Project description:

In collaboration with Prof. Nancy Wexler of Columbia University, we are performing a linkage genome scan to map loci which may modify the expression of Huntington's Disease.

While Huntington's is a fully penetrant autosomal dominant disorder with the number of repeats present at the HD locus highly predictive of age at onset of the disorder, many other aspects of the course of illness are not well understood. Even age-at-onset is only modestly correlated with repeat length when only intermediate HD repeat lengths are considered.

The HD locus all explains little of the progression of individual's symptons and ultimate duration of the illness. Evidence suggestions these aspects of HD are heritable, and therefore it may be possible to map the loci underlying them.