BETHESDA, Md. – The American Society of Human Genetics (ASHG) has named Arthur L. Beaudet, 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. ASHG will present the McKusick Award, which will include a plaque and $10,000 prize, to Dr. Beaudet on Tuesday, October 17, 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, they 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, his 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.
In addition to his scientific leadership, ASHG also recognizes Dr. Beaudet's contributions to the Society and broader research community. A longtime member of ASHG, he belonged to its Program Committee from 1984-86, its Board of Directors from 1987-90, and its Awards Committee from 2010-12, and served as President in 1998. He received the Society's William Allan Award in 2007, and belonged to the Editorial Board of the ASHG-published The American Journal of Human Genetics from 1986-1989. In addition, he was awarded the Texas Genetics Society Barbara H. Bowman Award in 1999 and the March of Dimes' Colonel Harland Sanders Award for Lifetime Achievement in Genetic Research and Education in 2002. He has published more than 350 articles in the scientific literature.