Kenneth Fischbeck, M.D. Adjunct Investigator National Human Genome Research Institute Senior Investigator Neurogenetics Branch, NINDS A.B. Harvard University, 1972 A.M. Harvard University, 1972 M.D. Johns Hopkins University, 1976 (301) 435-9318 (301) 480-3365 fischbek@ninds.nih.gov Building 35, Room 2A1000 35 Convent Dr, MSC 3705 Bethesda, MD 20892-3705 Selected Publications

As part of the National Institute of Neurological Disorders and Stroke (NINDS), Dr. Fischbeck's laboratory is studying the mechanisms of hereditary neurological and neuromuscular disorders, particularly the polyglutamine expansion neurodegenerative diseases. His laboratory, in the Neurogenetics Branch of NINDS, investigates the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Areas of research interest in the Fischbeck lab 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 in cell culture and other model systems.

A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. A trial of idebenone treatment for Friedreich's ataxia was completed recently, and a trial of anti-androgen treatment for Kennedy's disease (spinal and bulbar muscular atrophy) is currently in progress. Efforts are underway to develop new treatments for spinal muscular atrophy and muscular dystrophy.

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Last Reviewed: December 8, 2008