CENTER FOR GENETIC STUDIES IN NEUROLOGICAL DISORDERS

Project: Research project

Project Details

Description

This Program Project involves clinical neurology, genetic linkage analyses and molecular genetic techniques and strategies to study genetic neurological disorders that are at different stages of genetic research. The Project involves six projects and one Core. Project 1 describes diagnostic evaluations, DNA collection, and general linkage analyses for several diseases for which the genetic locus is unknown including non-Duffy-linked Charcot-Marie-Tooth Disease Type 1, vestibular periodic ataxia, autosomal dominant limb girdle muscular dystrophy, oculopharyngeal muscular dystrophy and facio humeral muscular dystrophy. Project 2 proposes continued clinical and linkage studies in tuberous sclerosis, a phakomatous disease for which a tentative locus has been suggested but not proven. Project 3 proposes fine chromosome mapping for two phakomatous diseases, neurofibromatosis and von Hippel-Lindau disease, for which the regional location of the chromosome loci have been established. Project 4 proposes to continue the family development and general linkage analysis for inherited spinal muscular atrophies and other inherited motor neuron diseases, and proposes subtraction hybridization strategies to provide candidate genes. Project 5 describes detailed gene analyses, including characterization of the deletion mutations in Duchenne muscular dystrophy as well as a genetic analysis of the site of mutations, and to study patterns of expression of the DMD gene product in DMD carriers and in a new canine model with deletion of the dystrophin gene. Project 6 proposes to use molecular genetic strategies to define putative antigens in autoimmune myasthenia gravis patients that directly correlate with the pathogenesis and severity of disease, as well as proposing to initiate family genetic studies to determine possible genetic factors that influence the expression of the disease. Core Unit A provides the overall data management and contains the DNA banking facility for the various projects.
StatusFinished
Effective start/end date1/1/898/31/10

Funding

  • National Institutes of Health: $1,043,189.00
  • National Institutes of Health: $1,134,045.00
  • National Institutes of Health: $1,490,051.00
  • National Institutes of Health: $1,347,957.00
  • National Institutes of Health: $122,400.00
  • National Institutes of Health: $1,130,494.00
  • National Institutes of Health: $1,293,410.00
  • National Institutes of Health: $100,788.00
  • National Institutes of Health: $1,349,852.00
  • National Institutes of Health: $1,140,513.00
  • National Institutes of Health: $25,858.00
  • National Institutes of Health: $119,035.00
  • National Institutes of Health: $369,016.00
  • National Institutes of Health: $1,586,293.00
  • National Institutes of Health: $1,234,834.00
  • National Institutes of Health: $1,316,539.00
  • National Institutes of Health: $971,619.00
  • National Institutes of Health: $1,136,364.00
  • National Institutes of Health: $75,000.00

ASJC

  • Medicine(all)
  • Neuroscience(all)

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