Research
Emphasis Areas

Major Research Domains

Research Affiliates

Core Services
  Behavioral
  Science Core

  Genetics Core

  Infant Primate
  Research
  Laboratory

  Instrument
  Development
  Laboratory

  Neuroscience Core

Research Emphasis Area on Neurodegenerative Disorders

Coordinator: Thomas Bird, M.D.

The Research Emphasis Area on Neurodegenerative Disorders has four major areas of interest:

• The first is to characterize the clinical, laboratory, and pathological phenotypes of the various disorders included in this category. Representative disorders involving the central nervous system include Alzheimer's Disease, Frontal Temporal Dementia, Huntington's Disease, Cerebellar Ataxias, ALS, and Hereditary Spastic Paraplegias. Disorders involving the peripheral nervous system include the Charcot-Marie Tooth Hereditary Neuropathies and the many forms of Muscular Dystrophy. The careful clinical characterization of these disorders will allow more accurate and efficient gene identification and will lead to useful genotype/phenotype correlations.
• The second focus is on identifying and cloning genes directly causing or functioning as risk factors for these disorders. The scientific approaches include genetic linkage analysis, screening of candidate genes, and positional cloning. This group of investigators has had important successes in this field including identifying the genes causing Alzheimer's Disease, Frontal Temporal Dementia, Hereditary Neuropathy, Parkinson's disease, and Hereditary Ataxia.
• The third focus is to better understand basic mechanisms underlying the biochemical and molecular pathogenesis of these disorders. Experimental approaches include the use of transgenic mice, Drosophila, and C. elegans. The neuronal degeneration association with the trinucleotide repeat expansion disorders is of special interest.
• Finally, successful approaches to treatment and prevention are an important long range focus. These approaches include strategies for preventing intraneuronal protein aggregation and for delivering normal genes or proteins to distant tissue such as muscle cells.

Faculty Investigators

• Thomas Bird, M.D., Professor, Medicine, Neurology and Medical Genetics, Coordinator
• Elizabeth Aylward, Ph.D., Professor, Radiology
• Craig Bennett, Ph.D., Research Assistant Professor, Pediatrics
• Jeffrey Chamberlain, Ph.D., Professor, Neurology
• Phillip Chance, M.D., Professor, Pediatrics and Neurology
• Gwenn Garden, M.D., Ph.D., Associate Professor, Neurology
• Albert La Spada, M.D., Ph.D., Associate Professor, Laboratory Medicine
• James Leverenz, M.D., Associate Professor, Neurology and Psychiatry and Behavioral Sciences
• Thomas Moeller, Ph.D., Research Associate Professor, Neurology
• Leo Pallanck, Ph.D., Associate Professor, Genome Sciences
• Wendy Raskind, M.D., Ph.D., Professor, Medicine and Psychiatry and Behavioral Sciences
• Gerard Schellenberg, Ph.D., Research Professor, Medicine and Neurology
• Nephi Stella, Ph.D., Associate Professor of Pharmacology and Psychiatry and Behavioral Sciences
• Stephen Tapscott, M.D., Ph.D., Professor, Neurology
• Jing Zhang, M.D., Ph.D., Professor, Neurology