Anthony Wynshaw-Boris received his M.D./Ph.D. degrees from Case Western Reserve University School of Medicine. During his Ph.D. under the direction of Richard Hanson, he elucidated the sequences within the phosphoenolpyruvate carboxykinase (PEPCK) promoter required for activation by cyclic adenosine monophosphate (cAMP) and glucocorticoids. He did his residency in pediatrics at Rainbow Babies and Children’s Hospital, followed by a medical genetics fellowship at Boston Children’s Hospital. While in Boston, he did a postdoctoral fellowship at Harvard Medical School under the direction of Philip Leder, where he studied mouse models of developmental disorders.

In 1994, Wynshaw-Boris set up an independent laboratory at the National Human Genome Research Institute of the National Institutes of Health, where he initiated a program using mouse models to study human genetic diseases, with a focus on neurogenetic diseases. In 1999, he moved to the University of California, San Diego School of Medicine, where he became professor of pediatrics and medicine, as well as chief of the division of medical genetics in the department of pediatrics. In 2007, he moved to the University of California, San Francisco School of Medicine, where he was the Charles J. Epstein Professor of Human Genetics and Pediatrics and the chief of the division of medical genetics in the department of pediatrics. In June 2013, he returned to Case Western Reserve to become the chair of the Department of Genetics and Genome Sciences.