Prof. William A. Gahl, M.D.


[ Clinical Director of the National Human Genome Research Institute, USA ]

Gahl was the leader in creating the National Institutes of Health Undiagnosed Diseases Program (UDP). The UDP is a trans-National Institutes of Health (NIH) initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Md. The program’s success led to the creation of the Undiagnosed Diseases Network, which expands the effort to six more clinical sites at academic medical centers across the US, along with two DNA sequencing cores and a coordinating center.

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Research interests:
– Human disease gene discovery
– Rare inborn errors of metabolism through the observation and treatment of patients in the clinic
– Long-standing research interest in cystinosis, a lysosomal storage disorder caused by a mutation in the CTNS gene
– Hermansky-Pudlak syndrome (HPS), a group of vesicle formation and transport disorders characterized by albinism and bleeding
– Alkaptonuria, a condition in which mutations in the HGD gene cause a buildup of homogentisic acid (HGA), which discolors the eyes and damages the connective tissues in major joints and cardiac valves