Nancy Wexler

On December 6, 2007, Prestwick Pharmaceuticals presented information to the United States Food and Drug Administration (FDA) regarding tetrabenazine. Tetrabenazine was a drug that helped treat chorea, a symptom associated with Huntington's disease. Wexler posted a note of action to her Hereditary Disease Foundation regarding the safety of this drug. In her letter, Wexler stated that she would speak in front of the FDA committee regarding her own personal experience with HD and why she believed tetrabenazine could benefit those with HD. Until this point, there were no approved treatments in the United States for chorea associated with HD. She urged patients with chorea to speak to the potential for this much needed use of tetrabenazine. It was with the aid of Nancy Wexler that tetrabenazine was able to be approved by the FDA.

Since 1986, presymptomatic and prenatal testing for HD has been available internationally. Nancy Wexler served as a director of a program that provided presymptomatic and prenatal testing for Huntington's disease. She also worked as a counselor in this program and had the opportunity to speak with over 100 individuals regarding testing. Regarding prenatal testing, Wexler believes that in-depth and detailed counseling must accompany both disclosing and nondisclosing testing.

Nancy Wexler first encountered the idea of using polymorphisms as markers in October 1979. She was hosting a workshop and listened as key theorists explained their visions of gene hunting and was struck with the idea. It was from her idea that James F. Gusella focused on finding HD markers. He quickly hit upon the marker that would determine if a person had HD. Wexler gave Gusella samples of blood that she had collected from people in Venezuela and one after another, the samples confirmed the early finding.

Wexler's mother's symptoms progressed from fingers moving constantly, to uncontrollable motions. Nancy explains, “When she sat, her spasmodic body movements would propel her chair along the floor until it reached a wall, her head would bang repeatedly against the wall. To keep her from hurting herself at night, her bed was padded with lamb’s wool.” She continued to lose weight; she needed to consume at least 5,000 calories a day because of her unique metabolism. She died on Mother's Day, 1978.

In 1976 the U.S. Congress formed the Commission for the Control of Huntington's Disease, and as part of their work, Wexler and the team travelled to Barranquitas and Lagunetas, two settlements on Lake Maracaibo, Venezuela, where villagers had a particularly high occurrence of Huntington's. Starting in 1979, the team conducted a twenty-year-long study in which they collected over 4,000 blood samples and documented 18,000 different individuals to work out a common pedigree. The discovery that the gene was on the tip of chromosome 4 led to the development of a test for the disease. For her work, she has been awarded the Mary Woodard Lasker Award for Public Service, the Benjamin Franklin Medal in Life Science (2007), and honorary doctorates from New York Medical College, the University of Michigan, Bard College and Yale University. She is a fellow of the Hastings Center, an independent bioethics research institution.

From 1963, Wexler studied for her A.B. in psychology at Radcliffe College, graduating in 1967. She then earned a PhD in clinical psychology from the University of Michigan in 1974. While studying for her A.B. she was required to take an introductory biology course, which constitutes "[her] only formal education in biology." In 1968 her father started the Hereditary Disease Foundation, which introduced her to scientists such as geneticists and molecular biologists. Along with textbooks and lectures she attends, the scientists "have really been [her] teachers since then." Nancy and Alice both became very involved in the foundation and both became trustees. Nancy is now President of the foundation. The group raises funds for research on HD and related inherited diseases. They also sponsor interdisciplinary workshops for scientists who work on HD and other genetic diseases.

Nancy Wexler (born 19 July 1945) FRCP is an American geneticist and the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the Columbia University College of Physicians and Surgeons, best known for her involvement in the discovery of the location of the gene that causes Huntington's disease. She earned a Ph.D. in clinical psychology but instead chose to work in the field of genetics.

Nancy Wexler was born 19 July 1945, in Washington, D.C., and grew up in Pacific Palisades, California and Topeka, Kansas. Wexler's father, Dr. Milton Wexler, was a psychoanalyst and clinical psychologist, and her mother was a geneticist who taught biology before her children were born. Both parents taught the girls different areas of science, including the environment, nature, physics, and astronomy. Wexler's grandfather died when her mother, Leonore, was only 15 years old. Leonore looked up Huntington's disease (HD) at the library and read that it was "a fatal, inherited disease only affecting men." Leonore's three brothers, Seymour, Paul, and Jesse Sabin, all had HD and died within four years of each other. The diagnosis was kept a secret from the rest of the family for many years. The uncles were called "nervous," instead of ill. When Leonore started showing symptoms of HD, her then ex-husband, Milton, kept the diagnosis from her for about a year. She still thought that HD only affected men. When they finally told her she had HD, Nancy said, “Her mother did not protest. It seemed as if Leonore, knowing her family history, had perhaps understood the truth all along.”