Another focus of the section involves Hermansky-Pudlak syndrome, a rare disorder of oculocutaneous albinism. Members of the section are collaborating from the National Center with investigators. Special emphasis is placed on the discovery and Alstrom syndrome on congenital hepatic fibrosis and autosomal recessive polycystic kidney disease. Dr. William A. Gahl earned B.S. from the Massachusetts Institute of Technology in biology, obtained a Ph.D. degree from Wisconsin in oncology research. Dr. Gahl has focused on the natural history of rare metabolic disorders, elucidated the basic defects in Salla disease and cystinosis, demonstrated also effective therapy for nephropathic cystinosis, has published more than 36 trained biochemical geneticists and 350 peer-reviewed papers.
Dr. Gahl established American Board of Medical Specialties certification for medical biochemical genetics, served as president of the Society, received the Dr. Nathan Davis Award for Outstanding Government Service.