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Neurogenetics Branch
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
- George Harmison, Senior Research Assistant harmisog@ninds.nih.gov
- Angela Kokkinis, R.N., Research Nurse akokkinis@mail.nih.gov
- Deborah Kwon, Graduate Student kwondeb@od.nih.gov
- Michael Mooney, Postbaccalaureate IRTA mooneyma@ninds.nih.gov
- William Motley, Graduate Student motleyw@od.nih.gov
- Isabella Palazzolo, Ph.D., Postdoctoral Fellow palazzoloi@ninds.nih.gov
- Tyler Pierson, M.D., Ph.D., Clinical Postdoctoral Fellow piersonty@ninds.nih.gov
- Shamaine Price, Patient Coordinator pricesh@ninds.nih.gov
- Lindsay Rhodes, Post baccalaureate Fellow rhodesli@ninds.nih.gov
- Modibo Sangare, M.D., Visiting Fellow sangarem@ninds.nih.gov
- Alice Schindler, Genetic Counselor schindlerab@ninds.nih.gov
- Rebecca Silverman, Office Manager silvermb@ninds.nih.gov
- Addis Taye, Research Assistant tayea@ninds.nih.gov
- Charlotte Watts, Postbaccalaureate IRTA wattscha@ninds.nih.gov
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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. A trial of idebenone treatment for Friedreich's ataxia was recently completed, and a trial of dutasteride treatment for Kennedy's disease is currently in progress. 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
- Phase 2 clinical trial to examine the efficacy and safety of dutasteride in patients with Kennedy's disease (spinal and bulbar muscular atrophy) 06-N-0113
Selected 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
- 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
- Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M (2007) Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity, Hum Molec Genet 16, 1593-1603. Full Text/Abstract
- Di Prospero NA, Baker A, Jeffries N, Fischbeck KH (2007) Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial, Lancet Neurology 6, 878-886. 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
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