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Genetic Studies
Hopkins researchers have been recognized as leaders in the fields
of HD gene discovery and genetic testing. Recent advances have expanded
the clinician's ability to provide more exact information about
age of onset and other factors important to families dealing with
Huntington's Disease.
Currently, we are searching for the factors that influence and
rate of progression of HD. The length of the triplet repeat in the
Huntingtin gene is one major predictor of age of onset. However,
we have evidence of other familial factors likely genetic contribute
to age of onset as well. We are also looking at what determines
the rate of progression. We and other centers have found that the
length of the triplet repeat does not predict the rate of progression
and we are searching to see if familial factors might be involved
in this as well.
We are also very interested in finding other genes, which can cause
HD-like diseases. The research program run by Dr. Russell L. Margolis
has identified several such genes including HDL-2, DRPLA and SCA-12.
Patients with HD-like syndromes but who do not have the HD gene
mutation are of great interest for our research programs.
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