Stephen B. Montgomery is an Associate Professor of Pathology, Genetics and, by courtesy, Computer Science at Stanford University. His laboratory focuses on both functional genomics and bioinformatics approaches to understanding the molecular origins of rare and common genetic diseases. Montgomery has been an active member of multiple large-scale consortia including GREGoR, GTEx and MoTrPAC. His laboratory has developed novel transcriptome-based approaches to identifying impactful rare variants in individuals, families and populations and for measuring gene-by-environment effects.
Dr. Biesecker is a clinical and molecular geneticist and Chief of the Medical Genomics and Metabolic Branch at the National Human Genome Research Institute of the National Institutes of Health, which he joined in 1993. He uses genetic and genomic technologies to study heritable disorders and has published over 300 primary research articles, reviews, and chapters. His laboratory has elucidated the etiology and natural history of numerous diseases. In addition, he developed the ClinSeq® program, which began clinical genomics research in 2006, before the widespread availability of next generation sequencing. He co-directs a CLIA-certified molecular diagnostic laboratory within NHGRI.
Dr. Biesecker is an editor or board member for several biomedical journals, was a member of the board of directors for the American Society of Human Genetics, and served on the advisory panels for the World Trade Center victim identification effort. He was recently elected to the National Academy of Medicine of the National Academy of Science and has been elected to be the President of the American Society of Human Genetics for 2019.
Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO) and a Senior Scientist at the CHEO Research Institute. Dr. Boycott’s research program in rare diseases bridges clinical medicine to basic research and is focused on understanding the molecular pathogenesis of these disorders to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium integrating genomic and other –omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she co-leads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare disease agenda forward through her roles in the International Rare Diseases Research Consortium, the Global Alliance for Genomics and Health, and the Global Commission to End the Diagnostic Odyssey for Children.
Dr. Geschwind is the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at UCLA. In his capacity as Senior Associate Dean and Associate Vice Chancellor of Precision Health, he leads the Institute for Precision Health at UCLA. His laboratory has pioneered the application of systems biology methods in neurologic and psychiatric disease, with a focus on autism spectrum disorders (ASD) and neurodegenerative conditions. A goal of this work is to understand how genetic variation increases risk for disease, fueling therapeutic development via improved understanding of causal factors and disease mechanisms. Dr. Geschwind has also put considerable effort into fostering large-scale collaborative patient resources for genetic research and data sharing in autism research. He has served on several scientific advisory boards, including the Faculty of 1000 Medicine, the Scientific Advisory Board for the Allen Institute for Brain Science, the NIMH Advisory Council and the NIH Council of Councils. He has published over 400 papers and currently serves on the editorial boards of Cell, Neuron and Science. He has received several awards for his laboratory’s work and leadership including the Ruane Prize from the Brain and Behavior Foundation in 2013 and the Derek Denny-Brown Neurological Scholar Award from the American Neurological Association (ANA) in 2004. He is an elected Member of the American Association of Physicians and the National Academy of Medicine.
Dr. Kathy High, an accomplished hematologist with a longstanding interest in gene therapy for genetic disease, began her career studying the molecular basis of blood coagulation and the development of novel therapeutics for the treatment of bleeding disorders.
Her pioneering bench-to-bedside studies of gene therapy for hemophilia led to a series of studies that characterized the human immune response to AAV vectors in a variety of target tissues. Kathy’s work has evolved to encompass clinical translation of potential gene therapies for multiple inherited disorders. As the director of the Center for Cellular and Molecular Therapeutics at the Children’s Hospital of Philadelphia, Kathy assembled a multidisciplinary team of scientists and researchers working to discover new gene and cell therapies for genetic diseases and to facilitate rapid translation of preclinical discoveries into clinical application.
Professor Dame Sue Hill Professor Sue Hill DBE PhD DSc CBiol FRSB Hon FRCP Hon FRCPath 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 for the past decade she 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. Additionally, Sue provides strategic leadership for the Health Education England Genomics Education Programme.
David Hyman is Chief of Early Drug Development at Memorial Sloan Kettering Cancer Center. He leads a large multidisciplinary group of researchers and physicians to conduct a variety of early phase clinical studies including first-in-human studies, novel combinations of investigational therapy, and histology-independent, molecularly selected “basket” studies. Under his direction, this service enrolls approximately 300 patients each year to a clinical trial portfolio of 40 early phase studies. In addition to conducting first-in-human studies, Dr. Hyman’s personal research has focused on the development of genomically selected targeted therapies. In particular, Dr. Hyman has helped to pioneer the use of multi-histology, genomically selected, “basket” studies which select patients based on the mutations harbored in their cancer rather than where the cancer came from. Dr. Hyman led the first-in-kind basket study that evaluated vemurafenib in BRAFV600 mutant cancers and published his initial findings in the New England Journal of Medicine. Dr. Hyman also led global development of larotrectinib in TRK-fusion positive cancers, establishing this as the first ever targeted therapy to be highly efficacious in tumor agnostic manner, also publishing these results in the New England Journal of Medicine. Dr. Hyman also published the results of another basket study of in ERBB2 mutant cancers in Nature, one of the first clinical trials ever published in this journal. Dr. Hyman has published extensively on the design and conduct of precision medicine and basket studies as well as their utility and limitations in multiple journals including Cell, Cancer Discover, JCO and PLOS Medicine. Dr. Hyman’s translational research is focused on understanding how the consequences of pathway inhibition vary as a function of tumor cell lineage and the complement of co-mutations within tumor cells. Dr. Hyman also has clinical expertise in gynecological cancers with a special interest in treating women with uterine sarcomas.
Dr. Korf is the Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, Professor of Genetics, Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine, Associate Director for Rare Diseases, Hugh Kaul Personalized Medicine Institute and editor-in-chief of the American Journal of Human Genetics.
He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics and Genomics (clinical genetics, clinical cytogenetics, and clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium, the Alabama Genomic Health Initiative, and the Southern All of Us Network. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook (now in third edition), Emery and Rimoin’s Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics.
Dennis Lo is the Li Ka Shing Professor of Medicine and Professor of Chemical Pathology of The Chinese University of Hong Kong. He obtained his undergraduate medical training from the University of Cambridge and his Doctor of Medicine and Doctor of Philosophy degrees from the University of Oxford. He discovered the presence of cell-free fetal DNA in maternal plasma in 1997 and has translated this discovery into a new platform for non-invasive prenatal testing which is now used globally. He has received numerous awards and honors for his research, including elections to the Royal Society and the US National Academy of Sciences, and awards of the Future Science Prize in 2016.
Elaine Mardis, PhD is co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital and the Nationwide Foundation Endowed Chair of Genomic Medicine. She also is Professor of Pediatrics at The Ohio State University College of Medicine. Dr. Mardis joined Nationwide Children’s Hospital in 2016.
Educated at the University of Oklahoma with a B.S. in Zoology and a Ph.D. in Chemistry and Biochemistry, Dr. Mardis did postgraduate work in industry at BioRad Laboratories. She was a member of the faculty of Washington University School of Medicine from 1993-2016.
Dr. Mardis has authored over 350 articles in prestigious peer-reviewed journals and has written book chapters for several medical textbooks. She serves as an associate editor for three peer-reviewed journals (Disease Models and Mechanisms, Molecular Cancer Research, and Annals of Oncology) and is Editor-in-Chief of Molecular Case Studies, published by Cold Spring Harbor Press. Dr. Mardis has given lectures at scientific meetings worldwide and was awarded the Morton K Schwartz award from the American Association for Clinical Chemistry in 2016. She has been listed since 2013 as one of the most highly cited researchers in the world by Thompson Reuters. Dr. Mardis has been a member of the American Association for Cancer Research (AACR) since 2007, was the program committee chair for the 2018 AACR Annual Meeting and is the current AACR President. She was elected a Fellow of the AACR Academy in 2019.