Eric Vilain

Eric Vilain, MD, PhD

Professional affiliations:


Research interest:

  • Human Genetics

Employer name:

  • The George Washington University


  • Differences in Sex Development

Brief biography: 

  • Eric Vilain, M.D., Ph.D., is the director of the Center for Genetic Medicine Research at Children’s National Health System and the Chair of the Department of Genomics & Precision Medicine at George Washington University.

    His laboratory explores the impact of genetic changes on human development in health and disease. Dr. Vilain has a longstanding interest in the genetics of sexual development, focusing on the molecular mechanisms of gonad development, as well as on the genetic determinants of brain sexual differentiation, including sexual orientation and gender identity. He has identified a large number of mutations in sex-determining genes and developed animal models with atypical sexual development. In addition, he has published extensively in the fields of genetics and endocrinology.

    Dr. Vilain has received numerous awards, notably from the National Institute of Health, the March of Dimes, the Doris Duke Charitable Foundation and the Society for Pediatric Research. He is a fellow of the American College of Medical Genetics, a Member of International Olympic Committee on Hyperandrogenism in Athletes and a member of the Board of Scientific Counselors for the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

    He earned his medical degree from the Paris Children’s Hospital Necker, his Ph.D., from the Pasteur Institute in Paris, France. He then completed a post-doctoral fellowship in medical genetics at the University of California, Los Angeles, where he became professor of Human Genetics, Pediatrics and Urology in the David Geffen School of Medicine and the Chief of Medical Genetics.

    Selected Publications:

    • Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau YF Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ, Urol Oncol, 2007; 25: 141-6:
    • Nikolova G, Sinsheimer J, Vilain E Region on mouse chromosome 11 provides protection from sex reversal in a C57BL/6JYpos Congenic Strain, Genetics, 2008; 179: 419-427:
    • Kerkel K, Spadola A, Yuan E, Kosek J, Jiang L, Hod E, Li K, Murty VV, Vilain E, Morris M, Haghighi F, Tycko B Genome-wide surveys by MSNP show allele-specific DNA methylation tracking with single-nucleotide polymorphisms, Nature Genetics, 2008; 40: 904-908:
    • Miousse ER, Watkins D, Lavallee J, Coelho D, Clarke JTR, Crombez E, Vilain E, Cederbaum S, Berstein J, Cowan T, Enns BM, Fowler B, Rosenblatt D Clinical and genetic findings in patients with the cblD inborn error of cobalamin metabolism, J Pediatrics, 2008; in press:
    • Hare, L., Bernard, P., Sanchez, F. J., Vilain, E., Kennedy, T., & Harley, V. Androgen receptor (AR) repeat length polymorphism associated with male-to-female transsexualism Biological Psychiatry, 2009; 65: 93-96: [link]
    • Hennekam Raoul C M, Allanson Judith E, Biesecker Leslie G, Carey John C, Opitz John M, Vilain Eric Elements of morphology: Standard terminology for the external genitalia American journal of medical genetics. Part A, 2013; 161(6): 1238-63. [link]
    • Sánchez Francisco J, Martínez-Patiño María José, Vilain Eric The new policy on hyperandrogenism in elite female athletes is not about "sex testing" Journal of sex research, 2013; 50(2): 112-5 [ link ] .
    • Sánchez Francisco J, Bocklandt Sven, Vilain Eric The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation Health psychology : official journal of the Division of Health Psychology, American Psychological Association, 2013; 32(1): 52-6. [link]