Neurogenetics Branch - Division of Intramural Research
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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
Barrington Burnett, Ph.D. Postdoctoral Fellow
George Harmison, Senior Research Assistant
Angela Kokkinis, R.N. Research Nurse
Alison La Pean, M.S. Genetic Counselor - -
Katherine Meilleur, M.S. Graduate Student
Eric Munoz, HHMI Scholar
Isabella Palazzolo, Ph.D. Postdoctoral Fellow
Tyler Pierson, M.D., Ph.D. Clinical Postdoctoral Fellow
Shamaine Price, Patient Coordinator
Srikanth Ranganathan, Ph.D. Postdoctoral Fellow
Lindsay Rhodes, Post baccalaureate Fellow
Modibo Sangare, M.D. Visiting Fellow
Rebecca Silverman, Office Manager
Conor Stack, Post baccalaureate Fellow
Addis Taye, Research Assistant
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. Selected Recent PublicationsMochel 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 Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich's ataxia - Arch Neurol 64 803-808 2007 Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity - Hum Molec Genet 16 1593-1603 2007 Di Prospero NA, Baker A, Jeffries N, Fischbeck KH
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial - Lancet Neurology 6 878-886 2007 Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL
A motor neuron disease-associated mutation in p150 perturbs dynactin function and induces protein aggregation - J Cell Biol 172 733-745 2006
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
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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
Barrington Burnett, Ph.D. Postdoctoral Fellow
George Harmison, Senior Research Assistant
Angela Kokkinis, R.N. Research Nurse
Alison La Pean, M.S. Genetic Counselor - -
Katherine Meilleur, M.S. Graduate Student
Eric Munoz, HHMI Scholar
Isabella Palazzolo, Ph.D. Postdoctoral Fellow
Tyler Pierson, M.D., Ph.D. Clinical Postdoctoral Fellow
Shamaine Price, Patient Coordinator
Srikanth Ranganathan, Ph.D. Postdoctoral Fellow
Lindsay Rhodes, Post baccalaureate Fellow
Modibo Sangare, M.D. Visiting Fellow
Rebecca Silverman, Office Manager
Conor Stack, Post baccalaureate Fellow
Addis Taye, Research Assistant
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. Selected Recent PublicationsMochel 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 Di Prospero NA, Sumner CJ, Penzak SR, Ravina B, Fischbeck KH, Taylor JP
Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich's ataxia - Arch Neurol 64 803-808 2007 Palazzolo I, Burnett BG, Young JE, Brenne PL, La Spada AR, Fischbeck KH, Howell BW, Pennuto M
Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity - Hum Molec Genet 16 1593-1603 2007 Di Prospero NA, Baker A, Jeffries N, Fischbeck KH
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial - Lancet Neurology 6 878-886 2007 Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL
A motor neuron disease-associated mutation in p150 perturbs dynactin function and induces protein aggregation - J Cell Biol 172 733-745 2006
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