UDN Telebriefing Spokespeople
Undiagnosed Diseases Network Telebriefing, July 1, 2014
James M. Anderson, M.D., Ph. D.
, was appointed director of the NIH Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI) in September 2010.The NIH Division of Program Coordination, Planning, and Strategic Initiatives' mission includes identifying emerging scientific opportunities, rising public health challenges, and scientific knowledge gaps that merit further research. The Division plans and implements trans-NIH initiatives supported by the Common Fund and coordinates research related to AIDS, behavioral and social sciences, women's health, and disease prevention. Dr. Anderson is currently Professor and Chair of the Department of Cell and Molecular Physiology in the School of Medicine at the University of North Carolina at Chapel Hill, a position he has held since 2002. Before his appointment at Chapel Hill, he was Professor of Medicine and Cell Biology and Chief, Section of Digestive Diseases, at the Yale School of Medicine. Dr. Anderson has extensive clinical experience in both Internal Medicine and Hepatology, and he is considered among the top authorities in the world in his primary research field of tight junctions and paracellular transport. He has been a principal investigator on NIH grants for almost twenty years. To learn more about Dr. Anderson, see: James Anderson, M.D., Ph.D.
59, performs data entry for a company in Brodhead, Ky. She is married and has a 32-year-old son, two step-children, and a granddaughter. Cystic fibrosis claimed the life of her daughter at age 15 in 1999. Louise and her four siblings have arterial calcification due to deficiency of CD73 (ACDC), a rare genetic disorder that is explained for the first time in the Feb. 3. 2010 issue of the New England Journal of Medicine
by doctors at the National Institutes of Health (NIH). ACDC is caused by a gene defect that permits calcium to build up in arteries below the waist and in the hands. For Louise and her siblings, the condition blocks blood flow and makes walking and other movements painful and difficult. Fortunately, this calcification spares the coronary arteries. To learn more about Louise Benge, see: www.genome.gov/27543157/udp-patient-biographies/
For additional photos of Louise Benge and ACDC, see: http://www.genome.gov/dmd/index.cfm?node=Photos/Events/UDP
William A. Gahl, M.D., Ph.D.
, is the NHGRI clinical director, senior investigator of the NHGRI's Medical Genetics Branch and director of the NIH Undiagnosed Diseases Program. Dr. Gahl studies rare inborn errors of metabolism through the observation and treatment of patients in the clinic and through biochemical, molecular biological and cell biological investigations in the laboratory. His group focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria and sialic acid diseases. He received an M.D. and a Ph.D. in oncology from the University of Wisconsin School of Medicine. For more on Dr. Gahl's research, see: www.genome.gov/Staff/Gahl
Eric D. Green, M.D., Ph.D.
, is the director of NHGRI, a position he has held since 2009. NHGRI, part of NIH, is the largest organization in the world solely dedicated to genomics research. Dr. Green 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. 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). For more about Dr. Green, see: www.genome.gov/27535200/director-eric-d-green-md-phd/
Jeannine Mjoseth (Moderator)
is the Acting Chief of Communications for NHGRI, helping to ensure smooth operations within NHGRI's Communications and Public Liaison Branch. From writing and editing news releases and website features, to shooting video and implementing social media outreach, Ms. Mjoseth hunts for opportunities to highlight NHGRI's cutting edge science and scientists. She exercises editorial skills developed over a 20-year health care journalism career covering federal legislation and regulation (Faulkner & Gray), the law (Bureau of National Affairs) and information technology (Aspen Publishers). This is Ms. Mjoseth's second posting with the National Institutes of Health: from 2000 to 2007, she provided media outreach at the National Institute on Aging (NIA). While at NIA, she developed the Vital Visionaries
, a highly successful arts-based program that reduced aging stereotypes among participating medical students and older people. For more about Ms. Mjoseth, please visit: www.genome.gov/Staff/Myoseth
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. To learn more about Dr. Wise, please visit: www.genome.gov/Staff/Wise
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Posted: July 1, 2014