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Developmental and Metabolic Neurology Branch - Division of Intramural Research
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Roscoe O. Brady M.D., Senior Investigator
Dr. Brady attended the Pennsylvania State University and received an M.D. degree from Harvard Medical School. After interning at the Hospital of the University of Pennsylvania, he was a post-doctoral fellow in the Department of Physiological Chemistry at the University of Pennsylvania School of Medicine and a fellow in clinical medicine in the Department of Medicine. Following two and one-half years on active duty in the U.S. Naval Medical Corps, he joined the National Institutes of Health where he is now Chief of the Developmental and Metabolic Neurology Branch. He received the Gairdner International Award, the Cotzias Award from the American Academy of Neurology, the Pasano Foundation Award, the Lasker Foundation Clinical Medical Research Award, and the Kovalenko Medal from the National Academy of Sciences USA. He is a member of the National Academy of Sciences, USA and a member of the Institute of Medicine of the National Academy of Sciences. Dr. Brady's Branch investigates the enzymatic and molecular bases of hereditary neurometabolic disorders and develops therapies for patients with these conditions.
Laboratory Staff
Hasan Askari, M.D. Clinical Fellow 301-402- 1931
William Benko, M.D. Clinical Fellow 301-496- 2770
Camille Butler, Secretary 301-496- 3287
Adele Cooney, B.S. Research Assistant 301-594- 6567
Ehud Goldin, Ph.D. Senior Research Fellow 301-594- 3133
Cheryl Hipple, Patient Coordinator 301-496- 5968
Christine Kaneski, M.Sc Research Assistant 301-594- 3196
Stephanie Kluepfal-Stahl, 301-594- 6564
Zhennan Lai, Ph.D. Research Fellow 301-594- 3136
Kyun Lee, Ph.D. Research Fellow 301-594- 3129
Nga Luu, B.S. Research Assistant 301-451- 4275
Gary Murray, Ph.D. Staff Scientist 301-594- 6018
Katharine Oliver, M.Sc Research Assistant 301-594- 6015
Jane Quirk, M.Sc Research Assistant 301-594- 3129
Markus Ries, M.D. Clinical Fellow 301-496- 1223
Chevalia Robinson, R.N. Nurse 301-496- 1466
Raphael Schiffmann, M.D. Staff Clinician 301-496- 5699
Margaret Timmons, M.D. Clinical Fellow 301-402- 1932
Gregory Zirzow, B.S. Research Assistant 301-435- 5176
Research Interests
The Branch is concerned with the discovery of the etiology and development of genetic counseling methods and therapy for patients with neurometabolic disorders. Among these conditions are Gaucher disease, Niemann-Pick disease, Fabry disease and Tay-Sachs disease. We have developed highly effective enzyme replacement therapy for Gaucher disease and for Fabry disease. We are exploring methods to deliver therapeutic enzymes to the brain of patients in whom the central nervous system is involved. We are examining gene therapy for Gaucher disease and Fabry disease. We have developed a knock-out mouse analog of Fabry disease that has been extraordinarily useful for these trials. We identified the gene that is mutated in the neurogenetic disorder Type C Niemann-Pick disease. We are investigating the causes and the nature of mutated genes in other neurogenetic conditions including Mucolipidosis 4, leukodystrophies of unknown etiology, and novel forms of peripheral neuropathies. We identified two previously unrecognized neurological syndromes known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH) and ovarioleukodystrophy. Additional previously un-characterized neurological syndromes are currently under investigation. We are developing novel techniques to determine the effects of enzyme and gene therapy on the brain of patients with inherited disorders of metabolism. Selected Recent PublicationsRies M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R
Pediatric Fabry disease - Pediatrics, Electronic Pages 2005 Goldin E, Stahl S, Cooney A, Kaneski C, Gupta S, Brady RO, Ellis JR, Schiffmann R
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of Mucolipidosis IV - Human Mutation 24 460-465 2004 Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A Colegial C, Allman JM, Schiffmann R
Neuropathology provides clues to the pathophysiology of Gaucher disease - Mol. Genet. Metab. 82 192-207 2004 Park J, Murray GJ, Limaye A, Quirk JM, Glederman MP, Brady RO, Qasba P
Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. - Proc Nat Acad Sci USA 100 3450-3454 2003 Brady, RO
Enzyme replacement therapy: conception, chaos and culmination Philosophical Transactions of the Royal Society - Biological Sciences 358 915-919 2003
Contact Information
Developmental and Metabolic Neurology Branch, NINDS Building 10, Room 3D04 10 Center Drive, MSC 1260 Bethesda MD 20892-1260
Telephone: 301-496- 3285 (office), 301- 496-3286 (laboratory), 301-496- 9480 (fax), Email: bradyr@ninds.nih.gov
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Roscoe O. Brady M.D., Senior Investigator
Dr. Brady attended the Pennsylvania State University and received an M.D. degree from Harvard Medical School. After interning at the Hospital of the University of Pennsylvania, he was a post-doctoral fellow in the Department of Physiological Chemistry at the University of Pennsylvania School of Medicine and a fellow in clinical medicine in the Department of Medicine. Following two and one-half years on active duty in the U.S. Naval Medical Corps, he joined the National Institutes of Health where he is now Chief of the Developmental and Metabolic Neurology Branch. He received the Gairdner International Award, the Cotzias Award from the American Academy of Neurology, the Pasano Foundation Award, the Lasker Foundation Clinical Medical Research Award, and the Kovalenko Medal from the National Academy of Sciences USA. He is a member of the National Academy of Sciences, USA and a member of the Institute of Medicine of the National Academy of Sciences. Dr. Brady's Branch investigates the enzymatic and molecular bases of hereditary neurometabolic disorders and develops therapies for patients with these conditions.
Laboratory Staff
Hasan Askari, M.D. Clinical Fellow 301-402- 1931
William Benko, M.D. Clinical Fellow 301-496- 2770
Camille Butler, Secretary 301-496- 3287
Adele Cooney, B.S. Research Assistant 301-594- 6567
Ehud Goldin, Ph.D. Senior Research Fellow 301-594- 3133
Cheryl Hipple, Patient Coordinator 301-496- 5968
Christine Kaneski, M.Sc Research Assistant 301-594- 3196
Stephanie Kluepfal-Stahl, 301-594- 6564
Zhennan Lai, Ph.D. Research Fellow 301-594- 3136
Kyun Lee, Ph.D. Research Fellow 301-594- 3129
Nga Luu, B.S. Research Assistant 301-451- 4275
Gary Murray, Ph.D. Staff Scientist 301-594- 6018
Katharine Oliver, M.Sc Research Assistant 301-594- 6015
Jane Quirk, M.Sc Research Assistant 301-594- 3129
Markus Ries, M.D. Clinical Fellow 301-496- 1223
Chevalia Robinson, R.N. Nurse 301-496- 1466
Raphael Schiffmann, M.D. Staff Clinician 301-496- 5699
Margaret Timmons, M.D. Clinical Fellow 301-402- 1932
Gregory Zirzow, B.S. Research Assistant 301-435- 5176
Research Interests
The Branch is concerned with the discovery of the etiology and development of genetic counseling methods and therapy for patients with neurometabolic disorders. Among these conditions are Gaucher disease, Niemann-Pick disease, Fabry disease and Tay-Sachs disease. We have developed highly effective enzyme replacement therapy for Gaucher disease and for Fabry disease. We are exploring methods to deliver therapeutic enzymes to the brain of patients in whom the central nervous system is involved. We are examining gene therapy for Gaucher disease and Fabry disease. We have developed a knock-out mouse analog of Fabry disease that has been extraordinarily useful for these trials. We identified the gene that is mutated in the neurogenetic disorder Type C Niemann-Pick disease. We are investigating the causes and the nature of mutated genes in other neurogenetic conditions including Mucolipidosis 4, leukodystrophies of unknown etiology, and novel forms of peripheral neuropathies. We identified two previously unrecognized neurological syndromes known as Childhood Ataxia with Central Nervous System Hypomyelination (CACH) and ovarioleukodystrophy. Additional previously un-characterized neurological syndromes are currently under investigation. We are developing novel techniques to determine the effects of enzyme and gene therapy on the brain of patients with inherited disorders of metabolism. Selected Recent PublicationsRies M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R
Pediatric Fabry disease - Pediatrics, Electronic Pages 2005 Goldin E, Stahl S, Cooney A, Kaneski C, Gupta S, Brady RO, Ellis JR, Schiffmann R
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of Mucolipidosis IV - Human Mutation 24 460-465 2004 Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, Wakefield LK, Morrison A, Lwin A Colegial C, Allman JM, Schiffmann R
Neuropathology provides clues to the pathophysiology of Gaucher disease - Mol. Genet. Metab. 82 192-207 2004 Park J, Murray GJ, Limaye A, Quirk JM, Glederman MP, Brady RO, Qasba P
Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. - Proc Nat Acad Sci USA 100 3450-3454 2003 Brady, RO
Enzyme replacement therapy: conception, chaos and culmination Philosophical Transactions of the Royal Society - Biological Sciences 358 915-919 2003
Contact Information
Developmental and Metabolic Neurology Branch, NINDS Building 10, Room 3D04 10 Center Drive, MSC 1260 Bethesda MD 20892-1260
Telephone: 301-496- 3285 (office), 301- 496-3286 (laboratory), 301-496- 9480 (fax), Email: bradyr@ninds.nih.gov