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Dr. Charles Scriver

On the cover: Charles R. Scriver, M.D., President, American Society of Human Genetics, 1986. Since his birth in 1930, Charles R. Scriver has dedicated nearly his entire life in Montreal to making major contributions to the way we understand, detect, and manage inborn errors of metabolism. Both of his parents were physicians, and his mother was a member of McGill University's class of 1922, the first medical school class to accept women. Scriver followed in his mother's footsteps to McGill, and after completing his undergraduate (1951) and medical (1955) degrees, he did his internship and residency in medicine at the Royal Victoria Hospital before completing a residency in pediatrics at Boston Children's Hospital. Inspired by the many interesting patients he saw during his clinical training, he wanted not only to be able to label their diseases but also to understand these conditions better. This desire led him to work with Charles Dent and Harry Harris in London with help from a McLaughlin Fellowship. There, he gained an understanding of amino acid metabolism and chromatographic methods and started thinking about genetic disease in ways that would form the basis for much of the rest of his career. He returned to McGill in 1960 to become chief resident of pediatrics, and with guidance from Alan Ross, who was the chief of pediatrics at the time, he established the de Belle Laboratory for Biochemical Genetics in a new expanded Department of Medical Genetics with Clarke Fraser. He has been at McGill ever since, and his work has had a lasting impact on genetic medicine in Canada and internationally. During his career, Scriver described the first inborn error of amino acid transport—Hartnup disorder (Scriver et al. [1961]. Nature 192, 672–672)—and even infused himself with proline to test his hypothesis that hyperprolinemia would saturate a shared amino acid transporter and thus lead to spillage of multiple amino acids into the urine. His studies of seasonal rickets in Quebec led to the addition of vitamin D to Canadian milk. Scriver was instrumental in the development of the newborn-screening program in Quebec, and with the encouragement of Quebec Minister of Health Claude Castonguay, he developed a program that served as a model for others and included screening, education, and treatment. Dr. Scriver was the lead editor for The Metabolic and Molecular Bases of Inherited Disease (sixth to eighth editions) and is an editor emeritus for its online format (http://ommbid.mhmedical.com/ommbid-index.aspx). In addition to serving as president of the ASHG, he has also presided over the Society of Inherited Metabolic Diseases, the American Pediatric Society, and the Canadian Society for Clinical Investigation. In his forward-thinking ASHG presidential address (Scriver [1987]. Am. J. Hum. Genet. 40, 199–211), he advocated for the development of databases and information sharing to manage the onslaught of genetic data that was to come. To do their part, his group has hosted PAHdb, the Phenylalanine Hydroxylase Locus Knowledgebase, since the 1990s. A recipient of two of the major ASHG awards—the Allan Award in 1978 (Scriver [1979]. Am. J. Hum. Genet. 31, 243–263) and the Award for Excellence in Human Genetics Education in 2001—Dr. Scriver has also been inducted into the Canadian Halls of Fame for medicine and for science, and he is a recipient of the Prix du Quebec and the Howland Award of the American Pediatric Society. He is currently the Alva professor emeritus of human genetics at McGill. His work extends far beyond what could be summarized here and has been nicely documented by the Oral History of Human Genetics Project (http://ohhgp.pendari.com/index.aspx) and the Genetics and Medicine Historical Network (http://www.genmedhist.info). This image of Dr. Scriver was drawn by Peter James Field from a photograph he provided. It is used with permission.

http://www.cell.com/ajhg/issue?pii=S0002-9297%2814%29X0014-5 (accessed February 6, 2015)

Dr. Charles Scriver received the CCMG Founder's Award in 2003.