Neurogenetics Branch - Division of Intramural Research

 Kenneth H.  Fischbeck  M.D., Senior 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 was elected to the Institute of Medicine of the National Academy of Sciences. His laboratory is studying the mechanisms of hereditary neurological and neuromuscular disorders, particularly the polyglutamine expansion neurodegenerative diseases.

Laboratory Staff

Katherine Bricceno, , Graduate Student
Barrington Burnett, Ph.D., Postdoctoral Fellow
George Harmison, , Senior Research Assistant
Angela Kokkinis, R.N., Research Nurse
Deborah Kwon, , Graduate Student
Michael Mooney, , Postbaccalaureate IRTA
William Motley, , Graduate Student
Isabella Palazzolo, Ph.D., Postdoctoral Fellow
Tyler Pierson, M.D., Ph.D., Clinical Postdoctoral Fellow
Shamaine Price, , Patient Coordinator
Lindsay Rhodes, , Post baccalaureate Fellow
Modibo Sangare, M.D., Visiting Fellow
Alice Schindler, M.S., Genetic Counselor
Rebecca Silverman, , Office Manager
Addis Taye, , Research Assistant
Charlotte Watts, , Postbaccalaureate IRTA
Michelle White, , Student

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. The disease mechanisms are studied in cell culture and other model systems. A genetic outreach program is intended to identify and characterize patients and families with hereditary neurological diseases. Trials of idebenone treatment for Friedreich's ataxia and dutasteride treatment for Kennedy's disease were recently completed. Efforts are also underway to develop new treatments for spinal muscular atrophy and muscular dystrophy.

Clinical Protocols

Clinical and molecular manifestations of inherited neurologic disorders  00-N-0043

Selected Recent Publications

Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KH
Mitochondrial abnormalities in spinal and bulbar muscular atrophy - Hum Molec Genet  18 27-42 2009

Burnett BG, Munoz E, Tandon A, Kwon D, Sumner CJ, Fischbeck KH
Regulation of SMN protein stability - Mol Cell Biol  29 1107-1115 2009

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJM, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20 - Hum Molec Genet  17 3847-3853 2008

Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA
Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics - Neurobiol Disease  30 365-374 2008

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance - Am J Hum Genet  82 652-660 2008

Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, DiProspero NA, Pellizoni L, Fischbeck KH, Sumner CJ
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy - J Clin Invest   117 659-671 2007

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