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Genetic Studies

Hopkins researchers have been recognized as leaders in the fields of Huntington's disease (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 HD.

Currently, we are searching for the factors that influence how fast HD progresses. The length of the CAG repeat in the huntingtin gene is one major predictor of age of onset. However, we have evidence of other familial factors that are likely genetic contributions to age of onset as well. We and other centers have found that the length of the CAG 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.

Testing for these studies is performed by the Neurogenetic Testing Laboratory with The Baltimore Huntington's Disease Center.

For research information, please contact:

Kia Ultz
Research Program Coordinator
Johns Hopkins University
600 N. Wolfe Street, Meyer 2-181
Baltimore, MD 21287

410-955-1349 desk
410-955-8233 fax

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