CENTER FOR GENETIC STUDIES IN NEUROLOGICAL DISORDERS

Project: Research project

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
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  • National Institutes of Health: $1,140,513.00
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  • National Institutes of Health: $369,016.00
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  • National Institutes of Health: $1,316,539.00
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  • National Institutes of Health: $971,619.00
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  • National Institutes of Health: $1,136,364.00
  • National Institutes of Health: $75,000.00
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Fingerprint

Limb-Girdle Muscular Dystrophies
Autistic Disorder
Nervous System Diseases
Informatics
Genes
Genetic Linkage
Genetic Techniques
Molecular Biology
Neurology
Tuberous Sclerosis
Mutation
Chromosomes, Human, Pair 7
DNA
Oculopharyngeal Muscular Dystrophy
Tooth Diseases
Chromosomes
Computational Biology
Chromosome Mapping
von Hippel-Lindau Disease
Spinal Muscular Atrophy

ASJC

  • Medicine(all)
  • Neuroscience(all)