Eric Vilain
Vilain in 2019
Born1966
Alma mater
Known forGenetics of Disorders/Differences of Sex Development, biology of gender identity, biology of sexual orientation
Scientific career
FieldsGenetics, Endocrinology, Sexual Development
InstitutionsUniversity of California, Los Angeles – David Geffen School of Medicine

Children’s National Medical Center

George Washington University School of Medicine and Health Sciences
Doctoral advisorMarc Fellous

Eric Vilain is a physician-scientist and professor in the fields of Disorders/Differences of Sex Development (DSDs) and precision medicine. He has been the director of the Center for Genetic Medicine Research at Children's National Medical Center and the chair of the Department of Genomics and Precision Medicine at the George Washington University School of Medicine & Health Sciences in Washington, D.C. since 2017.[1][2][3] Vilain is a fellow of the American College of Medical Genetics, serves on the International Olympic Committee's Medical Commission, and sits on the Board of Scientific Counselors for the National Institute of Child Health and Human Development (NICHD).

Vilain is known for his research on the molecular mechanisms of DSDs, using DNA sequencing and animal models to discover the biological bases of sex differentiation. In addition to DSDs, Vilain has also published a large body of research on sex differences in the brain, the biology of sexual orientation, and gender identity. Vilain is described as "one of the world's foremost experts on the genetic determinants of DSDs" in the journal Nature.[4]

Biography

Vilain was born in 1966, in Paris, France. He attended the Faculté de Médecine Necker Enfants Malades in 1983, and obtained his MD in 1989. His first rotation as a medical student was in the referral center for the intersex newborns, which, he notes, was what first drove him to research DSDs.[5] In 1990, Vilain attended the Pasteur Institute at the Université Pierre et Marie Curie and obtained his PhD in genetics in 1994. Vilain then moved to Los Angeles, California in 1995 [6] to complete his residency and to train as a postdoctoral research fellow of Medical Genetics at the University of California, Los Angeles. In 1998, Vilain became a professor of Human Genetics and Pediatrics at the UCLA School of Medicine, and served as the Chief of Medical Genetics at the Department of Pediatrics and the Department of Urology until 2017. Vilain left UCLA in 2017 to become the director of the Center for Genetic Medicine Research at Children's National Medical Center and the chair of the Department of Genomics and Precision Medicine at the George Washington University School of Medicine and Health Sciences.

Career and research

Vilain is an expert on the Disorders of Sex Development and has published widely on the genetic pathways and molecular mechanisms underlying human sexual development.[6] His early research focused on the gene SRY and its role in the formation of the testes, as well as how certain mutations could explain diseases such as gonadal dysgenesis.[7] During his time at UCLA, he created mouse models to observe the effects of mutations on genes linked to sexual development. In 1999, Vilain was the first geneticist to describe IMAGe syndrome, a rare and severe congenital disease, and in 2012, identified its causative mutations.[8][9]

In 2005, he was one of the pediatricians present at the International Consensus Conference on Intersex in Chicago, to advocate for the term "disorders of sex development." He also worked with intersex advocate Bo Laurent to remove the term "hermaphrodite" from the medical vocabulary. In August 2006, Vilain, along with other members of pediatric societies signed the Consensus statement on management of intersex disorders, which stated that "terms such as intersex, pseudohermaphroditism, hermaphroditism, sex reversal, and gender based diagnostic labels are particularly controversial."[10] Vilain would write in a 2007 article for Nature Genetics titled "We Used to Call Them Hermaphrodites," that terms such as "intersex" and "hermaphrodite" should be abandoned, due to their connotations. Vilain is currently one of the principal investigators of the Differences/Disorders of Sex Development Translational Research Network (DSD-TRN), a large research network of 10 different medical sites. Vilain and his collaborators started the DSD-TRN in 2012 as a registry to assist in the care of patients with DSDs. As the Chief of Medical Genetics at UCLA, Vilain helped standardize the genetic and phenotypic reporting of DSDs to assist clinicians in interpretation and diagnosis.[11]

In 2011, Vilain was one of the members of the International Olympic Committee Medical Commission and helped revise the policies on female athletes with DSDs such as androgen insensitivity syndrome (AIS), spurred by the case of South African runner Caster Semenya in 2009. The Medical Commission settled on a testosterone limit of 10 nanomoles per liter of blood to be able to participate in women's events. Vilain has expressed reticence on the policy, citing the inconsistent application of the policy by the International Association of Athletic Federations.[6][12] In 2019, Vilain served as an expert witness defending Caster Semenya's right to compete as a woman in athletic competitions.[13]

Vilain also researches sex differences in the brain, most notably the biology of gender identity and sexual orientation. Along with other collaborators, Vilain and his team have published papers on the expression of sex-regulating genes effecting the differentiation of brains using mouse models[14] and studied the role the SRY gene plays in regulating adult brain function.[15] In 2006, his team, along with geneticist Dean Hamer, published research studying the linkage of gay males and markers on their mothers' X chromosome.[16] During the 2015 conference of the American Society of Human Genetics, his team presented findings on potential epigenetic differences in identical male twins discordant in sexual orientation. Researchers, however, noted and criticized the small sample size and questioned the statistical power of the study.[17] Since 2014, Vilain has led the joint research unit between the French Centre National de la Recherche Scientifique (CNRS) called EpiDaPo (Epigenetics, Data, Politics), an interdisciplinary research unit which studies the societal effects of genetics, environment, and big data research.[18] Vilain has been conducting global health research in the Democratic Republic of the Congo since 2018, mainly focusing on infectious diseases such as Ebola[19] and genetic factors influencing diet-induced neurodegenerative diseases.[20]

References

  1. ↑ "Eric Vilain to Lead Center for Genetic Medicine Research at Children's National Health System". Innovation District. 2017-02-06. Retrieved 2019-08-26.
  2. ↑ "Faculty Directory | The School of Medicine & Health Sciences | The George Washington University". www.gwumc.edu. Retrieved 2019-08-26.
  3. ↑ "Eric Vilain | Children's National". childrensnational.org. Retrieved 2019-08-26.
  4. ↑ Reardon, Sara (2016-05-12). "The spectrum of sex development: Eric Vilain and the intersex controversy". Nature News. 533 (7602): 160–163. Bibcode:2016Natur.533..160R. doi:10.1038/533160a. PMID 27172029.
  5. ↑ Pandika, Melissa. "The Modern Master of Sex". OZY. Retrieved 2019-08-26.
  6. 1 2 3 Reardon, Sara (2016-05-12). "The spectrum of sex development: Eric Vilain and the intersex controversy". Nature News. 533 (7602): 160–163. Bibcode:2016Natur.533..160R. doi:10.1038/533160a. PMID 27172029.
  7. ↑ Vilain, Eric; Jaubert, Francis; Fellous, Marc; McElreavey, Ken (January 1993). "Pathology of 46, XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor". Differentiation. 52 (2): 151–159. doi:10.1111/j.1432-0436.1993.tb00625.x. ISSN 0301-4681. PMID 8472885.
  8. ↑ McCabe, Edward R. B.; Maroteaux, Pierre; Kay, Mark A.; Desangles, Francois; Lecointre, Claudine; Le Merrer, Martine; Vilain, Eric (1999-12-01). "IMAGe, a New Clinical Association of Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies". The Journal of Clinical Endocrinology & Metabolism. 84 (12): 4335–4340. doi:10.1210/jcem.84.12.6186. ISSN 0021-972X. PMID 10599684.
  9. ↑ Arboleda, Valerie A.; Lee, Hane; Parnaik, Rahul; Fleming, Alice; Banerjee, Abhik; Ferraz-de-Souza, Bruno; Délot, Emmanuèle C.; Rodriguez-Fernandez, Imilce A.; Braslavsky, Debora (2012-05-27). "Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome". Nature Genetics. 44 (7): 788–792. doi:10.1038/ng.2275. ISSN 1061-4036. PMC 3386373. PMID 22634751.
  10. ↑ Hughes, Ieuan A.; Ahmed, S. Faisal; Houk, Christopher P.; Lee, Peter A. (2006-08-01). "Consensus Statement on Management of Intersex Disorders". Pediatrics. 118 (2): e488–e500. doi:10.1542/peds.2006-0738. ISSN 0031-4005. PMC 2082839. PMID 16882788.
  11. ↑ Délot, Emmanuèle C.; Papp, Jeanette C.; Sandberg, David E.; Vilain, Eric (June 2017). "Genetics of Disorders of Sex Development". Endocrinology and Metabolism Clinics of North America. 46 (2): 519–537. doi:10.1016/j.ecl.2017.01.015. ISSN 0889-8529. PMC 5714504. PMID 28476235.
  12. ↑ Marchant, Joanna (2011-04-14). "Women with high male hormone levels face sport ban". Nature. doi:10.1038/news.2011.237. ISSN 0028-0836.
  13. ↑ "Athletics: Semenya releases list of experts for battle with IAAF at..." Reuters. 2019-02-19. Retrieved 2019-08-26.
  14. ↑ Dewing, Phoebe; Shi, Tao; Horvath, Steve; Vilain, Eric (October 2003). "Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation". Molecular Brain Research. 118 (1–2): 82–90. doi:10.1016/s0169-328x(03)00339-5. ISSN 0169-328X. PMID 14559357.
  15. ↑ Dewing, Phoebe; Chiang, Charleston W.K.; Sinchak, Kevin; Sim, Helena; Fernagut, Pierre-Olivier; Kelly, Sabine; Chesselet, Marie-Francoise; Micevych, Paul E.; Albrecht, Kenneth H. (February 2006). "Direct Regulation of Adult Brain Function by the Male-Specific Factor SRY". Current Biology. 16 (4): 415–420. doi:10.1016/j.cub.2006.01.017. ISSN 0960-9822. PMID 16488877. S2CID 5939578.
  16. ↑ Bocklandt, Sven; Horvath, Steve; Vilain, Eric; Hamer, Dean H. (February 2006). "Extreme skewing of X chromosome inactivation in mothers of homosexual men". Human Genetics. 118 (6): 691–694. doi:10.1007/s00439-005-0119-4. ISSN 0340-6717. PMID 16369763. S2CID 1370892.
  17. ↑ Balter, Michael (2015-10-08). "Homosexuality may be caused by chemical modifications to DNA". Science | AAAS. Retrieved 2019-08-26.
  18. ↑ "Epidapo Lab | The GW School of Medicine & Health Sciences". smhs.gwu.edu. Retrieved 2019-08-26.
  19. ↑ Bramble, M. S.; Hoff, N.; Gilchuk, P.; Mukadi, P.; Lu, K.; Doshi, R. H.; Steffen, I.; Nicholson, B. P.; Lipson, A.; Vashist, N.; Sinai, C.; Spencer, D.; Olinger, G.; Wemakoy, E. O.; Illunga, B. K.; Pettitt, J.; Logue, J.; Marchand, J.; Varughese, J.; Bennett, R. S.; Jahrling, P.; Cavet, G.; Serafini, T.; Ollmann Saphire, E.; Vilain, E.; Muyembe-Tamfum, J. J.; Hensely, L. E.; Simmons, G.; Crowe Jr, J. E.; Rimoin, A. W. (2018). "ResearchGate". The Journal of Infectious Diseases. pp. 1929–1936. doi:10.1093/infdis/jiy453. PMC 6217721. PMID 30107445. {{cite web}}: Missing or empty |url= (help)
  20. ↑ Rwatambuga, F. A.; Ali, E. R.; Bramble, M. S.; Gosschalk, J. E.; Kim, Morris; Yandju, D. L.; Okitundu, L. A.; Boivin, M. J.; Banea, J. P.; Westaway, S. K.; Larry, D. (2020-12-06). "Motor control and cognition deficits associated with protein carbamoylation in food (cassava) cyanogenic poisoning: Neurodegeneration and genomic perspectives". Food and Chemical Toxicology. 148: 111917. doi:10.1016/j.fct.2020.111917. ISSN 1873-6351. PMC 7855927. PMID 33296712.
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