He is also the director of the Yale Center for Human Genetics and Genomics. He earned his Bachelor of Arts in biological sciences from Dartmouth College and in 1986 he got his Doctor of Medicine and Doctor of Philosophy in biochemistry from Stanford University. He trained at Brigham and Women"s Hospital before starting his lab at Yale in 1993.
In 2014 he was awarded the $3 million Breakthrough Prize in Life Sciences for his work.
He has been a Howard Hughes Medical Institute (HHMI) investigator since 1994. He was inducted into the National Academy of Science, Institute of Medicine, and is a Fellow of the American Association for the Advancement of Science.