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Kenneth H. Fischbeck, M.D., NIH Distinguished Investigator

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. 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 Institute of Medicine. His research group is identifying the causes and studying the mechanisms of hereditary neurological and neuromuscular diseases with the goal of developing effective treatment for these disorders.
Photo of Kenneth H. Fischbeck, M.D., NIH Distinguished Investigator

Staff Photo for Neurogenetics Branch

Research Interests:
The purpose of the Neurogenetics Branch is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. Particular 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. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. The disease mechanisms are studied and potential treatments are evaluated in cell culture and other model systems. A trial of dutasteride treatment for Kennedy's disease was recently completed, and other clinical trials for Kennedy's disease and Duchenne muscular dystrophy are in progress. Efforts are also currently underway to develop new treatments for spinal muscular atrophy.

Clinical Protocols:
  • A two-part placebo-controlled study to evaluate the safety, tolerability and preliminary efficacy of BVS857 in patients with spinal and bulbar muscular atrophy (SBMA) ( 14-N-0051 )
  • Clinical and molecular manifestations of inherited neurologic disorders ( 00-N-0043 )
  • Effect of functional exercise in patients with spinal and bulbar muscular atrophy ( 11-N-0171 )
  • Evaluation of skeletal muscle, cardiac, and diaphragm imaging bio-markers for GSK2402968 effects in ambulatory boys with Duchenne muscular dystrophy ( 11-N-0261 )

Selected Recent Publications:
  • Kwon DY, Dimitriadi M, Terzic B, Cable C, Hart AC, Chitnis A, Fischbeck KH, Burnett BG (2013) The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein, Mol Biol Cell 24, 1863-1871. Full Text/Abstract

  • Landoure G, Zhu PP, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez M, Speziani F, Durr A, Stevanin G, Biesecker LG, Accardi J, Landis DMD, Gahl WA, Traynor BJ, Marques W, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG (2013) Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12, Hum Mutat 34, 1357-1360. Full Text/Abstract

  • Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG (2012) Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice, Hum Mol Genet 21, 4448-4459. Full Text/Abstract

  • Landoure G, Knight MA, Stanescu H, Taye AA, Shi Y, Diallo O, Johnson JO, Hernandez D, Traynor BJ, Biesecker LG, Elkahoun A, Rinaldi C, Vincent A, Willcox N, Kleta R, Fischbeck KH, Burnett BG (2012) A candidate gene for autoimmune myasthenia gravis, Neurology 79, 342-345. Full Text/Abstract

  • Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Biesecker L, Ghezzi D, Zeviani M, Fischbeck KH (2012) Cowchock syndrome is associated with a mutation in apoptosis-inducing factor, Am J Hum Genet 91, 1095-1102. Full Text/Abstract

  • Fischbeck KH (2012) Developing treatment for spinal and bulbar muscular atrophy, Progr Neurobiol 99, 257-261. Full Text/Abstract

  • Rinaldi C, Bott LC, Chen K, Harmison GG, Pennuto M, Fischbeck KH (2012) IGF-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy, Mol Med 18, 1261-1268, . Full Text/Abstract

All Selected Publications

Contact Information:

Dr. Kenneth H. Fischbeck
Neurogenetics Branch, NINDS
Porter Neuroscience Research Center
Building 35, Room 2A-1000
35 Convent Drive, MSC 3705
Bethesda, MD 20892-3705

Telephone: (301) 435-9318 (office), (301) 435-9288 (laboratory), (301) 480-3365 (fax)


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