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16 - Groundbreaking Discovery

The HD Gene

Published online by Cambridge University Press:  17 May 2025

Anne Buckingham Young
Affiliation:
Massachusetts General Hospital
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Summary

Abstract: Anne’s first years at Mass General were very exciting scientifically. Faculty members Rudy Tanzi, Jim Gusella and their collaborators found the gene for one form of Alzheimer’s disease and Robert Brown found another gene for one form of amyotrophic lateral sclerosis (ALS). Finally, ten years after finding the marker, the project paid off. At the end of February 1993, Marcy MacDonald and Jim Gusella told Nancy and Anne that they had found the actual mutation in the gene for Huntington’s disease. Now they knew that the HD gene mutation was composed of an abnormal number of repeated sequences in the DNA, which was keeping with what other research scientists had already found to be the cause of several other neurologic diseases. The identification of the gene mutation allowed for many new experiments to be done. The identification of the gene mutation also made possible a simple blood test that allowed people to determine whether they had inherited HD. At first, there was some enthusiasm for getting tested. However, it soon became clear by the relative few who signed up for the test that many people would rather live with ambiguity than know they would definitely develop a deadly, incurable disease sometime in the future.

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Chapter
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Disorderly Movements
A Neurologist's Adventures in the Lab and Life
, pp. 258 - 271
Publisher: Cambridge University Press
Print publication year: 2025

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