| |
| |
| 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.
|
|
Staff:
- Katherine Bricceno, Graduate Student briccenok@od.nih.gov
- Barrington Burnett, Ph.D., Postdoctoral Fellow burnettb@ninds.nih.gov
- Casey Cable, HHMI Scholar casey.cable@nih.gov
- Ke-lian Chen, Biologist chenk@mail.nih.gov
- Katherine Gribble, Postbaccalaureate IRTA gribblekd@ninds.nih.gov
- George Harmison, Chemist harmisog@ninds.nih.gov
- Angela Kokkinis, R.N., Research Nurse akokkinis@mail.nih.gov
- Deborah Kwon, Graduate Student kwondeb@od.nih.gov
- Guida Landoure, M.D., Contractor landoureg@ninds.nih.gov
- Ami Mankodi, M.D., Senior Clinical Fellow ami.mankodi@nih.gov
- William Motley, Graduate Student motleyw@od.nih.gov
- Tyler Pierson, M.D., Ph.D., Staff Clinician piersonty@ninds.nih.gov
- Shamaine Price, Patient Coordinator pricesh@ninds.nih.gov
- Modibo Sangare, M.D., Visiting Fellow sangarem@ninds.nih.gov
- Alice Schindler, M.S., Genetic Counselor schindlerab@ninds.nih.gov
- Yijun Shi, Biologist shiy@mail.nih.gov
- Rebecca Silverman, Office Manager silvermb@ninds.nih.gov
- Addis Taye, Technician tayea@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, 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 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 (2009) Mitochondrial abnormalities in spinal and bulbar muscular atrophy, Hum Molec Genet 18, 27-42.
Full Text/Abstract
Burnett BG, Munoz E, Tandon A, Kwon D, Sumner CJ, Fischbeck KH (2009) Regulation of SMN protein stability, Mol Cell Biol 29, 1107-1115.
Full Text/Abstract
Palazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, Pennuto M (2009) Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy, Neuron 63, 316-328.
Full Text/Abstract
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 (2008) A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20, Hum Molec Genet 17, 3847-3853.
Full Text/Abstract
Burnett BG, Andrews J, Ranganathan S, Fischbeck KH, Di Prospero NA (2008) Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics, Neurobiol Disease 30, 365-374.
Full Text/Abstract
Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG (2008) Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance, Am J Hum Genet 82, 652-660.
Full Text/Abstract
Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, DiProspero NA, Pellizoni L, Fischbeck KH, Sumner CJ (2007) Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy, J Clin Invest 117, 659-671.
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
|
|
