Eric Vilain
Biography
Eric Vilain, M.D., Ph.D., is Associate Vice Chancellor for Scientific Affairs for Health Affairs, Vice Dean for Clinical Research, and Director and Principal Investigator of the Institute for Clinical and Translational Science at the University of California, Irvine, where he also serves as Professor in the Department of Pediatrics. He received his M.D. from Faculté de Médecine Necker Enfants Malades in Paris and his Ph.D. in Genetics from Université Pierre et Marie Curie/Pasteur Institute. Vilain has spent over 25 years investigating the genetic basis of differences/disorders of sex development (DSD) and sex differences in the brain, establishing himself as a researcher in human sexual development and its clinical applications.
Vilain directs multiple federally funded research programs, including the Pediatric Mendelian Genomics Research Center and the Southern California Undiagnosed Disease Network, both supported by the National Institutes of Health. He leads the Differences of Sex Development Translational Research Network, a multi-institutional consortium focused on genetic diagnosis and clinical care for individuals with DSD. His laboratory has pioneered the application of advanced genomic technologies, including optical genome mapping and long-read sequencing, to identify structural variants and complex genetic alterations that elude conventional diagnostic approaches. His research extends to global health, where he has established collaborative programs in the Democratic Republic of the Congo investigating the genomics and environmental factors underlying konzo, a neurological disorder linked to dietary cyanogenic exposure.
Throughout his career, Vilain has held faculty positions at UCLA (1998-2017), where he served as Chief of the Division of Medical Genetics and Director of the Center for Gender-Based Biology, and at Children's National Medical Center and George Washington University (2017-2022), where he was A. James Clark Distinguished Professor and Chair of the Department of Genomics and Precision Medicine. He has served on the Board of Scientific Counselors for the National Institute of Child Health and Human Development and as Past President of the International Academy of Sex Research. Vilain has also served as an advisor to the International Olympic Committee on eligibility policies for athletes with DSD, contributing to evidence-based approaches to complex questions at the intersection of biology, ethics, and sports policy.
Return to topEducation
- M.D., Faculté de Médecine Necker Enfants Malades, Paris, 1989
- Ph.D. in Genetics, Université Pierre et Marie Curie / Pasteur Institute, 1994
Distinctions
- President, International Academy of Sex Research, 2018
- E. Mead Johnson Award for Pediatric Research, 2011
- March of Dimes Pruzanksy Lecture Award, 2015
- Distinguished Clinical Scientist Award, Doris Duke Charitable Foundation, 2008
- Basil O'Connor Award, March of Dimes, 2002
- Award, International Academy of Pathology, 1995
- Host, International Academy of Sex Research Conference, UCLA School of Medicine, 2011
- Fellow, American College of Medical Genetics, 2000-present
- David Smith Award, Western Society for Pediatric Research, 1996
Areas of Expertise
- Medical Genetics
- Sex Determination Mechanisms
- Disorders of Sex Development
- Genomic Structural Variants
- Long-Read Sequencing Technologies
- Epigenetic Biomarkers
- Rare Disease Diagnostics
Recent Publications
- Roxon J, Dumont MS, Vilain E, Sofonea MT, Pellenq RJ, “Urban environmental and population factors as determinants of COVID-19 severity: A spatially-resolved probabilistic modeling approach” (opens in new tab), Plos Digital Health, vol. 4, no. 7, pp. e0000921, 2025.
- Pitsava G, Hawley M, Auriga L, de Dios I, Ko A, Marmolejos S, Almalvez M, Chen I, Scozzaro K, Zhao J, Barrick R, Ah Mew N, Fusaro VA, LoTempio J, Taylor M, Mestroni L, Graw S, Milewicz D, Guo D, Murdock DR, et al., “Genome sequencing reveals the impact of pseudoexons in rare genetic disease” (opens in new tab), Genetics in Medicine, vol. 27, no. 11, pp. 101574, 2025.
- Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E, “Using a chat-based informed consent tool in large-scale genomic research” (opens in new tab), Journal of the American Medical Informatics Association, vol. 31, no. 2, pp. 472-478, 2024.
- Parivesh A, Délot E, Reyes A, Ryan J, Bhattacharya S, Harley V, Vilain E, “Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development” (opens in new tab), Biology of Sex Differences, vol. 15, no. 1, pp. 24, 2024.
- Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E, “Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis” (opens in new tab), Clinical Genetics, vol. 104, pp. 377-383, 2023.
- LoTempio J, Delot E, Vilain E, “Benchmarking long-read genome sequence alignment tools for human genomics applications” (opens in new tab), PeerJ, vol. 11, pp. e16515, 2023.
- Vilain E., “The genetics of ovotesticular differences of sex development” (opens in new tab), Genetic Steroid Disorders Second Edition, pp. 285-288, 2023.
- Delot E.C., Vilain E., “Differences of Sex Development” (opens in new tab), Yen and Jaffe S Reproductive Endocrinology Physiology Pathophysiology and Clinical Management, pp. 365-394.e7, 2023.
- Sandberg DE, Vilain E, “Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care” (opens in new tab), Lancet Diabetes and Endocrinology, vol. 10, pp. 381-383, 2022.
- Bhattacharya S, Amodei R, Vilain E, Roselli CE, “Identification of differential hypothalamic DNA methylation and gene expression associated with sexual partner preferences in rams” (opens in new tab), PLoS One, vol. 17, no. 5, pp. e0263319, 2022.
- Kocher K, Bhattacharya S, Bramble MS, Okitundu-Luwa D, Ngoyi DM, Tshala-Katumbay D, Vilain E, “DNA methylation patterns associated with konzo in Sub-Saharan Africa” (opens in new tab), Clinical Epigenetics, vol. 14, no. 1, pp. 179, 2022.
- Bhattacharya S, Barseghyan H, Délot EC, Vilain E, “nanotatoR: a tool for enhanced annotation of genomic structural variants” (opens in new tab), BMC Genomics, vol. 22, no. 1, pp. 10, 2021.
- Porras AR, Bramble MS, Mosema Be Amoti K, Spencer D, Dakande C, Manya H, Vashist N, Likuba E, Ebwel JM, Musasa C, Malherbe H, Mohammed B, Tor-Diez C, Ngoyi DM, Katumbay DT, Linguraru MG, Vilain E, “Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo” (opens in new tab), European Journal of Medical Genetics, vol. 64, no. 9, pp. 104267, 2021.
- Bramble MS, Vashist N, Ko A, Priya S, Musasa C, Mathieu A, Spencer A, Lupamba Kasendue M, Mamona Dilufwasayo P, Karume K, Nsibu J, Manya H, Uy MNA, Colwell B, Boivin M, Mayambu JPB, Okitundu D, Droit A, Mumba Ngoyi D, Blekhman R, et al., “The gut microbiome in konzo” (opens in new tab), Nature Communications, vol. 12, no. 1, pp. 5371, 2021.
- Martínez-Patiño MJ, Blas Lopez FJ, Dubois M, Vilain E, Fuentes-García JP, “Effects of COVID-19 Home Confinement on Behavior, Perception of Threat, Stress and Training Patterns of Olympic and Paralympic Athletes” (opens in new tab), International Journal of Environmental Research and Public Health, vol. 18, no. 23, pp. 12780, 2021.
- Délot EC, Vilain E, “Towards improved genetic diagnosis of human differences of sex development” (opens in new tab), Nature Reviews Genetics, vol. 22, pp. 588-602, 2021.
Most Cited Publications
- Hughes IA, Houk C, Ahmed SF, Lee PA, “Consensus Statement on Management of Intersex Disorders” (opens in new tab), Arch. Dis. Child., vol. 91, pp. 554-63, 2006.
- Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer J, Horvath S, Vilain E, “Epigenetic Predictor of Age” (opens in new tab), PLoS One, vol. 6, pp. e14821, 2011.
- McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M, “A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development”, Proceedings of the National Academy of Sciences of the United States of America, vol. 90, pp. 3368-3372, 1993.
- Ngun T, Gharhamani N, Sanchez FJ, Bocklandt S, Vilain E, “The genetics of sex differences in brain and behavior” (opens in new tab), Frontiers in Neuroendocrinology, vol. 32, pp. 227-46, 2011.
- Dewing P, Tao S, Horvath S, Vilain E, “Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation” (opens in new tab), Molecular Brain Research, vol. 118, pp. 82-90, 2003.
- Jordan BK, Mohammed M, Ching S, Delot E, Chen X-N, Dewing P, Rao PN, Swain A, Elejalde BR, Vilain E, “Upregulation of WNT-4 signaling and dosage-sensitive sex reversal in humans” (opens in new tab), American Journal of Human Genetics, vol. 68, pp. 1102-1109, 2001.
- Dewing P, Chiang C, Sinchak K, Sim H, Chesselet MF, Micevych P, Harley V, Vilain E, “Direct Regulation of Adult Brain Function by the Male-Specific Factor SRY” (opens in new tab), Current Biology, vol. 16, pp. 415-420, 2006.
- Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E, “Mutant Cohesin in Premature Ovarian Failure” (opens in new tab), New England Journal of Medicine, vol. 370, pp. 943-949, 2014.
- Houk CP, Hughes IA, Ahmed SF, Lee PA, “Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference” (opens in new tab), Pediatrics, vol. 118, pp. 753-7, 2006.
- Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Delot E, et al., “Exome Sequencing for the Diagnosis of 46, XY Disorders of Sex Development” (opens in new tab), Journal of Clinical Endocrinology and Metabolism, vol. 100, pp. E333-44, 2015.
Contact Information
Email: evilain@uci.edu
Phone: (949) 824-3353
Address: 1111 Hewitt Hall 843 Health Science Road
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Last updated on 6/2/2026.