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After earning her doctorate in 1974, Wexler set out to look for work, armed with glowing recommendations from her thesis advisers, who by this time had learned of her risk. "I had to ask them to rewrite their letters, to tone them down," she confesses. "While they didn't say I was at risk, they portrayed me as being totally committed to Huntington's research. I was worried that a potential employer might become suspicious that I was at risk and be afraid to hire me."
Wexler did find work: first as a psychology teacher at New York City's New School for Social Research, eventually as a researcher at the National Institutes of Health. Getting that job, says Wexler, "was very healing to me. They knew I was at risk, and they were familiar with Huntington's symptoms. They knew I would become a civil service employee and they would have a hard time getting me out of there if I got sick. Yet they hired me. Finally everything was out in the open."
By this time genetic researchers were devising ingenious ways to isolate and identify disease genes in human DNA, and Wexler recalled a Huntington's meeting she attended in 1972. There a doctor reported the discovery of a group of interrelated Huntington's families, numbering in the thousands, who live along the shores of Venezuela's Lake Maracaibo. "At the time," says Nancy, "we all thought that this extended family was a fantastic resource for genetic research, but nobody knew how to formulate the right research." Wexler decided it was time to act.
In 1979 she led a small expedition to Lake Maracaibo. There she took blood samples from several members of the Huntington's family and sent the samples back to the U.S. for analysis, hoping they might provide a clue to the illness. No luck. Undaunted, she returned to Venezuela in 1981, this time with a larger team and a detailed battle plan. Interviewing hundreds of family members, she began constructing a huge family tree, tracing the transmission of the Huntington's gene from generation to generation. From each person on the chart, she took blood and skin samples.
At first the villagers were suspicious and reluctant to cooperate. Frustrated, Wexler called a town meeting. "We explained that we were trying to find the cause of the disease," she says, "and while it might not help them, it could help their children and grandchildren." She told the villagers that her mother had died of Huntington's and that she might also be stricken. Holding up her right arm, she pointed to a tiny biopsy scar and revealed that she too had contributed a skin sample for analysis. "They really understood that," Nancy says, "and I think they soon realized that we meant them no harm. I became sort of like a family friend, with syringe."
The skin biopsies (soon found to be unnecessary) and blood samples were sent, along with pedigree data, to James Gusella, a young Canadian scientist working at Massachusetts General Hospital. Using a new technique, he was able to locate a DNA marker close to the Huntington's gene. It lay toward the tip of the short arm of chromosome 4. That discovery led to the development of a test, now 96% accurate, that can determine the presence of the errant gene long before any symptoms show up.