Kenneth H.
Fischbeck M.D., Senior InvestigatorDr. 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 StaffKatherine Bricceno, , Graduate Student
Barrington Burnett, Ph.D., Postdoctoral Fellow
Casey Cable, , HHMI Scholar
Ke-lian Chen, , Biologist
Katherine Gribble, , Postbaccalaureate IRTA
George Harmison, , Chemist
Angela Kokkinis, R.N., Research Nurse
Deborah Kwon, , Graduate Student
Guida Landoure, M.D., Contractor
Ami Mankodi, M.D., Senior Clinical Fellow
William Motley, , Graduate Student
Tyler Pierson, M.D., Ph.D., Staff Clinician
Shamaine Price, , Patient Coordinator
Modibo Sangare, M.D., Visiting Fellow
Alice Schindler, M.S., Genetic Counselor
Yijun Shi, , Biologist
Rebecca Silverman, , Office Manager
Addis Taye, , Technician
Research InterestsThe 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, Friedreich's ataxia, and lysosomal storage
diseases. 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 currently underway
to develop new treatments for spinal muscular atrophy and lysosomal storage disease.
Clinical ProtocolsClinical and molecular manifestations of inherited neurologic disorders 00-N-0043
Selected Recent PublicationsPalazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto MOverexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy - Neuron
63 316-328 2009
Ranganathan S, Harmison GG, Meyertholen K, Pennuto M, Burnett BG, Fischbeck KHMitochondrial 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 KHRegulation 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 ABA 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 NAExpression 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
RGSplice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance - Am J Hum Genet
82 652-660 2008
Selected Earlier Publications
Contact InformationNeurogenetics 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