William A. Gahl, M.D., Ph.D.
Dr. Gahl is well-known to the HPS community. He’s cared for us for many years, overseeing the NIH’s first investigations on HPS, the natural history study of HPS and today the clinical trials underway in hopes of finding better treatments for the pulmonary fibrosis of HPS.
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.
Dr. Gahl’s lab discovered two of the eight genes known to cause HPS. Because some HPS patients have no identifiable genetic mutation, it is believed that proper vesicle formation and movement may require other genes. No treatment has been developed for the underlying disorder, but Dr. Gahl’s group has had success in slowing the development of some HPS symptoms in a small group of patients.
Recently, Dr. Gahl also launched the undiagnosed disease program at NIH, a position that has landed him on the pages of the New York Times and on the airwaves of CNN. But whatever you do, don’t call him Dr. House!