Dr. Fischbeck studies the mechanisms of hereditary neurological and neuromuscular disorders, with the goal of developing effective treatments for these conditions. His laboratory's areas of research 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. His laboratory studies the disease mechanisms of these conditions in cell culture and model systems. In addition, Dr. Fischbeck directs a genetic outreach program intended to identify and characterize patients and families with hereditary neurological diseases. His group has conducted a clinical trial of gentamicin treatment in patients with muscular dystrophy, and a trial of idebenone treatment for Friedreich's ataxia is ongoing. Efforts also are under way to develop new treatments for spinal muscular atrophy, muscular dystrophy, and the polyglutamine expansion diseases.
Last Updated: July 17, 2012