The Scientific Organizing Committee
Michael Berger, PhD
Memorial Sloan Kettering Cancer Center
Michael Berger, PhD, is an Associate Director of the Marie-Josée and Henry R. Kravis Center for Molecular Oncology at Memorial Sloan Kettering Cancer Center, a multidisciplinary initiative to promote precision oncology through genomic analysis to guide the diagnosis and treatment of cancer patients. He is also an Associate Attending Geneticist in the Department of Pathology with expertise in cancer genomics, computational biology, and high-throughput DNA sequencing technology. His laboratory is developing experimental and computational methods to characterize the genetic makeup of individual cancers and identify genomic biomarkers of drug response and resistance. As Scientific Director of Clinical NGS in the Molecular Diagnostics Service, he oversees the development and bioinformatics associated with clinical sequencing assays, and he helped lead the implementation and validation of a robust molecular profiling platform (MSK-IMPACTTM) and accompanying analytical framework for use in real-time patient management. He received his Bachelor’s Degree in Physics from Princeton University and his Ph.D. in Biophysics from Harvard University.
Wendy Chung, MD, PhD
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.
Paul Flicek, DSc
European Bioinformatics Institute EMBL-EBI
Paul Flicek is a Senior Scientist of the European Molecular Biology Laboratory and leads the Vertebrate Genomics Team at the European Bioinformatics Institute near Cambridge, England. He is head of the collection of EMBL-EBI resources focused on Genes, Genomes and Variation and in this role provides strategic leadership of the six faculty groups that together provide all of EBI’s genome annotation resources. He is currently head of the Ensembl project and has held leadership roles in data management activities for the 1000 Genomes Project, the International Human Epigenome Consortium (IHEC) and the International Mouse Phenotyping Consortium (IMPC). Paul’s research is focused on comparative regulatory genomics, the evolution of transcriptional regulation and annotation of the non-coding genome. He is also interested in the large-scale infrastructure required for modern bioinformatics including storage and access methods for high throughput sequencing data. He has played a role in a number of major international projects including ENCODE and the mouse, chicken, and various primate genome projects.
Geoffrey S Ginsburg, MD, PhD
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.
Eric D. Green, MD, PhD
National Human Genome Research Institute
Eric D. Green, M.D., Ph.D. is the Director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH), a position he has held since late 2009. NHGRI is the largest organization in the world solely dedicated to genomics research. Previously, he served as the NHGRI Scientific Director (2002-2009), Chief of the NHGRI Genome Technology Branch (1996-2009), and Director of the NIH Intramural Sequencing Center (1997-2009).
Born and raised in St. Louis, Missouri, Dr. Green received his B.S. degree in Bacteriology from the University of Wisconsin-Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. During residency training in clinical pathology (laboratory medicine), he worked in the laboratory of Dr. Maynard Olson, where he launched his career in genomics research. In 1992, he was appointed Assistant Professor of Pathology and Genetics as well as a Co-Investigator in the Human Genome Center at Washington University. In 1994, he joined the newly established Intramural Research Program of the National Center for Human Genome Research, later renamed the National Human Genome Research Institute.
While directing an independent research program for almost two decades, Dr. Green was at the forefront of efforts to map, sequence, and understand eukaryotic genomes. His work included significant, start-to-finish involvement in the Human Genome Project. These efforts eventually blossomed into a highly productive program in comparative genomics that provided important insights about genome structure, function, and evolution. His laboratory also identified and characterized several human disease genes, including those implicated in certain forms of hereditary deafness, vascular disease, and inherited peripheral neuropathy.
As Director of NHGRI, Dr. Green is responsible for providing overall leadership of the Institute’s research portfolio and other initiatives. In 2011, Dr. Green led NHGRI to the completion of a strategic planning process that yielded a new vision for the future of genomics research, entitled Charting a course for genomic medicine from base pairs to bedside (Nature 470:204-213, 2011). Since that time, he has led the Institute in broadening its research mission; this has included designing and launching a number of major programs to accelerate the application of genomics to medical care. With the rapidly expanding scope of genomics, his leadership efforts have also involved significant coordination with multiple components of the NIH, as well as other agencies and organizations.
Beyond NHGRI-specific programs, Dr. Green has also played an instrumental leadership role in the development of a number of high-profile efforts relevant to genomics, including the Smithsonian-NHGRI exhibition Genome: Unlocking Life’s Code, the NIH Big Data to Knowledge (BD2K) program, the NIH Genomic Data Sharing Policy, and the U.S. Precision Medicine Initiative.
Nationwide Children’s Hospital
I have expertise and experience in developing high throughput pipelines for DNA sequencing at large scale, having contributed in a pivotal manner to the sequencing and completion of the Human Genome Project. I am an internationally recognized expert in cancer genomics. I co-led the research team that first sequenced and analyzed a whole cancer genome using next-generation sequencing methods. My studies of cancer genomes have led to characterization of multiple pediatric and adult tumor types, to development of methods that identify and characterize changes in genomic heterogeneity, to defining acquired resistance mechanisms to targeted therapies and to designing novel, personalized vaccines for individual patients. I have an ongoing research interest in integrated characterization of cancer genomes, defining the DNA-level somatic and germline interactions that lead to cancer onset and progression. In my role as co-Executive Director of the Institute for Genomic Medicine at Nationwide Children’s Hospital, I am committed to converting the research-based knowledge of cancer genomics into optimized NGS assays with rapid transition to clinical implementation for pediatric and adult cancer patients, including the identification of therapeutic targets, resistance mechanisms and the use of different immunotherapies. In particular, I have initiated a team approach that is identifying and studying recurrent, treatment-refractory cancers in our clinics using these approaches as a component of evidence-based diagnostic medicine, seeking to better understand the genomic drivers in these cancers and to identify novel treatment approaches that target them, in hopes of obtaining durable responses.
Dr. Howard McLeod
Moffitt Cancer Center
DOE Joint Genome Institute, Lawrence Berkeley National Laboratory
heidi L. Rehm, PhD, FACMG
Harvard, Broad Institute
Heidi L. Rehm, PhD, FACMG is a board-certified clinical laboratory geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine, the Medical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women’s Hospital and Harvard Medical School. She is a 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 also aid in rare disease 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 steering committee of the Global Alliance for Genomics and Health. Rehm is also a co-investigator of the BabySeq Project exploring the clinical use of genomic sequencing as an adjunct to newborn screening, principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, and a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support.
Michael E. Talkowski, PhD
Harvard, Broad Institute
Dr. Talkowski directs a genomics research program that explores the consequences of genetic variation on human disease, particularly human developmental and neuropsychiatric disorders, as well as the application of innovations in genomics technology to clinical diagnostics. Dr. Talkowski has performed seminal studies to introduce high-resolution genomics techniques to delineate the types of genetic variation that were classically defined using cytogenetic methods, which has discovered new classes of complex genomic variation in the human genome that are remarkably common yet otherwise cryptic to conventional technologies. His laboratory has also discovered and characterized a significant number of novel genes contributing to autism and human neurodevelopmental disorders, and has recently applied whole-genome sequencing technologies and large-scale genomics datasets to prenatal detection and interpretation of structural variation in the genome.