Neurogenetics Branch - Division of Intramural Research

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

Barrington Burnett, Ph.D., Research 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
Sara Parodi, Ph.D., Visiting Fellow
Carlo Rinaldi, M.D., Visiting Fellow
Modibo Sangare, 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

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
SMN copy number distribution in Mali, West Africa 10-N-N033
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

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
Bricceno K, Fischbeck K, Burnett B
Neurogenic and myogenic contributions to hereditary motor neuron disease, Neurodegener Dis, 2012, vol. 9, pp. 199-209. 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
Fernandez-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO, Shrader JA, Lehky TJ, Li L, Ryder JE, Levy EW, Solomon BI, Harris-Love MO, La Pean A, Schindler AB, Chen CJ, Di Prospero NA, Fischbeck KH
Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial, Lancet Neurol, 2011, vol. 10, pp. 140-147. 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