Search Results
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… (1-844-746-4836) … 2020 May 11, 2020: Bill Gahl receives HHS award 2019 September 19, 2019: Undiagnosed … The medical detective Federal News Radio August 17, 2011: William A. Gahl, NIH medical sleuth, tackles mysterious … CBS WUSA9News Dec. 5, 2010: Power Player of the Week: Dr. William Gahl FoxNews National Dec. 13, 2010: Local Team …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… at the NIH in 2004 and stayed on in the lab of Dr. William Gahl to work on rare heritable and metabolic disorders. He … ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Free sialic acid storage disorder: …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… disorders like dementia with Lewy bodies," she said. William A. Gahl, M.D., Ph.D., NHGRI clinical director and director of … contribute to the study of common diseases. In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference …
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl (NHGRI's Clinical Director); Dr. John Gallin (then … the aim of diagnosing their rare ailments. NHGRI's Dr. William Gahl and his team continue to run the NIH UDP as one …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… S, Bayman L, Coffey CS, Quintana M, Berry SM, Huizing M, Gahl WA. Oral N-acetylmannosamine (ManNAc) rescues the basic … M, Xu X, Zhang M, Shi Y, Gu G, Liu W, Class B, Ciccone C, Gahl WA, Huizing M, Carrillo N, Wang AQ. Quantitation of … student in Dr. Nishino's laboratory (Tokyo, Japan). William A. Gahl, M.D., Ph.D. Director, NIH Undiagnosed …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… M.D. Skeletal dysplasias, inborn errors of metabolism William A. Gahl, M.D., Ph.D. Inborn Errors of Metabolism, cystinosis, …
The Genomics Landscape
In the November 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program.
… from the past month, two NHGRI Intramural investigators, William Gahl and Charles Rotimi, were elected  into the National …
Summit
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics.
… Dan Kastner, M.D., Ph.D. , Scientific Director, NHGRI William Gahl, M.D., Ph.D. , Head, Undiagnosed Disease Program and …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… Clinical Center. Among the featured researchers are Bill Gahl, M.D., Ph.D., David Adams, M.D., Ph.D., and Cyndi Tifft, …
Virtual Exhibit
The completion of the Human Genome Project in 2003 and subsequent boom in the genomics field has had a profound impact not just on biology and medicine but also on ethics and society. The project also changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
… Kentucky professor, Mary Sue Coleman, Ph.D., addressed to William Raub, Ph.D., the acting director of the NIH at the … of the University of Massachusetts Medical School, sent to William Raub, Ph.D. The header is taken from the sentence: … across the U.S. sent letters to then acting NIH Director, William Raub, Ph.D., each laying out a variety of arguments …