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Nancy Wexler, Ph.D., is Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the College of Physicians and Surgeons at Columbia University, as well as the President of the Hereditary Disease Foundation. Involved in public policy, individual counseling, genetic research, and federal health administration, she is most widely known for her important scientific contribution on Huntington's disease. Since 1979, Wexler has led a research study in Venezuela of the world's largest family with Huntington's disease, developing a pedigree of over 18,000 individuals and collecting over 4,000 blood samples which helped lead to the identification of the Huntington's disease gene at the tip of human chromosome 4. These same blood samples have assisted in the mapping of other disease genes, including those responsible for familial Alzheimer's disease, kidney cancer, two kinds of neurofibromatosis, Amyotrophic Lateral Sclerosis (ALS), dwarfism and others. One result of this work was the development of a presymptomatic test which could tell who is carrying the fatal gene prior to the onset of symptoms.
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EVIDENCE FRAMEWORK FOR GENETIC TESTINGpp.79-87, (2017)
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EVIDENCE FRAMEWORK FOR GENETIC TESTINGpp.19-34, (2017)
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EVIDENCE FRAMEWORK FOR GENETIC TESTINGpp.35-57, (2017)
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