Authors
    • Clinical Genetics (MD)
    • Clinical Director, Clinical Research Sequencing Platform at The Broad Institute
    Heidi L. Rehm, PhD, FACMG is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine (LMM), the Clinical Director of the Broad Institute Clinical Research Sequencing Platform and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Both of her clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. The LMM has been a leader in translational medicine, launching the first clinical tests for cardiomyopathy and lung cancer treatment. The LMM offers whole genome and exome sequencing services for both clinical diagnostics and to support several genomic medicine research projects including the MedSeq and BabySeq projects. Dr. Rehm is also involved in defining standards for the use of next generation sequencing in clinical diagnostics and the interpretation of sequence variants through her committee roles at the American College of Medical Genetics. She is also one of several principal investigators of a major NIH-funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and phenotype data and clinical annotations of genes and variants. Working closely with the Global Alliance for Genomics and Health she is co-leading the Matchmaker Exchange project to aid in solving rare diseases and co-chairs a subcommittee of the BRCA Challenge to support the international sharing of knowledge on BRCA variation.
    • Internal Medicine
    • Medical Genetics
    Professor of Genetics and Medicine at UNC-Chapel Hill
    Professor of Genetics and Medicine at UNC-Chapel Hill
    James P. Evans, MD, PhD, is the Bryson Distinguished Professor of Genetics and Medicine at The University of North Carolina at Chapel Hill. He directs Adult and Cancer Genetics Services and is clinically active in both Medical Genetics and General Medicine. After obtaining his MD and PhD from the University of Kansas he served as Intern, Resident and Chief Resident of Internal Medicine at The University of North Carolina in Chapel Hill and then trained in Medical Genetics at The University of Washington in Seattle. He is board certified in Internal Medicine, Medical Genetics and in Molecular Diagnostics. Dr. Evans's research interests focus primarily on the applications of next generation genomic analytic technologies in Medicine and broad issues of how genetic information is used and perceived. He has been extensively involved in policy issues both nationally and internationally. He was an advisor to the US Secretary of Health and Human Services on the subject of “Genetics, Health and Society” from 2004-2010 and has been actively involved both nationally and around the world in the education of high court judges about Genetics and scientific matters as described in the New York Times in July of 2008. In 2010 Dr. Evans testified before the US Congress regarding the regulation of genetic testing and has advised the Government Accountability Office on the same subject. In 2011 he was asked to address the US Presidential Commission on Bioethics regarding genetic testing. He has participated in numerous briefings of members of the US Congress regarding matters related to Genetics and participated as faculty and organizer of a United Nations Conference in Concepción, Chile regarding global access to advanced medical technology. Dr. Evans lives in Chapel Hill; he enjoys reading and bicycle riding in his spare time, though not simultaneously.
    Staff Scientist for ClinVar at NCBI
    Staff Scientist for ClinVar at NCBI
    Melissa J. Landrum received her PhD in human genetics from Johns Hopkins University, where she studied a viral vector for gene therapy in Garry Cutting's lab. She joined NCBI in 2000, where she provided manual gene annotation for human and other mammalian genomes as part of the RefSeq project. In 2013, she joined the medical genetics group at NCBI; she is now the scientific lead for ClinVar, a publicly available archive of variants and their relationship to disease.
    • Neurodevelopmental Disabilities
    • Medical Genetics
    • Preventive Medicine
    Precision Medicine Healthcare Executive
    Precision Medicine Healthcare Executive
    • Executive Vice President & Chief Scientific Officer at Geisinger Health System
    David H. Ledbetter, PhD, FACMG – is Executive Vice President and Chief Scientific Officer at Geisinger Health System, a large, not-for-profit integrated health system in Danville, PA. Dr. Ledbetter came to Geisinger from Emory University School of Medicine in Atlanta where he was the Robert W. Woodruff Professor and Director of the Division of Medical Genetics in the Department of Human Genetics. He previously held academic and leadership positions at the University of Chicago, the National Center for Human Genome Research (now NHGRI) at the National Institutes of Health and Baylor College of Medicine. He is a graduate of Tulane University and earned his doctorate at the University of Texas-Austin. After his early discovery of the genetic causes of Prader-Willi syndrome and then Miller-Dieker syndrome, Dr. Ledbetter has focused his research efforts on discovering the underlying etiology of childhood developmental disabilities such as autism, and the translation of new genomics technologies into clinically useful genetic tests for early diagnosis and intervention. His current research interest includes leveraging the massive amount of genomics data generated during routine patient care for knowledge generation and integration of this information into electronic health records in a clinically useful manner. Dr. Ledbetter has been a strong advocate of genomic data sharing to accelerate knowledge and improve patient care, and served as a plaintiff in the recent Supreme Court case, Association for Molecular Pathology v. Myriad Genetics (June 13, 2013), which overturned the patentability of human genes and will now allow increased access and improved quality of genetic testing in the United States.
    • Director and a Senior Investigator at Autism and Developmental Medicine Institute at Geisinger Health System
    Dr. Christa Lese Martin is currently the Director and a Senior Investigator of the Autism and Developmental Medicine Institute at Geisinger Health System. Her interests include the identification and characterization of structural variation as it relates to human disease in prenatal and postnatal settings. Her main area of research is in neurodevelopmental disorders. Dr. Martin received her Bachelor of Science degree from Penn State University and completed here PhD in Human Genetics at the University of Pittsburgh. She did her postdoctoral training at the University of Chicago in the Department of Human Genetics after which she achieved Board certification in Clinical Cytogenetics by the American Board of Medical Genetics. Before joining Geisinger, Dr. Martin was an Associate Professor in the Department of Human Genetics at Emory University. She directed Clinical Genetics laboratories while at the University of Chicago and Emory University.
    • Internal Medicine
    • Medical Genetics
    Chief of the Division of Genomic Medicine at UCSF
    Chief of the Division of Genomic Medicine at UCSF
    • Professor of Medicine at University of California, San Francisco
    Dr. Nussbaum is currently the Holly Smith Professor of Medicine and member of the Institute of Human Genetics at UCSF. At UCSF, he is Chief of the Division of Genomic Medicine, and leads both the Cancer Risk Program at the Helen Diller Family Cancer Center and the UCSF Program in Cardiovascular Genetics. He is a member of the Executive Committee of the UCSF Institute for Human Genetics and directs the recently formed Genomic Medicine Initiative at UCSF. He came to UCSF in 2006 from the Division of Intramural Research of the National Human Genome Research Institute, NIH, where he served for 12 years as Chief of the Genetic Diseases Research and Inherited Disease Research Branches. Before his time at NIH, he was a faculty member in the Department of Genetics at the University of Pennsylvania and an Attending Physician at Children’s Hospital of Philadelphia. He received his training in medicine in the Harvard-MIT Joint Program in Health Technology, his internal medicine training at Barnes Hospital/Washington University, and his Genetics training at Baylor College of Medicine. Dr. Nussbaum directed the original research that led to the discovery of mutations in -synuclein in hereditary Parkinson disease in the mid 1990’s and has been studying its role in Parkinson disease ever since. For his work on Parkinson disease, he was awarded the Klaus Joachim Zülch-Prize for Neurological Research and the Jay Van Andel Award for Outstanding Achievement in Parkinson's Disease Research. He also carried out positional cloning and characterization of the gene mutated in Lowe syndrome that led to accurate biochemical and molecular genetic testing, for which he has been recognized three times with awards from the Lowe Syndrome Association. He is the co-author of over 200 peer-reviewed publications in human genetics and co-author with Drs. Roderick M. McInnes and Huntington F. Willard of the popular textbook of human genetics, Thompson and Thompson's Genetics in Medicine. He has received numerous teaching awards from the University of Pennsylvania, the National Human Genome Research Institute and the University of California, San Francisco. Dr. Nussbaum is a Director and Treasurer of the American Board of Medical Genetics and Genomics and has served on the Board of Directors of the American College of Medical Genetics and Genomics and on the Board of the American Society of Human Genetics, where he also served as President. He was elected to the Institute of Medicine in 2004 and the American Academy of Arts and Sciences in 2015. On August 1, Dr. Nussbaum will become the Chief Medical Officer of Invitae, a genetic information company.
    • Medical Genetics
    Dr. Plon is a diplomat of the American Board of Medical Genetics in the field of Clinical Genetics. She completed her undergraduate training at MIT in chemistry and chemical engineering and then graduated from the Harvard University Medical Scientist Training Program with a PhD in biophysics. Dr. Plon completed her genetics training at the University of Washington. She joined the faculty at Baylor College of Medicine in 1993 and is currently a professor in the Departments of Pediatrics and Molecular and Human Genetics and a member of the Human Genome Sequencing Center. Dr. Plon has served on the steering committee of the Whole Genome Laboratory and Cancer Genetics Laboratory since 2011. Clinically, Dr. Plon is the founder in 1995 and chief of the Cancer Genetics Clinic in the Texas Children’s Cancer Center. Her translational research has included studying physician interpretation of genetic test results as well as laboratory research on the identification of novel childhood cancer susceptibility genes. Drs. Plon and D. William Parsons are principal investigators of the NHGRI-funded project on the incorporation of genome sequencing into the care of newly diagnosed childhood cancer patients. Dr. Plon is also one of the principal investigators of the Clinical Genomics Resource (ClinGen). She served as the chair of the NHGRI/NBCI ClinGen Executive Committee in 2014.
    • Clinical Genetics (MD)
    • Pediatrics
    CEO, American College of Medical Genetics and Genomics
    CEO, American College of Medical Genetics and Genomics
    • Adjunct Professor of Pediatrics at Washington University School of Medicine
    Michael S. Watson, PhD, FACMG, received his MS in Medical Genetics and his PhD in Physiology & Biophysics from the University of Alabama at Birmingham while focusing on human medical genetics; his postdoctoral training was in the Medical Genetics Training Program at Yale University School of Medicine where he was the Associate Director of Clinical Cytogenetics. He was director of Clinical and Molecular Cytogenetics at Washington University School of Medicine in St. Louis, Professor of Pediatrics and Genetics from 1986–2001, Director of the Medical Genetics Training Program (1996- 1999) and is certified by the American Board of Medical Genetics (ABMG) in Clinical Cytogenetics and as a PhD Medical Geneticist. He served on the Board of Directors of the American College of Medical Genetics (1992-1998) and was Vice President for Laboratory Affairs, and chaired numerous ACMG Committees. He was co-chair of the NIH/DOE Task Force on Genetic Testing from 1995 through 1997. He directed the HRSA funded project “Newborn Screening: Toward a Uniform Screening Panel and System”. He is project director of HRSA’s National Coordinating Center for Regional Genetics and Newborn Screening Collaboratives and for NIH/NICHD’s Newborn Screening Translational Research Network (NBSTRN) Coordinating Center. He is also a co-P.I. for the ClinGen Resource Project, an NIH/NHGRI funded project to clinically annotate genome variation. As of 2001, he became an Adjunct Professor of Pediatrics at Washington University School of Medicine and Executive Director of the American College of Medical Genetics and Genomics the ACMG Foundation for Genetic and Genomic Medicine.