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Archive - Oct 28, 2013

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Awards, Newborn Screening, and Futuristic Presentations Highlight Last Day of ASHG Annual Meeting

The breakthrough-loaded 2013 annual meeting of the American Society of Human Genetics (ASHG) ended its five-day run in Boston with an awards session, followed by concurrent research presentation sessions, and ending with three riveting presentations on the future of genetics and systems biology by three world-leading researchers. The morning started with the presentation of the ASHG Victor A. McKusick Leadership Award presently jointly to Rochelle Hirschorn, M.D., and her husband, Kurt Hirschorn, M.D. The McKusick award honors the legendary Victor McKusick, M.D., who is often referred to as the “Father of Medical Genetics,” and his far-reaching and visionary contributions to genetics. Recipients are chosen for their enduring vision and leadership to ensure that human genetics will flourish and be successfully assimilated into the broader context of science, medicine, and health. In a moving moment, the award recipients were introduced by their son, Joel, M.D., Ph.D., from the Department of Genetics at Harvard Medical School. Dr. Rochelle Hirschorn was the Chief of Medical Genetics at New York University’s Langone Medical Center for 24 years. Her major discoveries include clarifying the sequence of acid alpha glucosidase and most of its defects in Pompe disease, and delineating the genetic structure and pathophysiology of adenosine deaminase (ADA ) deficiency, an autosomal recessive metabolic disorder that causes immunodeficiency. She also described the phenomenon of reverse mutations as a cause of “self-cure” in ADA deficiency patients and predicted the utility of gene therapy for ADA deficiency.