Kenneth H. Fischbeck, M.D.

Dr. Fischbeck investigates the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular areas of research interest include the polyglutamine expansion diseases (Huntington's disease, Kennedy's disease, and spinocerebellar ataxia), spinal muscular atrophy, Charcot-Marie-Tooth disease, muscular dystrophy, hereditary motor neuron disease, and Friedreich's ataxia. The disease mechanisms are studied and potential treatments are evaluated in cell culture and other model systems. Clinical trials have been done for Duchenne muscular dystrophy, Friedreich's ataxia, and Kennedy's disease. Efforts are also currently underway to develop new treatments for spinal muscular atrophy.

Dr. Fischbeck received A.B. and A.M. degrees from Harvard University and an M.D. degree from Johns Hopkins. After a medical internship at Case Western Reserve University and a neurology residency at the University of California in San Francisco, he did postdoctoral research on muscular dystrophy at the University of Pennsylvania. In 1982 he joined the faculty in the Neurology Department at the University of Pennsylvania Medical School. In 1998 he came to the NINDS as Chief of the Neurogenetics Branch (NGB). He received the Cotzias Award from the American Academy of Neurology and the Jacoby Award from the American Neurological Association, and he was elected to the National Academy of Medicine. Dr. Fischbeck served as Branch Chief and NIH Distinguished Investigator until 2020, and continues to collaborate with his research group in the Hereditary Neurological Disease Section. They continue to work towards identifying the causes and studying the mechanisms of hereditary neurological and neuromuscular diseases with the goal of developing effective treatment for these disorders. Dr. Fischbeck became a Scientist Emeritus in 2024.