JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE
Mary Armanios is Professor of Oncology and Genetic Medicine at the Johns Hopkins University School of Medicine. Her research has been focused on understanding the role of telomeres and telomerase in disease. Dr. Armanios earned her medical degree at the Ohio State University, where she went on to complete a combined internal medicine and pediatrics residency. She then moved to Johns Hopkins to complete her medical oncology fellowship. She is currently Clinical Director of the Telomere Center at Johns Hopkins. Dr. Armanios is a member of the American Society for Clinical Investigation and the Association of American Physicians and serves as Associate Editor of the Journal of Clinical Investigation.
Catherine Ball, Ph.D. has served as Chief Scientific Officer for AncestryDNA, LLC since September 2016. She joined Ancestry in 2011 as Vice President of Genomics and Bioinformatics, helping to establish the Company’s approach to genetic genealogy leading to the launch of AncestryDNA. Cathy is a genomic scientist who has annotated and mined the genomes of various organisms and created resources to help clinicians, citizens and other scientists exploit and explore genome data. Her career has focused on helping people around the world appreciate, understand and use their own genomic data. Cathy has collaborated on the annotation of the first sequenced eukaryotic genome (brewer’s yeast) and has collaboratively built databases to explore the genomes of yeast, E. coli and the bacterium that causes tuberculosis. As a pioneer in data analysis resources for high-throughput biomedical technologies, she led the Stanford Microarray Database, the largest academic database of its kind. Cathy has used high-throughput biomedical data to shed light on diverse research topics, from the biology of infectious organisms to the mechanisms involved in cell division and cancer. She has presented seminars at leading universities and contributes to National Institutes of Health committees. She received a B.S. in Biology and a Ph.D. in Molecular Biology from the University of California, Los Angeles. Cathy was a post-doctoral fellow at the University of California, Berkeley prior to her research in the Departments of Genetics and Biochemistry at Stanford University School of Medicine.
Francis S. Collins
National Institutes of Health (NIH)
Francis S. Collins, M.D., Ph.D. was appointed the 16th Director of the National Institutes of Health (NIH) by President Barack Obama and confirmed by the Senate. He was sworn in on August 17, 2009. On June 6, 2017, President Donald Trump announced his selection of Dr. Collins to continue to serve as the NIH Director. In this role, Dr. Collins oversees the work of the largest supporter of biomedical research in the world, spanning the spectrum from basic to clinical research. Dr. Collins is a physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the completion of a finished sequence of the human DNA instruction book. He served as director of the National Human Genome Research Institute at NIH from 1993-2008. Before coming to NIH, Dr. Collins was a Howard Hughes Medical Institute investigator at the University of Michigan. He is an elected member of the National Academy of Medicine and the National Academy of Sciences, was awarded the Presidential Medal of Freedom in November 2007, and received the National Medal of Science in 2009.
NASA HUMAN RESEARCH PROGRAM (HRP)
Dr. Fogarty is the NASA Human Research Program (HRP) Chief Scientist. As HRP Chief Scientist, Jennifer works with the HRP Elements on the development and oversight of an extensive research portfolio addressing solutions to the diverse human system risks to enable human exploration of space. This role requires communication and collaboration with current flight Programs, International Partners, as well as developmental spaceflight Programs that will be implementing risk reduction strategies developed and informed by HRP research and technology development. In addition, Jennifer establishes and maintains relationships and collaborations with external institutions and other government agencies to assess fundamental and mechanistic discoveries as well as innovative prevention and treatment strategies. Before taking on this leadership role in the HRP, Jennifer was the Translational Scientist for NASA Space and Clinical Operations Division in the Human Health and Performance Directorate. Jennifer facilitated communication, project development, and Program interactions between the operations and research communities. She identified candidates for the transition to operations process to reduce risk and resource utilization with overall goal of preserving astronaut health and performance during and after missions. Previously, Jennifer was the Open Collaboration and Innovation Manager responsible for developing and maturing collaborations and applying tools such as technical gap analysis and open innovation platforms to further research, enhance clinical resources, and facilitate technology development.
Dr. Fogarty received a PhD from Texas A&M University System Health Science Center. She is currently on the editorial team for the Fundamentals of Aerospace Medicine 5th edition, regularly lectures on space physiology and human system risk management, and has continued interacting with the research and technology development community through NASA’s Human Health and Performance Center and the Human Research Program.
Leroy E. Hood
PROVIDENCE HEALTH & SERVICES
Dr. Leroy E. Hood graduated from the Johns Hopkins University School of Medicine in 1964 with an MD and from Caltech with a PhD in biochemistry in 1968. After three years
as a Senior Investigator at NIH, his academic career began at Caltech, where he and his colleagues developed the DNA gene sequencer and synthesizer, and the protein synthesizer and sequencer–four instruments that paved the way for the successful mapping and understanding of the human genome. A pillar in the biotechnology field, Dr. Hood has played a role in founding fifteen biotechnology companies including Amgen, Applied Biosystems, Integrated Diagnostics and Arivale. He is a member of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. Of the more than 6,000 scientists world-wide who belong to one or more of these academies, Dr. Hood is one of only fifteen people nominated to all three. Dr. Hood has co-authored numerous textbooks in biochemistry, immunology, molecular biology and genetics, as well as a popular book on the human genome project, The Code of Codes and he is just finishing a text on systems biology. He is the recipient of numerous national and international awards, including the Lasker Award for Studies of Immune Diversity (1987), the Kyoto Prize in advanced technology (2002), the Heinz Award for pioneering work in Systems Biology (2006), and the coveted NAE 2011 Fritz J. and Delores H. Russ Prize for developing automated DNA sequencing. In addition to having received 17 honorary degrees from prestigious universities in the U.S. and abroad, Dr. Hood has published over 850 peer-reviewed articles and currently holds 36 patents. In 2013, he received the National Medal of Science from President Obama. Hood has been named by The Best Schools as one of the 50 Most Influential Scientists in the World Today (2014).Scientific American has named Hood as one of the top 6 in their selection of 100 biotech visionaries world-wide (2015).
Dr. Marco Marra
MICHAEL SMITH GENOME SCIENCES CENTRE
Dr. Marco Marra, OBC, PhD, FRSC, FCAHS, is Director of Canada’s Michael Smith Genome Sciences Centre at the BC Cancer; Professor and Head of the Department of Medical Genetics at UBC and the BC Node Leader for the Terry Fox Research Institute. He uses genome science to study cancers. His recognitions include member of the Order of British Columbia, the 2019 Don Rix Lifetime Achievement Award, the Canadian Cancer Research Alliance’s Outstanding Achievement in Cancer Research Award, the Dr. Chew Wei Memorial Prize in Cancer Research and Fellow of the Royal Society of Canada. Dr. Marra has received honorary degrees from Simon Fraser University and from the University of Calgary.
Dr. Marra has spent much of his career working within and leading interdisciplinary teams seeking to study fundamental problems in cancer genome biology. His current research activities revolve around the interplay between the cancer genome and the epigenome, with particular focus on the evolution of treatment resistant cancers.
Richard M. Myers
Richard M. Myers, PhD, joined the HudsonAlpha Institute for Biotechnology in 2008 as president and science director. He supplies the strategic oversight for the research enterprise at the Institute including sustaining a large, active laboratory. Myers brings 38 years of experience in genetics and genomics to his position.
Myers received his BS in biochemistry from The University of Alabama in 1977 and his PhD in biochemistry from the University of California at Berkeley in the lab of Robert Tjian in 1982. He completed his postdoctoral training at Harvard University in the lab of Tom Maniatis, and then joined the faculty of the University of California, San Francisco, Medical Center in 1985. He moved to Stanford University School of Medicine in 1993, where he served as professor and chair in the department of genetics. Under Myers’ direction, the Stanford Human Genome Center with the Joint Genome Institute contributed more than 10 percent of the data in the public Human Genome Project’s efforts to sequence the human genome.
The Myers Lab, in collaborative relationships with other researchers at HudsonAlpha and elsewhere, studies the human genome with the goal of understanding how allelic variation and gene expression changes contribute to human traits, including diseases, behaviors and other phenotypes. His group uses high-throughput genomic methods – including DNA sequencing, genotyping, chromatin immunoprecipitation, mRNA expression profiling, transcriptional promoter and DNA methylation measurements – as well as computational and statistical tools to identify, characterize and understand the functional elements encoded in our genomes and how they work together at the molecular level in normal and pathological conditions. The lab sequences whole genomes, whole exomes and targeted regions of the genome, as well as in functional genomics experiments, with ultrahigh-throughput DNA sequencing technologies to study clinical and basic biological problems. Researchers in the Myers Lab integrate these functional genomics, epigenetic and genetic data to understand how genomes are involved in brain disorders, ALS, cancer, children born with developmental disorders, autoimmune diseases and other traits.
UNIVERSITY OF CHICAGO
The Novembre research group uses computational tools to study genetic diversity in natural populations. Our goal is to develop widely used statistical methods for intelligently extracting information from large-scale genomic data with the aim to improve understanding of: (1) basic genomic biology, (2) the biology of heritable disease traits, (3) the genetic basis of evolutionary processes, and (4) the history and evolution of various species, especially humans. From a disciplinary perspective, most of the ideas we use are from theoretical population genetics, statistical genetics, and computational statistics. Much of our work is invigorated by addressing data from emerging genotyping and sequencing technologies applied to large or particularly interesting population samples.
WELLCOME SANGER INSTITUTE (WSI)
Sarah Teichmann is interested in global principles of regulation of gene expression and protein complexes, specifically in the context of immunity. Sarah did her PhD at the MRC Laboratory of Molecular Biology, Cambridge, UK and was a Beit Memorial Fellow at University College London. She started her group at the MRC Laboratory of Molecular Biology in 2001. In 2013, she moved to the Wellcome Genome Campus in Hinxton/Cambridge, jointly with the EMBL-European Bioinformatics Institute and the Wellcome Sanger Institute (WSI). In January 2016 she became Head of the Cellular Genetics Programme at the WSI. Sarah is an EMBO member and a Fellow of the Academy of Medical Sciences, and her work has been recognized by a number of prizes, including the Lister Prize, Biochemical Society Colworth Medal, Royal Society Crick Lecture, EMBO Gold Medal and the Mary Lyon Medal.
UVM INTEGRATIVE GENOMICS
Scott Tighe is currently senior researcher analyst at the UVM Integrative Genomics facility which handles all advanced genomic analysis for the University of Vermont and associated institutes. His expertise is all areas of genomics and microbiology including NextGen and Sanger sequencing, Microarray, PCR, single cell analysis, flow cytometry, and experimental design. Scott Is a microbiologist with a strong background in microbial identification (fungi, bacteria, algae). He has also worked in the field of optics, biophotonics, and holography to develop new disruptive technologies for 3D optical data storage and biomolecular detection of nucleic acids and nerve agents. His current research involves advancing general techniques used for metagenomics and microbiome analysis through applications on extreme environments. He is Chair of the ABRF Metagenomics Research Group and Extreme Microbiome Project (XMP) and co-leader of the International Metagenomics and Microbiome Standards Alliance at NIST and a member of the Genomics Standards Consortium.
DIRECTOR, INVESTIGATIVE GENETIC GENEALOGY, GENE BY GENE, HOUSTON, TX
Barbara Rae-Venter, J.D., Ph.D., is a retired intellectual property attorney who specialized in the patenting of biotechnology inventions. She earned a J.D. from the University of Texas at Austin Law School and a B.A. double major in Psychology and Biochemistry (Special Projects) and a Ph.D. in Biology (Biochemistry) at the University of California at San Diego. She is licensed to practice before the US Patent and Trademark Ofﬁce and the State Bar of California (inactive). Barbara is a Search Angel with DNAAdoption.org helping adoptees ﬁnd their birth relatives and also helps teach the online autosomal DNA (atDNA) classes that DNAAdoption.org offers to help adoptees use their atDNA to ﬁnd birth relatives. Barbara’s identiﬁcation of the mother of Lisa Jensen, abducted in infancy and then abandoned by her abductor as a 5 year, led to solving the murder of the Allenstown Four in Allenstown, NH. Barbara subsequently determined the true identify of Lisa’s abductor, a man of many aliases, as Terry Peder Rasmussen. More recently, using the same technique as she used to identify Lisa and Rasmussen, Barbara identiﬁed a suspect for the notorious Golden State Killer as Joseph James DeAngelo. The technique Barbara used in these three cases is now being used to solve many previously
For her work, Barbara was recognized by the journal Nature as one of “10 people Who Mattered In Science In 2018″. She has also been recognized as one of Time 100’s Most Inﬂuential People of 2019. Barbara continues to work with law enforcement assisting with identiﬁcation of suspects in violent crimes and the identiﬁcation of unidentiﬁed victims of violent crime. See here for an example of a recent case on which Barbara assisted. Barbara also helps to train law enforcement professionals in the use of atDNA. Barbara can be reached at email@example.com.
INSTITUTE FOR GENOMIC MEDICINE, NATIONWIDE CHILDREN’S HOSPITAL
Richard K. Wilson, PhD, is the founding Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital, Nationwide Foundation Endowed Chair in Genomic Medicine, and Professor of Pediatrics at the Ohio State University College of Medicine. He received his A.B. degree from Miami University in Ohio (Microbiology, 1981), his Ph.D. from the University of Oklahoma (Chemistry and Biochemistry, 1986), and was a Research Fellow in the Division of Biology at the California Institute of Technology. In 1990, Dr. Wilson joined the faculty of Washington University School of Medicine where he cofounded the Genome Sequencing Center/McDonnell Genome Institute. At Washington University, Dr. Wilson was the Alan A. and Edith L. Wolff Distinguished Professor of Medicine, Professor of Genetics, Professor of Molecular Microbiology, and a member of the Senior Leadership Committee of the Siteman Cancer Center.
Dr. Wilson is an expert in molecular genetics and large-scale genomics, and his laboratories have been among the world’s leaders in genome analysis. His teams have sequenced and analyzed billions of bases of DNA from the genomes of bacteria, yeast, plants, invertebrates, vertebrates, primates and humans. Dr. Wilson and his colleagues at Washington University sequenced the first animal genome – that of the roundworm Caenorhabditis elegans – and contributed substantially to the sequencing and analysis of the human genome. They also sequenced the genomes of the mouse, chimpanzee, orangutan, gorilla, rhesus macaque, platypus, the plants Arabidopsis thaliana and Zea mays (corn), as well as various invertebrates, insect vectors and microorganisms. His team was the first to sequence the genome of a cancer patient and discover genetic signatures relevant to the pathogenesis of the disease. Building upon these achievements, the mission of Dr. Wilson’s institute at Nationwide Children’s Hospital is to utilize cutting-edge genome sequencing and analysis technology to discover clues that will lead to more effective diagnosis and treatment of cancer and other human diseases in children and adults.
In 2008, Dr. Wilson was elected as a Fellow of the American Association for the Advancement of Science. He also has received Distinguished Alumni awards from both of his alma maters.
CALIFORNIA INSTITUTE OF TECHNOLOGY
Dr. Barbara Wold is the Bren professor of molecular biology and director of the Beckman Institute at Caltech. A substantial biological challenge is to understand the regulation and execution of developmental decisions that lead from multipotential, undifferentiated precursor cells to their specialized differential products. In the Wold lab at the California Institute of Technology, we are interested in several interrelated aspects of this problem, and we also work to develop new methods for studying it. The particular cell lineage problem we study begins with the specification of mesoderm in early development and continues to the final differentiation of skeletal muscle or cardiac muscle in the fully developed animal. To study this process we use the mouse as our experimental system. Molecular-level analyses use cell culture model systems and transgenic mice. These projects include studies of in vitro and in vivo protein-DNA interactions and of factors that amplify or suppress expression activity. Computational approaches involve the development of algorithms for use in large-scale gene expression analysis and the construction of a simulator framework for regulation in muscle development.
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, 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.