Research Institutions
Part 2

Recent HD Research: Where the Action Is

II. HD Genetics

Indiana University School of Medicine

• Sends researchers to Lake Maracaibo, Venezuela, a community that has a high number of related individuals who are predisposed to developing HD. Researchers obtain specimen samples and test neurological functions to determine the genetic inheritance of HD.

University of Southern California

• Studied the Lake Maracaibo community and found that HD is caused by many genetic mutations that happen during mitosis—not just one in meiosis—and that the number of CAG repeats on the HD allele increases as the mutations accumulate over time.

Massachusetts General Hospital

• Found that certain types of brain cells tend to appear in higher densities in people who have a family history of HD.
• Studied the effects of HD on the transcription of genes across generations.

Last Modified: 5-09-03

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