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Project

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Genetic Studies of Neurologic and Dementing Disorders

Center:
WA-University of Washington Institute on Human Development and Disability, UCEDD/LEND
Fiscal Year:
2008
Contact Information:
Tom Bird
[email protected]
206-543-2340
Project Description:
The specific aims of these studies are to perform linkage analysis, discover genes, search for causative mutations, and perform genotype/phenotype correlations in four specific disease categories: (1) hereditary ataxias, (2) non-Alzheimer forms of dementia, (3) two types of neuromuscular diseases, and (4) two forms of episodic movement disorders.This project will increase the understanding of the genetic basis of diseases affecting the cerebral cortex, basal ganglia, cerebellum, and peripheral nervous system. The results will also contribute to more accurate neurological diagnosis and genetic counseling provided to families with these diseases. This project ascertains families with neurogenetic diseases, characterizes the phenotypes, obtains blood samples, and collaborates with molecular biologists and statistical geneticists in a systematic approach to chromosomal assignment and gene identification. Over the years this project has been involved in gene discovery for CMT1B, CMTC HNPP, Presenilin-2, FTD/tau, and hereditary ataxia SCA 14.
Keyword(s):
Core Function(s):
Performing Research or Evaluation
Area of Emphasis
Health-Related Activities
Target Audience:
Not Applicable
Unserved or Under-served Populations:
None
Primary Target Audience Geographic Descriptor:
National
Funding Source:
COVID-19 Related Data:
N/A
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