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12 - The Boat Trip, April 4, 1985

Published online by Cambridge University Press:  17 May 2025

Anne Buckingham Young
Affiliation:
Massachusetts General Hospital
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Summary

Abstract: Anne went back to Venezuela and Lagunetas in 1982 and annually for all subsequent years until the project stopped in 2002. In 1983, Nancy invited Jack to Venezuela as part of the team of neurologists. He became a key investigator who focused on examining the clinical data collected from the patients. Jim Gusella and his genetics lab at Mass General found a marker that tracked with the HD gene in every affected member of the Venezuelan HD family. The marker was located near the HD gene at the tip of the short arm of human chromosome 4. This discovery was the first time the new strategy for gene mapping – what would become the Human Genome Project – had located a novel gene. Now, that same approach could be used for mapping other diseases and, indeed, the entire human genome. The discovery made the front page of the New York Times, and a news conference took place in the Ether Dome at Mass General. Anne was invited to attend as one of the study neurologists. It was her first visit to Mass General. They hoped the actual gene would be discovered soon. In early April 1985, Anne went without Jack on what started as a typical Lagunetas trip. They survived a huge storm on their way back to Maracaibo, which almost led to a near-death shipwreck.

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