The American Society of Human Genetics (ASHG) named Arthur L. Beaudet (photo), MD, Henry and Emma Mayer Professor in the Department of Molecular and Human Genetics and the Department of Pediatrics at Baylor College of Medicine, as the 2017 recipient of the annual Victor A. McKusick Leadership Award. This award, named in honor of the late Victor A. McKusick, MD, recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine, and health. The ASHG presented the McKusick Award, which included a plaque and $10,000 prize, to Dr. Beaudet on October 17, 2017 during the organization’s 67th Annual Meeting in Orlando, Florida. In the 1980s, Dr. Beaudet and colleagues were the first to document uniparental disomy, a phenomenon in which a person receives two copies of a chromosome from one parent and zero from the other, in humans. In the following years, the researchers drew an important distinction between genetic and epigenetic diseases that both lead to altered expression of the same genes, and identified ways to study these and better understand the conditions they caused. Currently, Dr. Beaudet’s research focuses on neuronal carnitine deficiency as a risk factor for autism; the role of genomic imprinting in diseases such as Prader-Willi syndrome, Angelman syndrome, and autism; and prenatal genetic diagnosis based on fetal cells isolated from maternal blood.
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