His laboratory explores the genetics of sexual development and sex differences, focusing on the molecular mechanisms of gonad development, as well as on the genetic determinants of brain sexual differentiation. An internationally renowned expert in the field of gender-based biology, he has identified a large number of mutations in sex-determining genes, developed animal models with atypical sexual development, and identified novel mechanisms of sex differences in the brain.
His research program has been continuously supported by several grants from the NIH, and he has published extensively in the field of sexual development. He is a Fellow of the American College of Medical Genetics, and a member of numerous professional committees, including those related to the care of intersex individuals. In addition, Dr. Vilain has developed a clinic devoted to the care of patients with a variety of genetic and endocrine issues, with a particular emphasis on variations of sexual development. He has received numerous awards, notably from the NIH, the March of Dimes, the Doris Duke Charitable Foundation, and the Society for Pediatric Research.