. Fortin, MD, Professor of Cardiology. He served as Deputy Commissioner for Medical Products and Tobacco in the U.S. Food and Drug Administration (FDA) from 2015-2016, and as Commissioner of Food and Drugs from 2016-2017. A nationally and internationally recognized leader in cardiovascular medicine, health outcomes research, healthcare quality, and clinical research, Dr. Califf is a graduate of Duke University School of Medicine. Dr. Califf was the founding director of the Duke Clinical Research Institute and is one of the most frequently cited authors in biomedical science.
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Associate Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of obesity, breast cancer, pulmonary hypertension, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 250 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and a career development award from Doris Duke. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genes and the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.
PROFESSOR OF GENETICS, UNIVERSITY OF GENEVA DIRECTOR, HEALTH 2030 GENOME CENTER PRESIDENT, NATIONAL COUNCIL FOR RESEARCH, TECHNOLOGY AND INNOVATION (GREECE)
Emmanouil (Manolis) Dermitzakis is Professor of Genetics in the Department of Genetic Medicine and Development, University of Geneva Medical School, Director of the Health2030 Genome Center and President of the National Council for Research, Technology and Innovation in Greece. He is member of the executive boards of the Institute of Genetics and Genomics in Geneva (iGE3) and the Swiss Personalized Health Network, and also a member of the Swiss Institute of Bioinformatics. He obtained his B.Sc. (1995) and M.Sc. (1997) from the University of Crete (Greece) and his PhD in 2001 from the Pennsylvania State University in the USA. His post-doctoral work was at the University of Geneva Medical School. He previously was a Senior Investigator at the Wellcome Sanger Institute in Cambridge. He was elected EMBO member in 2014, recipient of the 2017 Bodossakis science award and has been named Highly Cited Researcher by ISI every year from 2014 onwards. He also served as president of the World Hellenic Biomedical Association (2014-2015). His research focuses on the genetic causes of human disease. He has had leading roles in the ENCODE, Mouse Genome Sequencing, the International HapMap, the 1000 genomes and GTEx projects. He has served in the Board of scientific journals such as Science, eLIFE, PLoS Genetics and he is currently the Chief Editor of Frontiers in Genetics.
CHIEF MEDICAL OFFICER
Dr. Phil Febbo was appointed as Chief Medical Officer at Illumina in March 2018. In this role, he is responsible for developing and executing the Company’s medical strategy to drive genomic testing into healthcare practice. Dr. Febbo has a successful track record of translational research, clinical excellence and for embedding molecular insights into clinical care.
Immediately before joining Illumina, Dr. Febbo served as CMO of Genomic Health. Prior to his five years at Genomic Health, Dr. Febbo was a Professor of Medicine and Urology at the University of California, San Francisco (UCSF), where his laboratory focused on using genomics to understand the biology and clinical behavior of prostate cancer, and his clinical practice focused on genitourinary oncology.
Dr. Febbo holds a Bachelor of Arts degree in Biology from Dartmouth College and an M.D. from UCSF. He completed his internal medicine residency at the Brigham and Women’s Hospital and his fellowship in oncology at the Dana-Farber Cancer Institute. While an Attending Physician in the Genitourinary Oncology Center at Dana-Farber and Instructor at Harvard Medical School, he spent 5 years as a post-doctoral fellow in Dr. Todd Golub’s laboratory at Dana-Farber and the Whitehead Institute Center for Genomic Research of MIT (now the Broad Institute). In 2004, Dr. Febbo joined the faculty at Duke University Medical Center’s Institute of Genome Sciences and Policy for 6 years until his return to UCSF. Dr. Febbo served as a primary investigator for the Translational Research Program of The Alliance, an NCI-supported cooperative group focused on incorporating biomarkers into large clinical trials.
Geoffrey S. Ginsburg
DUKE UNIVERSITY SCHOOL OF MEDICINE
Dr. Ginsburg is the founding director for the Center for Applied Genomics & Precision Medicine at the Duke University Medical Center and for MEDx, a partnership between the Schools of Medicine and Engineering to spark and translate innovation. His research addresses the challenges for translating genomic information into medical practice and the integration of precision medicine into healthcare.
He is a member of the Advisory Council to the Director of NIH and is co-chair of the National Academies Roundtable on Genomic and Precision Health and is co-chair of the Global Genomic Medicine Collaborative. He has recently served as a member of the Board of External Experts for the NHLBI, the advisory council for the National Center for Accelerating Translational Science, and the World Economics Forum’s Global Agenda Council on the Future of the Health Sector.
Joseph G. Gleeson
RADY PROFESSOR LABORATORY FOR PEDIATRIC BRAIN DISEASE RADY GENOMICS INSTITUTE UNIVERSITY OF CALIFORNIA SAN DIEGO
Dr. Gleeson received his M.D. from the University of Chicago, residency in pediatrics and neurology at Harvard Medical School and Children’s Hospital Boston and then postdoctoral research fellowship in neurobiology and genetics at Harvard Medical School. He has appointments at the University of California San Diego, Rady Children’s Hospital San Diego, and The Rockefeller University. He is an Investigator with the Howard Hughes Medical Institute, an Investigator with the Simons Foundation for Autism Research, and a member of the US National Academy of Science Institute of Medicine.
His research is focused on genetic brain diseases, with the goal of discovering genetic causes of disease, uncovering mechanisms and developing new treatments. The lab has leveraged the largest cohort of families with autism due to recessive neurodevelopmental and neurodegenerative disease using next-generation sequencing. With over 6000 patients sequenced to date, the lab has uncovered causes for over 100 genetic diseases along a spectrum of epilepsy, autism, intellectual disability, neurodegenerative conditions. Mutations are modeled using biochemistry, cell culture, IPSCs, as well as mouse and zebrafish models.
The work has uncovered several pediatric brain diseases that were previously considered untreatable to have obvious points of treatment. Gleeson identified the Doublecortin gene mutated in lissencephaly. He described mutations in the BCKDK gene in patients with autism and epilepsy that predict that should respond to simple nutritional supplementation of branched chain amino acids, and recent trials have been successful. They described mutations in the MTOR, AKT3, PIK3CA genes in patients with hemimegalencephaly that predict they should respond to medications inhibiting the mTOR pathway. He described mutations in the AMPD2 gene in patients with a form of neurodegeneration that predict that they should respond to simple nutritional supplementation.
Eric D. Green
NATIONAL HUMAN GENOME RESEARCH INSTITUTE NATIONAL INSTITUTES OF HEALTH BETHESDA, MARYLAND
Dr. Eric Green is the Director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). He is the third NHGRI Director, having been appointed by NIH Director Dr. Francis Collins in 2009.
Dr. Green has been at the Institute for more than 25 years, during which he has had multiple key leadership roles. He served as the Institute’s Scientific Director for 7 years, Chief of the NHGRI Genome Technology Branch for 13 years, and Founding Director of the NIH Intramural Sequencing Center for 12 years.
For just over two decades, Dr. Green directed an independent research program that included integral start-to-finish roles in the Human Genome Project and groundbreaking work on mapping, sequencing, and characterizing mammalian genomes.
Dr. Green earned his M.D. and Ph.D. degrees in 1987 from Washington University in St. Louis; coincidentally, the word “genomics” was coined in that same year. During his career, Dr. Green has authored and co-authored over 375 scientific publications.
Professor Dame Sue Hill
NATIONAL HEALTH SERVICE (NHS) ENGLAND
Professor Dame Sue Hill Professor Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS is the Chief Scientific Officer for England and the head of profession for the healthcare science workforce in the NHS and associated bodies, providing professional leadership and expert clinical advice across the health and care system. She is a respiratory scientist by background with an international academic and clinical research reputation.
Professor Hill has a broad portfolio of policy responsibilities and has led a variety of major system and workforce transformation initiatives for the Government to improve patient outcomes and service effectiveness in the NHS and beyond.
Sue is the Senior Responsible Officer for Genomics in NHS England, driving the programme to introduce a nationwide Genomic Medicine Service transforming care pathways across a wide range of clinical conditions. This builds on her work in leading the NHS contribution to the 100,000 Genomes Project. She also provides strategic leadership for the Health Education England Genomics Education Programme.
Sue was made a Dame Commander of the British Empire in the 2018 Queen’s Birthday Honours in recognition of the scale of her contribution to British genomics.
Amit V. Khera
MASSACHUSETTS GENERAL HOSPITAL
Amit V. Khera, MD MSc, is a cardiologist at Massachusetts General Hospital (MGH), Associate Director of the Precision Medicine Unit in the MGH Center for Genomic Medicine, Associate Director of the Cardiovascular Disease Initiative at the Broad Institute of MIT and Harvard, and Assistant Professor at Harvard Medical School.
He received his MD with Alpha Omega Alpha distinction from the Perelman School of Medicine at the University of Pennsylvania, and went on to complete clinical training in Internal Medicine and cardiology at Brigham and Women’s Hospital and MGH. He completed a Masters of Science at the Harvard School of Public Health, and a postdoctoral research fellowship with Dr. Sekar Kathiresan in human genetics at the Broad Institute of MIT and Harvard prior to accepting a faculty position.
He has developed substantial expertise in epidemiology, clinical medicine, and human genetics. Among his scientific contributions, he pioneered a new approach to quantify genetic risk for common diseases, developed biomarkers that provide new biologic insights, and analyzed large-scale gene sequencing data to highlight key pathways driving risk for cardiometabolic disease. His research program uses genetic variation as a tool to uncover new biology and enable enhanced clinical care informed by inherited susceptibility.
In tandem with his research efforts he is co-leading a new Preventive Genomics Clinic at MGH to provide a clinical infrastructure for genome-first medicine.
Dr. Khera has authored more than 60 scientific publications, including lead-authored publications in the New England Journal of Medicine, Journal of the American Medical Association, Cell, Nature Reviews Genetics, Nature Genetics, Journal of the American College of Cardiology, and Circulation. He is a 2017 recipient of the National Lipid Association Junior Faculty Award and the 2019 recipient of the Douglas P. Zipes Distinguished Young Scientist Award from the American College of Cardiology.
Richard P. Lifton
Dr. Richard P. Lifton is the 11th President of The Rockefeller University, where he is also Carson Family Professor and Head of the Laboratory of Human Genetics and Genomics. He has pioneered the use of genetics and genomics to understand fundamental mechanisms underlying human diseases. He is well-known for his discovery that mutations with large effect on human blood pressure act by altering renal salt reabsorption and discoveries that have informed public health efforts and therapeutic strategies used worldwide to prevent heart attacks and strokes, and for his development of exome sequencing for clinical diagnosis and disease gene discovery, which has resulted in dramatic advances linking gene mutations to human disease, identifying new therapeutic targets for numerous diseases. Lifton graduated summa cum laude from Dartmouth College, obtained M.D. and Ph.D. degrees from Stanford University and completed training in Internal Medicine at Brigham and Women’s Hospital and Harvard Medical School. Prior to Rockefeller, he was on the faculty at Yale School of Medicine for 23 years, where he was Sterling Professor and chair of the Department of Genetics and founder of the Yale Center for Genome Analysis. He is a member of the National Academy of Sciences, the National Academy of Medicine, and the American Academy of Arts and Sciences. He has served on the governing councils of the former two organizations. He currently serves on the Scientific Advisory Boards of the Simons Foundation for Autism Research, the Chan-Zuckerberg Initiative Biohub, and the JPB Foundation. He is a Director of Roche and its subsidiary Genentech. He has previously served on the Advisory Council to the NIH Director, the Scientific Advisory Boards of the Whitehead Institute and the Broad Institute and the Massachusetts General Hospital. He has served as co-chair of the International Commission on the Clinical Use of Germline Genome Editing, chair of the National Academy of Sciences, National Academy of Engineering and Institute of Medicine Joint Governance Committee for the Reorganization of the National Academies, and as co-chair of the White House/National Institutes of Health Precision Medicine Working Group, which developed the scientific plan for the million person All of Us initiative. He has received numerous awards for his research, including the 2014 Breakthrough Prize in Life Sciences, the 2008 Wiley Prize, and the highest scientific awards of the American Heart Association, the American Society of Nephrology, the Council for High Blood Pressure Research, the International Society for Nephrology and the International Society for Hypertension. He has received honorary doctorates from Northwestern University, Mount Sinai School of Medicine and Yale University.
BIG DATA INSTITUTE (BDI), UNIVERSITY OF OXFORD
Professor Cecilia Lindgren is a Senior Group Leader at the Big Data Institute (BDI), Li Ka Shing Centre for Health Information and Discovery at University of Oxford. She received a Ph.D. in Molecular Genetics from Lund University and continued her career as a visiting researcher at the Whitehead Institute, MIT, USA where she trained in statistical genetics. After post-doctoral work at the Karolinska Institute, she joined the Wellcome Trust Centre for Human Genetics at Oxford University, after which she spent three years as a Scholar in Residence at the Broad Institute of Harvard and MIT before returning to Oxford. Her work has contributed to a substantial furthering of our understanding of the genetic landscape of obesity and fat distribution. In line with this, she is co-chairing a range of large-scale international consortia; the central adiposity team within the GiANT consortium, the Polycystic Ovary Syndrome (PCOS) consortium and she is a co-founder of the international Common Disease Alliance (ICDA), which she also co-chairs with Dr. Lander (the Founding Director of the Broad Institute). She has been awarded numerous awards, including the “Rising Star Award” from European Association for the Study of Diabetes (2010), the “Association for the Study of Obesity’s Obesity and Cardiovascular Health Award” (2011), the inaugural “Leena Peltonen Prize for Excellence in Human Genetics” (2013), ”30th Khwarizmi International Award” (2017) and the American Society of Human Genetics Mentorship Award (2018). Further, she has been listed amongst Thomson Reuters 100 “most highly cited researchers” in Molecular Biology and Genetics consecutively since 2014. Her research focuses on applying genetics and genomics to dissect the etiology of obesity related traits and their relationship with (female) reproductive health.
DEPARTMENT OF MEDICINE AT BRIGHAM WOMEN’S HOSPITAL IN BOSTON
Calum MacRae, MD, PhD, is the Vice Chair for Scientific Innovation in the Department of Medicine at Brigham and Women’s Hospital in Boston, Professor of Medicine at Harvard Medical School, a Principal Faculty Member at the Harvard Stem Cell Institute, and an Associate Member at the Broad Institute of Harvard and MIT. He was previously Chief of the Cardiovascular Medicine Division at Brigham and Women’s Hospital and Cardiology Fellowship Program Director at Massachusetts General Hospital.
Dr. MacRae works on the human genetics of disease, developmental contributions to health and disease, and on novel approaches to disease mechanism and drug discovery. He has a longstanding interest in the incorporation of genomics and novel large-scale datasets into clinical practice, systematic approaches to the discovery of new translatable digital biomarkers, and the role of disruptive innovation in refashioning the translational interface.
HUMAN GENETICS AT GENENTECH
Mark McCarthy is currently Senior Director of Human Genetics at Genentech, where he leads efforts within the company to use human genetics to advance the understanding of disease and further the development of novel therapeutic and preventative approaches. Prior to his move to the Bay Area in 2019, Mark was Robert Turner Professor of Diabetes Medicine at the University of Oxford. His academic research focuses on the identification and characterisation of genetic variants influencing risk of type 2 diabetes and related traits, and on using those discoveries to drive biological inference and translational opportunities. He played a leading role in major international efforts to identify the genetic variants that influence predisposition to type 2 diabetes including DIAGRAM, T2DGENES and GoT2D: these consortia used genome wide association and sequencing approaches to identify over 400 genetic signals for type 2 diabetes. With collaborators, his research has become increasingly focused on combining genetic and genomic data (gathered from diabetes-relevant tissues such as pancreatic islets) to gain insights into the molecular and pathophysiological mechanisms through which these signals operate. These discoveries reveal new translational opportunities in terms of target validation, risk stratification and biomarker discovery. At both Oxford and Genentech, one major research focus is the capacity to combine genetic and genomic evidence to stratify disease risk, and to dissect the etiological heterogeneity within broad clinical diagnoses (such as type 2 diabetes) in ways that explain individual variation in clinical outcomes such as disease progression, complication risk and therapeutic response.
Alan R. Shuldiner
REGENERON GENETICS CENTER
Dr. Shuldiner received his undergraduate degree in chemistry from Lafayette College, and his medical degree from Harvard Medical School. He completed residency training in internal medicine at Columbia Presbyterian Hospital, and his postdoctoral fellowship in Endocrinology and Metabolism in the Diabetes Branch at the National Institutes of Health. Dr. Shuldiner served on the faculty at Johns Hopkins University in Baltimore and at the University of Maryland School of Medicine where he was the John Whitehurst Endowed Professor of Medicine, and served as Associate Dean and founding director of the Program for Genetics 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, common disorders that contribute significantly to mortality, morbidity, and functional loss. 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. Dr. Shuldiner has authored more than 400 original articles in leading journals and 70 reviews and book chapters. He is the recipient of a number of awards including the prestigious Paul Beeson Physician Faculty Scholar award, Ellison Medical Foundation Senior Scholar award, University of Maryland Founders Day Researcher of the Year award, and Grant R.Wilkinson Distinguished Lectureship.
In September 2014, Dr. Shuldiner became Vice President of the Regeneron Genetics Center where he continues to work in discovery and translational genomics, applying high-throughput sequencing and analytical approaches to glean insights into human biology and to identify and validate novel drug targets for diseases of unmet need. He founded the DRIFT Program, which focuses on special and founder population genetic discovery and clinical translation.
BOSTON CHILDREN’S HOSPITAL
Dr. Tim Yu is a neurologist and researcher at Boston Children’s Hospital. He completed his MD and PhD at UC San Francisco and neurology residency at Massachusetts General Hospital and Brigham and Women’s Hospital, and is currently Staff Physician at Boston Children’s Hospital, Assistant Professor at Harvard Medical School and an Associate Member of the Broad Institute of MIT and Harvard. His research group in the Division of Genetics and Genomics works at the intersection of population genetics, bioinformatics, and neurobiology to study neurodevelopmental disorders and advance genomic medicine. Current projects range from computational analyses of large WES/WGS datasets for autism gene discovery, investigations of genome sequencing for newborn screening and neonatal ICU care, and the advancement of strategies for individualized genomic medicine for rare pediatric disorders.