In Memoriam: Charles J. Epstein, MD

The entire medical genetics community mourns the passing of Charles J. Epstein and joins his wife, Lois, their four children, and their grandchildren in honoring his memory. Charlie's training included a B.A. in Chemistry from Harvard (Phi Beta Kappa), an M.D. from Harvard Medical School (AOA), 2 years as an Internal Medicine resident at Peter Bent Brigham Hospital, 2 years at the National Institutes of Health in the laboratory of Chris Anfinsen working on protein chemistry, and 1 year as a medical genetics fellow with Arno Motulsky in Seattle.

Charlie returned to the National Institutes of Health for 3 years as chief of the Section on Genetics and Development before coming to the University of California, San Francisco, with a Research Career Development Award (NICHD) to start and lead the Division of Medical Genetics in the Department of Pediatrics. He remained there for the rest of his career, becoming the director of the interdepartmental UCSF Program in Human Genetics and building a comprehensive and highly integrated service, training, and research program that became a model for other universities to emulate.

His early work in preimplantation biochemistry led to a better understanding of X inactivation and grew into a lifetime interest in the consequences of chromosomal imbalance (the title of his 1986 book). Charlie developed a mouse model of Down syndrome to study the pathogenic mechanisms of the syndrome. He became a driving force in many national and international Down syndrome organizations, and after chairing the National Down syndrome Society from 1979 to 2000, he was honored when the society renamed its annual awards the Charles J. Epstein Down syndrome Research Award.

During his busy career he found time to serve the genetics community as editor-in-chief of the American Journal of Human Genetics for 7 years, as president of the American Society of Human Genetics, as president of the American College of Human Genetics, and as president of the American Board of Medical Genetics.

Charlie's brilliance and thoughtful work were recognized by his many honors and awards. Among them were the March of Dimes Colonel Harland Sanders Award for Lifetime Achievement in the field of Genetic Sciences, the Distinguished Research Award of the Arc of the United States, the William Allan Award of the ASHG, and the 2010 ASHG McKusick Leadership Award. He was additionally honored by the establishment of the Charles J. Epstein Professorship in Human Genetics at UCSF, by a Lifetime Achievement Award from the American College of Medical Genetics, and by the Buck Institute for Research in Aging establishing an annual Charles J. Epstein Lecture Series. The UCSF Institute of Human Genetics recently established a visiting professorship in honor of Charlie and his wife, Lois, a renowned cancer researcher.

In the course of his career, Charlie trained 120 postdoctoral fellows, providing them with the model of the consummate clinician-scientist that he was. As one of his earliest fellows, I know I speak for all of them in expressing our respect, reverence, and love for Charlie, and that he will be missed by all of us.

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