Kenneth H. Fischbeck, M.D.

NIH Distinguished Investigator

Neurogenetics Branch

NINDS

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Building 35, Room 2A-1000
35 Convent Dr
Bethesda, MD 20892-3705

301-435-9318

kf@ninds.nih.gov

Research Topics

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. 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.

Biography

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 National Academy 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.

Selected Publications

  1. Pourshafie N, Masati E, Lopez A, Bunker E, Snyder A, Edwards NA, Winkelsas AM, Fischbeck KH, Grunseich C. Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease. Neurobiol Dis. 2022;172:105832.
  2. Winkelsas AM, Grunseich C, Harmison GG, Chwalenia K, Rinaldi C, Hammond SM, Johnson K, Bowerman M, Arya S, Talbot K, Wood MJ, Fischbeck KH. Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy. Mol Ther Nucleic Acids. 2021;23:731-742.
  3. Pourshafie N, Masati E, Bunker E, Nickolls AR, Thepmankorn P, Johnson K, Feng X, Ekins T, Grunseich C, Fischbeck KH. Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons. JCI Insight. 2020;5(13).
  4. Grunseich C, Patankar A, Amaya J, Watts JA, Li D, Ramirez P, Schindler AB, Fischbeck KH, Cheung VG. Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4. Ann Neurol. 2020;87(4):547-555.
  5. Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH, BVS857 study group.. Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial. Lancet Neurol. 2018;17(12):1043-1052.

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This page was last updated on Saturday, September 17, 2022