Neurogenetics Branch

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.

Staff:

• Eveline Arnold, Ph.D., Postdoctoral Fellow eveline.arnold@nih.gov
• Laura Bott, Graduate Student laura.bott@nih.gov
• Katherine Bricceno, Graduate Student briccenok@od.nih.gov
• Lisa Brubaker, Postbaccalaureate IRTA lisa.brubaker@nih.gov
• Ke-lian Chen, Biologist chenk@mail.nih.gov
• Derrick Fox, M.D., Postdoctoral Fellow derrick.fox@nih.gov
• Rebecca Gibbs, Technical IRTA rebecca.gibbs@nih.gov
• Christopher Grunseich, M.D., Clinical Fellow christopher.grunseich@nih.gov
• George Harmison, Chemist harmisog@ninds.nih.gov
• Elizabeth Hartnett, Patient Care Coordinator elizabeth.hartnett@nih.gov
• Ilona Kats, Postbaccalaureate IRTA ilona.kats@nih.gov
• Angela Kokkinis, R.N., Research Nurse akokkinis@mail.nih.gov
• Xiaoyan Lin, Ph.D., Research Fellow xiaoyan.lin@nih.gov
• Ami Mankodi, M.D., Assistant Clinical Investigator ami.mankodi@nih.gov
• Jonathan Nofziger, Postbaccalaureate IRTA jonathan.nofziger@nih.gov
• Rachel Ohman, Postbaccalaureate IRTA rachel.ohman@nih.gov
• Sara Parodi, Ph.D., Visiting Fellow sara.parodi@nih.gov
• Carlo Rinaldi, M.D., Visiting Fellow carlo.rinaldi@nih.gov
• Modibo Sangare, M.D., Visiting Fellow sangarem@ninds.nih.gov
• Alice Schindler, M.S., Genetic Counselor schindlerab@ninds.nih.gov
• Rebecca Silverman, Office Manager silvermb@ninds.nih.gov

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 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
• Bricceno K, Fischbeck K, Burnett B (2012) Neurogenic and myogenic contributions to hereditary motor neuron disease, Neurodegener Dis 9, 199-209. 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
• 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

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
Email: fischbek@ninds.nih.gov