HD Insights™

Volume 3

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A Huntington disease r e s e ar c h Research Round-Up Dr. Lise Munsie overviews recent developments in HD research. Page 3 CHDI Highlights Notes on this year's presentations at the CHDI HD Therapeutics Conference in Palm Springs, California. Page 4 Antisense Oligoneucleotides Dr. Emily Mitchell Sontag overviews the promises and Status Report: Clinical Trials At a glance information on current clinical trials in HD. Page 5 challenges of using ASOs for gene silencing. Page 6 HDInsights periodical Issue No 3 -- Fall 2012 Meet Isis Pharmaceuticals Senior Vice President Dr. C. Frank Bennett discusses the company's drug development efforts using ASOs. Page 8 HD Research in Chile Dr. Claudio Hetz and Dr. Rene Vidal discuss interventions that may alleviate secretory pathway stress in HD. Page 11 An Interview with Dr. Nancy Wexler: Discovering the Huntington Disease Gene By: Kristin Darwin One morning in 1968, Dr. Nancy Wexler's mother, Leonore Wexler, had jury duty in downtown Los Angeles. As Leonore crossed the street on the way to the courthouse, a policeman yelled to her, "How can you be drunk so early in the morning?" Leonore realized that she had been staggering – an obvious sign that something was wrong. Soon after, Leonore was diagnosed with Huntington disease (HD). Nancy Wexler, who was pursuing a PhD in clinical psychology at the time of her mother's diagnosis, devoted her life to the study of HD. In 1979, Wexler and her colleagues began a research project in Venezuela to search for the HD gene. They surmised that finding the gene was the most direct route to the development of treatments, even cures! They developed a pedigree of over 18,000 individuals and collected more than 4,000 blood samples from the largest extended family with HD ever to have been discovered. Their data led to the identification of the gene responsible for HD. Today, Wexler continues her involvement with HD as the Higgins Professor of Neurophysiology at Columbia University, and as President of the Hereditary Disease Foundation. At the November 2011 Huntington Study Group meeting, Wexler told HD Insights about the series of events that led to the discovery of the gene responsible for HD. (continued on Page 2...) HD Insights, Vol. 3 Nancy Wexler, PhD Dr.Wexler is the Higgins Professor of Neuropsychology in the Dept.s of Neurology and Psychiatry of the College of Physicians and Surgeons at Columbia University, as well as the President of the Hereditary Disease Foundation. Copyright © Huntington Study Group 2012. All rights reserved. 1 TM

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