Genomic Sequencing and Newborn Screening Telebriefing Participant Bios
Genomic Sequencing and Newborn Screening and Telebriefing, September 4, 2013 Eric D. Green, M.D., Ph.D.
, is the director of NHGRI, a position he has held since late 2009. NHGRI, part of NIH, 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). 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, including significant, start-to-finish involvement in the Human Genome Project. Now, as director of NHGRI, Dr. Green is responsible for providing overall leadership of the Institute's research portfolio and other initiatives. This requires significant coordination with other NIH components and funding agencies. Most recently, 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
, 470:204-213. 2011.)
Alan E. Guttmacher, M.D.
, is the director of the Eunice Kennedy Shriver
National Institute of Child Health and Human Development, the focal point at the National Institutes of Health (NIH) for research in pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine, among other areas. A pediatrician and medical geneticist, Dr. Guttmacher came to NIH in 1999 to work at the National Human Genome Research Institute (NHGRI), where he served in a number of roles, including deputy director and acting director, thus overseeing that institute's efforts to advance genome research, integrate that research into health care, and explore the ethical, legal, and social implications of human genomics. Among Dr. Guttmacher's areas of expertise are the development of new approaches for translating genomics into better ways of diagnosing, treating and preventing disease. A major research interest has been the disease hereditary hemorrhagic telangiectasia. A graduate of Harvard College and Harvard Medical School, Dr. Guttmacher completed an internship and residency in pediatrics and a fellowship in Medical Genetics at Harvard and Children's Hospital of Boston. He is a member of the Institute of Medicine.
Anastasia L. Wise, Ph.D.,
is a program director in the Division of Genomic Medicine at NHGRI. She received her Ph.D. in genetics and genomics from Duke University and at NHGRI serves as program director for programs advancing the application of genomics to medical science and clinical care. Dr. Wise serves as co-coordinator for the NIH Common Fund's Undiagnosed Diseases Network, which aims to increase the capacity for and use of genomic data in the diagnosis and management of rare and new diseases. She is also a project scientist for the Genomic Sequencing and Newborn Screening Disorders initiative, which aims to explore the potential for genomic sequencing to expand and improve newborn health care. Her other research interests include gene-environment interactions in complex disease, pharmaco/toxicogenomics, and ethical, legal, and social issues related to the use of genetic information.
Tiina Urv, Ph.D.,
is a health science administrator in the Intellectual and Developmental Disabilities (IDD) Branch of NICHD. Dr. Urv is a developmental disabilities specialist with a Ph.D. from Columbia University and 25 years of experience working with individuals with intellectual disabilities in both clinical and research settings. Prior to joining the Branch, she was an assistant professor at University of Massachusetts Medical School's Eunice Kennedy Shriver Center and a research scientist at the New York State Institute for Basic Research in Developmental Disabilities. The focus of her work has been the behavioral aspect of aging and Alzheimer disease in adults with Down syndrome and developmental disabilities. Dr. Urv's work in the IDD Branch focuses on behavioral, biobehavioral, and social sciences research with a primary focus on Fragile X syndrome (FXS). Dr. Urv serves as the chair for the NIH FXS Research Coordinating Group, which developed the Research Plan on FXS and Associated Disorders
. She also serves as coordinator for the research program in newborn screening and manages a diverse portfolio of grants for the IDD Branch related to these efforts.