Abstract

View Large Image | View Hi-Res Image | Download PowerPoint SlideGood morning.The Victor A. McKusick Leadership Award is presented on behalf of our society to an individual whose professional achievements have fostered and enriched the development of various human genetics disciplines. Recipients exemplify enduring leadership and the vision required for ensuring that human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health.This year’s recipient of the McKusick Leadership Award is Dr. Charles Scriver.Charles is a Canadian through and through! He was born in Montreal, Quebec, Canada. Both of his parents were distinguished academic physicians on the faculty of McGill University. Charles followed their path: he received his B.A. and his M.D. from McGill and did his internship and residency in pediatrics at that same institution.His training at McGill had two important interruptions: he did one year of residency (1957–1958) at Harvard and one year of fellowship (1958–1959) at University College London (UCL). These brief times away from McGill were important for Charles because they launched his career as a biochemical geneticist. At Harvard, he met Mary Efron, with whom he described new inborn errors of amino acid transport and metabolism. At UCL, he worked with C.E. Dent on cystinuria and learned the fundamentals of amino acid transport.Returning to McGill, Charles completed his chief residency in pediatrics and joined the pediatrics faculty. He rapidly rose in the ranks to become the director of the deBelle Laboratory for Biochemical Genetics and the Alva Professor of Human Genetics. His group was incredibly productive and became one of the most prominent in the world. He has published more than 400 papers and many book chapters. He has received numerous honorary degrees and awards, including the ASHG William Allan Award in 1978 and the Excellence in Human Genetics Education Award in 2001. Early in his career, he worked closely with Leon Rosenberg at Yale, another recipient of the McKusick Award. Together, they wrote a seminal book, Amino Acid Metabolism, which educated a generation of biochemical geneticists on this topic.From the “spring board” of biochemical genetics, Charles developed a voracious interest in all aspects of genetics and, in particular, how it informs medicine. His many contributions include delineation of new disorders, refinement and application of newborn and population screening, development and testing of novel treatments of genetic disease, informing public policy, genetic education, and the like.Along the way, he served on the ASHG Board of Directors and as our president in 1987. He also served as president of the Canadian Society of Clinical Investigation, the Society for Pediatric Research, and the Society for the Study of Inherited Metabolic Diseases.He married his wife, Zipper, in 1956, and together they have four children. After spending time with them both, I know that her support has been essential for his success.My own direct interactions with Charles began in the 1970s, when I was looking for a fellowship in biochemical genetics. I visited several programs and went through the usual drill: talks and interviews, typically ending with a statement of interest and promise to be in touch in a few days. By contrast, when I first walked in the door of Charles’s office, he said, “We would love to have you join our group, and let me tell you what we are doing.” His openness, honesty, and gentle directness were not only refreshing but, I learned, also constant features of Charles’ personality and his leadership style.Although I did not accept his offer, to my great good fortune I ended up working with Charles in many ways on many different projects over the years, in particular serving along with Art Beaudet and Bill Sly as editors of The Metabolic and Molecular Bases of Inherited Disease for the last 30 years. The experiences we shared on this joint venture were career highlights for all of us.The McKusick Award recognizes leadership, and we all know that different leaders have different styles. Charles’s style is the quintessential model of leading by example: accessing a problem, seeking advice, making a plan, and participating directly in seeing it through. This model has served him, and consequently us, very well over the years.Finally, Charles is a true scholar and is as comfortable discussing philosophy, history, or literature as he is describing the intricacies of phenylalanine hydroxylase. As a consequence, interactions with him are always wonderful learning experiences.In these many ways, Charles personifies the features of the McKusick Award, and I am thrilled and proud to be able to introduce him to you!

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