Speakers

Portrait of Ami Bhatt

Leslie Biesecker

National Human Genome Research Institute

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

Children’s Hospital of Eastern Ontario

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.

Daniel Geschwind

University of California, Los Angeles

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 CellNeuron 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.

Katherine High

Children’s Hospital of Philadelphia

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

Chief Scientific Officer for England

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

Memorial Sloan Kettering Cancer Center

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.

Bruce Korf

University of Alabama, Birmingham

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

The Chinese University of Hong Kong

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

Institute for Genomic Medicine at Nationwide Children’s Hospital

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.

Jill Mesirov

University of California, San Diego School of Medicine

Jill Mesirov is associate vice chancellor for computational health sciences and professor of medicine at UC San Diego School of Medicine.  As associate vice chancellor, Mesirov is responsible for the overarching strategy for computational health sciences and research computing at UC San Diego School of Medicine.  She is a member of the UCSD Moores Cancer Center, where she serves as co-lead for the structural and functional cancer genomics research program.

Mesirov is a computational scientist who has spent many years working in the area of high-performance computing on problems that arise in science, engineering, and business applications. Her research focuses on cancer genomics applying machine-learning methods to functional data derived from patient tumors. The lab analyzes this molecular data to determine the underlying biological mechanisms of specific tumor subtypes, to stratify patients according to their relative risks of relapse, and to identify candidate compounds for new treatments. In addition, Mesirov is committed to the development of practical, accessible software tools to bring these methods to the general biomedical research community.  Her tools support almost 500,000 users worldwide.

Eric Minikel and Sonia Vallabh

Broad Institute

In 2010, Sonia Vallabh watched her 52 year old mother die of a rapid, mysterious, undiagnosed neurodegenerative disease. One year later, Sonia learned that her mother’s disease had been genetic, and that she herself had inherited the causal mutation, making it very likely she would suffer the same fate in 20 years’ time. There was no prevention, treatment, or cure available. Despite having no prior training in biology, Sonia and her husband Eric Minikel set out to re-train themselves as scientists and devote their lives to searching for a treatment or cure for her disease. They quit their jobs in consulting, started a scientific blog, began taking night classes and attending conferences, found new jobs in research labs, and eventually enrolled as PhD students in biology at Harvard Medical School. They are now based at the Broad Institute of MIT and Harvard where they have launched a new therapeutic initiative to discover drugs for her disease.

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Stephen Montgomery

Stanford University

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 genetic diseases. Dr. Montgomery has been an active member of multiple large-scale consortia including 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.

Susan A Slaugenhaupt, PhD

Mass General Research Institute

Dr. Slaugenhaupt is the Scientific Director of the Mass General Research Institute, a strategic initiative that supports the entire research enterprise at MGH to foster and sustain medical innovation.   She is also a Professor in the Department of Neurology at MGH and HMS, and an Investigator in the Center for Genomic Medicine. Dr. Slaugenhaupt’s research focuses on two neurological disorders, familial dysautonomia (FD) and mucolipidosis type IV (MLIV), as well as the common cardiac disorder mitral valve prolapse (MVP). Discoveries in Dr. Slaugenhaupt’s laboratory have led to the successful implementation of critical population screening for FD and MLIV, and to the development of a treatment for FD that directly targets the mRNA splicing mechanism.  Dr. Slaugenhaupt spearheads several programs and educational initiatives at Mass General, including a thriving undergraduate summer internship program. Her Research Institute team works to promote science at Mass General by increasing interactions with industry, by fundraising for Research Institute initiatives, including partnering with individual philanthropists, their families and foundations and by promoting Mass General research to the community through events and social media. She also co-directs the Partners Biobank at Mass General, an exciting initiative that will speed the translation of research discoveries into improved clinical care for patients.  In 2013, Dr. Slaugenhaupt was named the Elizabeth Riley and Dan E. Smith, Jr. MGH Research Scholar. In 2016, she was honored with a prestigious Javits Neuroscience Investigator Award by the National Institute for Neurological Disorders and Stroke (NINDS) at NIH, and in 2016 she was named one of the Top Ten Women to Watch in Science and Technology by the Boston Business Journal.

HEIDI L. REHM, PHD, FACMG

PARTNERS HEALTHCARE CENTER FOR PERSONALIZED GENETIC MEDICINE

Heidi L. Rehm, PhD, FACMG is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at Massachusetts General Hospital (MGH). She is also Medical Director of the Broad Institute Clinical Research Sequencing Platform and Professor of Pathology at MGH, Brigham & Women’s Hospital and Harvard Medical School. She is a board-certified laboratory geneticist and leader in defining standards for the interpretation of sequence variants and a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. Rehm also co-leads the Broad Center for Mendelian Genomics with Daniel MacArthur focused on discovering novel rare disease genes and co-leads the Matchmaker Exchange to aid in gene discovery. She is a strong advocate and pioneer of open science and data sharing, working to extend these approaches through her role on the executive committee of the Global Alliance for Genomics and Health. Rehm is also a principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support and a principal investigator of the Broad-LMM-Color All of Us Genome Center supporting the sequencing and return of results to a cohort of one million individuals in the US.

Rehm received her bachelor’s degree from Middlebury College in Molecular Biology and Biochemistry. She completed her PhD in Genetics at Harvard University studying the genetic and pathological basis of Norrie Disease, a deaf-blindness syndrome, and served as a postdoctoral fellow at Massachusetts General Hospital and Howard Hughes Medical Institute, expanding her studies into the genetic basis of hearing loss.

 

Eric Topol, MD

Scripps Research Translational Institute

Eric Topol is the Founder and Director of the Scripps Research Translational Institute (SRTI), Professor, Molecular Medicine, and Executive Vice-President of Scripps Research, As a researcher, he has published over 1200 peer-reviewed articles, with more than 200,000 citations, elected to the National Academy of Medicine, and is one of the top 10 most cited researchers in medicine (Thomson Reuters ISI, “Doctor of the Decade”). His principal scientific focus has been on the genomic and digital tools to individualize medicine—and the power that brings to individuals to drive the future of medicine.

In 2016, Topol was awarded a $207M grant from the NIH to lead a significant part of the Precision Medicine (All of Us) Initiative, a prospective research program that aims to enroll 1 million participants in the US. Prior to coming to lead Scripps SRTI in 2007, for which he is the principal investigator of a flagship $35M NIH CTSA grant, he led the Cleveland Clinic to become the #1 center for heart care and was the founder of a new medical school there. He has been voted as the #1 most Influential physician leader in the United States in a national poll conducted by Modern Healthcare. Besides editing several textbooks, he has published 2 bestseller books on the future of medicine: The Creative Destruction of Medicine and The Patient Will See You Now. His new book Deep Medicine: How Artificial Intelligence Can Make Health Care Human Again, will be published in early 2019.

Alicia Zhou

Color Genomics

Dr. Zhou leads Color’s research and scientific affairs team. She is responsible for leading research collaborations with academic institutions, biopharmaceutical companies, and large population initiatives. She is also responsible for managing a team that initiates, executes, and publishes peer-reviewed manuscripts and posters by Color’s scientists and engineers. In addition, Dr. Zhou is an active part of Color’s market development team for population genomics and population research. Dr. Zhou received her Ph.D. at Harvard and performed her postdoctoral work at UCSF with an emphasis on cancer genetics.

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