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Neurogenetics Branch - Division of Intramural Research


Kenneth H. Fischbeck Image

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.

Laboratory Staff

Eveline Arnold, Ph.D., Postdoctoral Fellow
Emily Carifi, Ph.D., Postdoctoral Fellow
Derrick Fox, M.D., Postdoctoral Fellow
Christopher Grunseich, M.D., Clinical Fellow
Angela Kokkinis, R.N., Research Nurse
Xiaoyan Lin, Ph.D., Research Fellow
Ami Mankodi, M.D., Assistant Clinical Investigator
Carlo Rinaldi, M.D., Visiting Fellow
Alice Schindler, M.S., Genetic Counselor
Kenneth H. Fischbeck Staff Image

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
    The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein, Mol Biol Cell, 2013, vol. 24, pp. 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
    Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12, Hum Mutat, 2013, vol. 34, pp. 1357-1360. Full Text/Abstract
  • Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG
    Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice, Hum Mol Genet, 2012, vol. 21, pp. 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
    A candidate gene for autoimmune myasthenia gravis, Neurology, 2012, vol. 79, pp. 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
    Cowchock syndrome is associated with a mutation in apoptosis-inducing factor, Am J Hum Genet, 2012, vol. 91, pp. 1095-1102. Full Text/Abstract
  • Rinaldi C, Bott LC, Chen K, Harmison GG, Pennuto M, Fischbeck KH
    IGF-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy, Mol Med, 2012, vol. 18, pp. 1261-1268,. Full Text/Abstract
  • Fischbeck KH
    Developing treatment for spinal and bulbar muscular atrophy, Progr Neurobiol, 2012, vol. 99, pp. 257-261. Full Text/Abstract
  • Motley WW, Seburn KL, Nawaz MH, Miers KE, Cheng J, Antonellis A, Green ED, Talbot K, Yang XL, Fischbeck KH, Burgess RW
    Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild type GARS levels, PLoS Genet, 2011, vol. 7, pp. e1002399. Full Text/Abstract

Selected Earlier Publications


Contact Information

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)
Email: fischbek@ninds.nih.gov