Medical Research

Hereditary Disease Foundation

Nancy Wexler, Robert Darnell, Jean Paul Vonsattel
New York, NY
June 2014

The team’s goal is to discover and understand the mode of action of genetic modifiers of age of onset and other symptoms of Huntington’s disease (HD).  For over two decades Hereditary Disease Foundation researchers characterized its extensive Venezuelan HD kindred cohorts.  A genome-wide linkage scan of this unique population demonstrated strong statistical support for three genetic modifier loci for age of HD onset.  The investigators propose to identify the specific genetic variants responsible for modification of age of onset for HD.  Neurological, psychiatric and cognitive examinations, well preserved brain tissue and germ line DNA represent an unprecedented resource for carrying out this study.  They will conduct next-generation whole genome sequencing of key family groups, in-depth transcriptome analysis of brain regions, and genome-wide epigenetic analysis on germ line DNA at the New York Genome Center.  The unique combination of resources in this project provides an extraordinary opportunity to unravel the pathway for age of onset.  Results from this project could be applied to other inherited and other neurological diseases.

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