Kenneth H. Fischbeck, M.D.
NIH Distinguished Investigator
Building 35, Room 2A-1000
35 Convent Dr
Bethesda, MD 20892-3705
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.
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.
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).
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.
Grunseich C, Wang IX, Watts JA, Burdick JT, Guber RD, Zhu Z, Bruzel A, Lanman T, Chen K, Schindler AB, Edwards N, Ray-Chaudhury A, Yao J, Lehky T, Piszczek G, Crain B, Fischbeck KH, Cheung VG. Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters. Mol Cell. 2018;69(3):426-437.e7.
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.
Related Scientific Focus Areas
Genetics and Genomics
This page was last updated on August 26th, 2021