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GENETIC LINKAGE TEST FOR HUNTINGTON'S DISEASE
Title: Principal Investigator
Phone: (617) 875-1336
HUNTINGTON'S DISEASE (HD) IS A PROGRESSIVE, NEURODEGENERATIVE, AUTOSOMAL DOMINANT DISEASE WHICH GENERALLY MANIFESTS ITSELF IN THE THIRD TO FIFTH DECADES OF LIFE. THE GOAL OF THIS PROJECT IS TO DEVELOP A GENETIC LINKAGE TEST FOR THE PRESYMPTOMATIC AND PRENATAL DIAGNOSIS OF HUNTINGTON'S DISEASE. IN PHASE I, WE WILL DEVELOP THE CAPABILITY FOR CONDUCTING A FIELD TRIAL IN PHASE II FOR THE TESTING OF INDIVIDUALS AT RISK FOR HUNTINGTON'S DISEASE BY GENETIC LINKAGE ANALYSIS. THE TECHNICAL FEASIBILITY OF IDENTIFYING PARTICULAR GENOTYPES ASSOCIATED WITH HD-LINKED POLYMORPHIC DNA MARKERS WILL BE RELIABLY AND ACCURATELY DETERMINED DURING PHASE I. PROCEDURES FOR SAMPLE COLLECTION, STORAGE, DNA EXTRACTION, AND HYBRIDIZATION WILL BE OPTIMIZED AND A PILOT REFERENCE LABORATORY FOR HAPLOTYPING WITH HD-LINKED MARKERS WILL BE ESTABLISHED. CRITICAL ELEMENTS ASSOCIATED WITH THE ADMINISTRATION OF A GENETIC LINKAGE TEST FOR HUNTINGTON'S DISEASE WILL BE IDENTIFIED AND PROCEDURES
* Information listed above is at the time of submission. *