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Feb 5, 2019

When people refer to the NIH as the “National Institutes of Hope,” Dr. Bill Gahl is one of the many people who come to mind. Dr. Gahl is a medical geneticist working to help patients with rare and undiagnosed diseases. His research group focuses on inborn errors of metabolism, which include defects in the body’s biochemical processes caused by rare genetic disorders, such as cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and ciliopathies.

Transcending biomedical boundaries to take advantage of the IRP’s unique team-science environment, Dr. Gahl led the creation of the NIH’s Undiagnosed Diseases Program to provide answers and possible treatments for people with mysterious conditions that have long eluded diagnosis. Since seeing their first patient at the NIH Clinical Center in July of 2008, the Program has expanded to become the Undiagnosed Diseases Network, which now includes 12 clinical sites along with supporting scientific facilities around the country. Even when no concrete answer or cure can be found, each patient shares new information that may in the future help other people facing similar health problems, and such hope can provide powerful meaning for people’s struggles that seem to occur without reason.

William Gahl, M.D., Ph.D., is a Senior Investigator in the Medical Genetics Branch of the NIH's National Human Genome Research Institute (NHGRI). Learn more about Dr. Gahl and his research at