Euan Ashley, MD, PhD
Euan Ashley, MD, PhD, is Associate Professor of Medicine, Genetics and Biomedical Data Science at Stanford University. He is director of the Center for Inherited Cardiovascular Disease, the Clinical Genomics service and the Stanford Data Science Initiative. In 2010, he led the team that carried out the first clinical interpretation of a human genome.In 2013, he was recognized by the White House OSTP for contributions to Personalized Medicine. Currently, he serves as co-chair of the NIH Undiagnosed Diseases Network and sits on the Institute of Medicine Roundtable on Genomics and Health.
He also leads the MyHeart Counts team that collects cardiovascular risk data through an iPhone app. He is co-founder of Personalis and DeepCell.
Lyn Chitty, PhD, MBBS, MRCOG
UCL Great Ormond Street Institute of Child Health
Lyn Chitty,Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities, and was responsible for creating the fetal size standards now in use throughout the UK and beyond. Recently her main research interest has been around the use of circulating cell free DNA. She led an NIHR programme (‘Rapid Accurate Prenatal non-Invasive Diagnosis (RAPID) which resulted in NHS implementation of NIPD for rare diseases, and provided the evidence to support routine implementation into NHS maternity care of NIPT for aneuploidy. She continues to work on the implementation of new molecular techniques to improve prenatal diagnosis through the investigation of whole exome and genome sequencing and extended development of NIPD. She is an editor of the journal Prenatal Diagnosis. In 2014 she was appointed an NIHR Senior Investigator. In addition to her own research, she is Clinical Director of the NIHR Clinical Research Network: North Thames, responsible for delivery of the NIHR portfolio of studies across all specialties, and Clinical Director for the North Thames NHS Genomic Medicine centre which is delivering around 25% of the genomes for the 100,000 Genomes Project. This national transformation programme will result in implementation of personalised medicine in the NHS, and has led to a broadening of her research interests which now includes developing methods to ensure informed consent for sequencing.
Wendy Chung, MD, PhD
Columbia University Medical Center
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.
Ralph DeBerandinis, MD, PhD
Children’s Medical Center Research Institute at UT Southwestern
Ralph DeBerardinis, MD, PhD, earned a B.S. in biology from St. Joseph’s University and M.D. and Ph.D. degrees from the University of Pennsylvania. He was the first trainee in the combined residency program in pediatrics and medical genetics at The Children’s Hospital of Philadelphia and received several awards for teaching and clinical care. He ultimately achieved board certification in pediatrics, medical genetics and clinical biochemical genetics. Dr. DeBerardinis performed postdoctoral research in Craig Thompson’s laboratory in the Penn Cancer Center from 2004 to 2007. He joined the faculty of the University of Texas Southwestern Medical Center in 2008 and joined the Children’s Medical Center Research Institute at UT Southwestern (CRI) shortly after its founding in 2012. Dr. DeBerardinis serves as chief of Pediatric Genetics and Metabolism at UT Southwestern and director of the Genetic and Metabolic Disease Program in the CRI. His laboratory is interested in the role of altered metabolic states in human diseases, particularly pediatric inborn errors of metabolism and cancer.
Aris N. Economides, PhD
Dr. Aris N. Economides received his Ph.D. in Biochemistry from Michigan State University in 1992, and promptly joined Regeneron Pharmaceuticals. He currently holds the position of Vice President, leading two groups: Genome Engineering Technologies, and Skeletal Diseases Therapeutic Focus Area. In addition, he is a co-founder of Regeneron Genetics Center (RGC), where he is also Head of Functional Modeling. Dr. Economides co-invented Cytokine Traps, VelociGene®, and VelocImmune®, all part of an integrated methodology for target discovery, validation, and the generation of biologic drugs such as the IL1 and VEGF traps, as well as therapeutic antibodies. As part of his involvement with the RGC, Dr. Economides has been working to elucidate the molecular pathophysiology of Mendelian disorders. A recent example is his work in Fibrodysplasia Ossificans Progressiva, where he and his team discovered a novel mechanism that explains important aspects of FOP’s pathophysiology and pinpoints a new potential route to therapy.
David R FitzPatrick MD, FRCP, FRCPath
University of Edinburgh
David FitzPatrick is an academic paediatric geneticist based in at the MRC Human Genetics Unit at the University of Edinburgh. He leads a lab-based research group focused on understanding the genetic basis of developmental disorder and is joint head of the Disease Mechanisms Section. He is a graduate of the University of Edinburgh Medical School and trained in paediatrics and clinical genetics the Royal Hospitals for Sick Children in Edinburgh, Bristol and Glasgow. He was a Wellcome Trust Clinical Training Fellow at the University of Glasgow and subsequently a Howard Hughes Clinical Research Training Fellow with Professor David Valle at Johns Hopkins Hospital in Baltimore. He returned to Edinburgh as a consultant in Clinical Genetics in 1994 and moved to the MRC Human GU in March 2000.
He has a long-standing research interest in the genetic causes of severe developmental disorders. In particular he has worked on finding disease loci for major eye malformations: identifying the major cause as heterozygous, de novo, loss-of-function mutations in SOX2. Whole exome sequencing has enabled the identification of several novel loci such as YAP1 and MAB21L2 for severe bilateral coloboma. David FitzPatrick is also one of the leads on the large-scale, UK-wide, trio-based exome sequencing project Deciphering Developmental Disorders (DDD). This project has collected biological samples and phenotypic data on 14,000 probands with developmental disorders (10,000 with sample from both parents). His specific interest within DDD is the development of the DDG2P reporting pipeline and the identification of discriminative phenotypic patterns that can predict particular disease genes.
A common theme of this work is the requirement for innovative uses of genetic technologies to identify and validate causative mutations affecting the structure or regulation of individual genes.
Elodie Ghedin, PhD
New York University
Elodie Ghedin, PhD, Professor of Biology and Global Public Health, is a member of the Center for Genomics and Systems Biology at New York University. Her laboratory uses comparative genomics, evolutionary biology, and systems biology techniques to generate critical insight about host-pathogen interactions. Prof. Ghedin studies microbial and viral population structures, and how these impact host response to infection and emerging infectious diseases. Her research has recently focused on characterizing influenza virus diversity within and across infected hosts and the interactions of microbes in the respiratory tract to better understand the dynamics of viral transmission and evolution.
Prof. Ghedin received her BS in Biology and PhD in Molecular Parasitology from McGill University, and a MS in Environmental Sciences from the Université du Québec à Montréal. She was a postdoctorate fellow at the National Institute of Allergy and Infectious Diseases/NIH before joining the Institute for Genomic Research (TIGR; now the J. Craig Venter Institute) where she initiated the Virus Genomics group and led the Influenza Genome Sequencing Project funded by NIAID. She joined the NYU faculty in April 2014, following 8 years at the University of Pittsburgh School of Medicine. In 2011, citing the creativity and collaborative nature of her work, and her contributions to parasitology and virology, Dr. Ghedin was recognized as a fellow by the MacArthur Foundation. In 2012, she was also named a Kavli Frontier of Science Fellow.
Geoffrey S Ginsburg, MD, PhD
Director, Center for Applied Genomics & Precision Medicine
Duke University School of Medicine
School of Medicine-Pratt School of Engineering
Professor of Medicine and Pathology
Duke University Medical Center
Professor of Biomedical Engineering
Duke Pratt School of Engineering
Professor in the School of Nursing Duke University
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.
Professor Gail Jarvik MD, PhD
University of Washington in Seattle
Professor Gail Jarvik M.D., Ph.D. is an internist and medical geneticist who holds the Arno G. Motulsky Endowed Chair in Medicine and heads the Division of Medical Genetics at the University of Washington in Seattle. She cares for adult medical genetics patients. Her research focuses on the statistical genetic analysis of common diseases, including cancer, vascular disease, and dementia. She has broad research interests in the implementation of genomic medicine. Her active research in biomedical ethics, includes returning genomic research results to participants and the impact of regulations on genomic research. She is a PI in both the Electronic Medical Records and Genomics (eMERGE) and clinical sequencing exploratory research (CSER) consortia.
Clara van Karnebeek, MD, PhD, FCCMG
BC Children’s Hospital
Clara van Karnebeek, MD, PhD, FCCMG, is an Investigator with BC Children’s Hospital and the principal Investigator at the Centre for Molecular Medicine and Therapeutics. She is also a clinical Assistant Professor, Division of Biochemical Diseases, Department of Pediatrics, Faculty of Medicine, University of British Columbia. Her research areas include:
- Discovery of novel gene defects via integrated genomics and metabolomics
- Treatable inborn errors of metabolism causing intellectual disability and epilepsy
- Clinical and digital tools for the prevention, enhanced diagnosis and treatment of intellectual disability
Dr. van Karnebeek’s research is aimed at discovering new inborn errors of metabolism, a class of genetic diseases that is particularly amenable to treatment. Her team uses a multidisciplinary approach involving the study of three “-omics” in patients: phenomics, their physical and biochemical properties, genomics, their genetic information, and metabolomics, their metabolite profiles. She established two large collaborative efforts, the Treatable Intellectual Disability Endeavor in BC (TIDEBC.org with Sylvia Stockler), and the international Omics2TreatID (omics2treatid.org), aimed at harnessing these new technologies for the discovery of genetic defects in children who present with intellectual disabilities and providing clinicians the tools for early recognition and management.
Daniel MacArthur, PhD
Harvard Medical School
Daniel MacArthur is an Assistant Professor at Harvard Medical School and Massachusetts General Hospital and the Co-Director of Medical and Population Genetics and the Center for Mendelian Genomics at the Broad Institute of Harvard and MIT. His research focuses on the use of genomic approaches to uncover the functional impact of human genetic variation, and especially its role in causing severe Mendelian diseases. He currently coordinates the Genome Aggregation Database (gnomAD), which has aggregated and jointly processed exome and genome sequence data from over 140,000 individuals, made publicly available through the widely-used ExAC and gnomAD browsers. His group also applies a variety of genomic technologies, including exome, whole-genome, and transcriptome sequencing, to improve the diagnosis of patients with rare disease. To date his lab has sequenced over 3,000 samples and provided genetic diagnoses for over 500 families suffering from these diseases. He now co-directs the newly created Center for Mendelian Genomics at the Broad Institute, established with a grant from NHGRI, which will apply genomic technologies to the diagnosis of over 7,000 rare disease families over the next four years.
MacArthur received his BMedSc and PhD from the University of Sydney, Australia, and completed postdoctoral training at the Wellcome Trust Sanger Institute in Cambridge, UK before beginning his current position in 2012.
Alexandra Snyder, MD
Memorial Sloan Kettering Cancer Center
Alexandra Snyder,MD, is a translational physician scientist at Memorial Sloan Kettering Cancer Center (MSKCC) who specializes in the study of tumor genetics and response to checkpoint blockade immunotherapy in solid tumors, with a particular focus on ovarian cancer. Dr. Snyder received her medical degree at the Mount Sinai School of Medicine. She completed internal medicine training at Mount Sinai Hospital and medical oncology fellowship at MSKCC, where she was Chief Fellow. She is now an Assistant Attending on the Gynecologic Medical Oncology and Immunotherapeutics services at MSKCC. Her prior studies, published in the New England Journal of Medicine and Science highlighted the correlation between elevated mutation and neoantigen burden and clinical benefit from checkpoint blockade therapies. Her current work extends these methodologies to provide an integrated understanding of the tumor and tumor microenvironment. Her long-term goal is to combine conventional and immune therapies in ovarian cancer in order to permit disease control by the immune system, with decreased toxicity and increased survival.
Joyce Tung, PhD
Joyce Tung, PhD is Vice President of Research for 23andMe. She joined 23andMe in 2007 and manages the 23andMe research team, which is responsible for consumer health and ancestry research and development, academic and industry collaborations, computational analyses for therapeutics, and new research methods and tools development. While a postdoctoral fellow at Stanford University, Joyce studied the genetics of mouse and human pigmentation. She earned her PhD in Genetics from the University of California, San Francisco where she was a National Science Foundation graduate research fellow.
Ignatia B. Van den Veyver, MD
Baylor College of Medicine and Texas Children’s Hospital
Ignatia B. Van den Veyver, M.D. is a Professor in the Department of Obstetrics and Gynecology and the Department of Molecular and Human Genetics in Houston, Texas. She is Director of Clinical Prenatal Genetics at Baylor College of Medicine and Texas Children’s Hospital and a faculty member of the Texas Children’s Hospital Fetal Center. Her clinical translational research focuses on exploring novel genetic and genomic methods of prenatal genetic testing and the complexities of their integration into prenatal care with a specific interest in application of prenatal exomes, counseling for various new technologies and development of cell-based non-invasive prenatal diagnosis. She also oversees a research laboratory located in the Jan and Dan Duncan Neurological Research Institute where she performs translational and basic research on the molecular genetics and epigenetics of human developmental disorders and reproductive epigenetics. She has published extensively in these various fields and her research is funded by the NIH and private foundations. She is also President (2016-2018) of the International Society for Prenatal diagnosis.