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Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… the national institutes of health (nih) undiagnosed diseases program (udp) is part of the undiagnosed disease network …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases , experts from the udn turned to reddit - a social … anything" (ama). … clinical and research experts from the undiagnosed diseases network (udn) have joined forces to … clinical director and head of the undiagnosed diseases program ( udp ), cyndi tifft, m.d., ph.d., nhgri's deputy …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… … researchers with the national institutes of health  undiagnosed disease program (udp ) have developed a powerful new toolset for … genes. … the udp is part of the  undiagnosed diseases network , which brings together clinical and …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… efforts to diagnose and treat individuals with rare and undiagnosed diseases . … the department of health and human services … national institutes of health (nih) undiagnosed diseases program ( udp ) in 2008. the aim of the udp is both simple …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… has given dozens of lectures about helping patients with undiagnosed diseases , work he began with the undiagnosed diseases program in 2008. … but when he gave the honorary samuel …
Staff
Dr. William A. Gahl is the Clinical Director for the National Human Genome Research Institute and the director of the NIH Undiagnosed Diseases Program.
… at the nih's interinstitute medical genetics training program, which he directed from 1989 to 1994. dr. gahl's … rare metabolic disorders and the discovery of new genetic diseases. he elucidated the basic defects in cystinosis and … section investigators are also heavily engaged in the nih undiagnosed diseases program ( udp ), an initiative that dr. …
Staff
Cynthia Tifft, M.D., Ph.D. is the deputy clinical director for the National Human Genome Research Institute.
… clinical director, where she also directs the pediatric undiagnosed diseases program. dr. tifft's clinical and research interests for many …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases . several nhgri staff members - anastasia l. wise, … ph.d., nhgri clinical director and director of the nih undiagnosed diseases program ( udp ), offered other examples of rare disease …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… sequencing of the  gne  gene. gne myopathy patients may go undiagnosed for many years. there are ~2,000 patients known … intramural research training award  (post-bac irta) program . we also have opportunities for an  intramural … william a. gahl, m.d., ph.d. director, nih undiagnosed diseases program gahlw@helix.nih.gov dr. gahl's laboratory …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… since 2008, the ocd has hosted the intramural nih undiagnosed diseases program ( udp ), now part of the common fund's undiagnosed