Eric Vilain

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Eric Vilain
Eric Vilain Photo (cropped).jpg
Vilain in 2019
Born1966 (age 57–58)
Paris, France
Alma mater
Known for Genetics of disorders/differences of sex development, biology of gender identity, biology of sexual orientation
Scientific career
Fields Genetics, endocrinology, sexual development
Institutions University of California, Los Angeles – David Geffen School of Medicine

Children’s National Medical Center George Washington University School of Medicine and Health Sciences

Contents

University of California, Irvine
Doctoral advisor Marc Fellous

Eric Vilain is a physician-scientist and professor in the fields of differences of sex development (DSDs) and precision medicine. He is the Associate Vice Chancellor for Scientific Affairs at the University of California, Irvine Health Affairs and also the director of the UCI Institute for Clinical and Translational Science. [1] He previously was 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. [2] [3] [4] 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. [5]

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. [6] 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 [7] 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 was 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 the 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. In 2022 Vilain became the Associate Vice Chancellor for Scientific Affairs at University of California, Irvine.

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. [7] 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. [8] 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. [9] [10]

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." [11] 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. [12]

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. [7] [13] In 2019, Vilain served as an expert witness defending Caster Semenya's right to compete as a woman in athletic competitions. [14]

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 [15] and studied the role the SRY gene plays in regulating adult brain function. [16] In 2006, his team, along with geneticist Dean Hamer, published research studying the linkage of gay males and markers on their mothers' X chromosome. [17] 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. [18] 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. [19] Vilain has been conducting global health research in the Democratic Republic of the Congo since 2018, mainly focusing on infectious diseases such as Ebola [20] and genetic factors influencing diet-induced neurodegenerative diseases. [21]

Related Research Articles

<span class="mw-page-title-main">5α-Reductase 2 deficiency</span> Medical condition

5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum.

<span class="mw-page-title-main">XY gonadal dysgenesis</span> Medical condition

XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty. The cause is a lack or inactivation of an SRY gene which is responsible for sexual differentiation. Pregnancy is sometimes possible in Swyer syndrome with assisted reproductive technology. The phenotype is usually similar to Turner syndrome (45,X0) due to a lack of X inactivation. The typical medical treatment is hormone replacement therapy. The syndrome was named after Gerald Swyer, an endocrinologist based in London.

<span class="mw-page-title-main">Sexual differentiation</span> Embryonic development of sex differences

Sexual differentiation is the process of development of the sex differences between males and females from an undifferentiated zygote. Sex determination is often distinct from sex differentiation; sex determination is the designation for the development stage towards either male or female, while sex differentiation is the pathway towards the development of the phenotype.

<span class="mw-page-title-main">Intersex medical interventions</span> Performed to modify atypical or ambiguous genitalia

Intersex medical interventions (IMI), sometimes known as intersex genital mutilations (IGM), are surgical, hormonal and other medical interventions performed to modify atypical or ambiguous genitalia and other sex characteristics, primarily for the purposes of making a person's appearance more typical and to reduce the likelihood of future problems. The history of intersex surgery has been characterized by controversy due to reports that surgery can compromise sexual function and sensation, and create lifelong health issues. The medical interventions can be for a variety of reasons, due to the enormous variety of the disorders of sex development. Some disorders, such as salt-wasting disorder, can be life-threatening if left untreated.

<span class="mw-page-title-main">History of intersex surgery</span>

The history of intersex surgery is intertwined with the development of the specialities of pediatric surgery, pediatric urology, and pediatric endocrinology, with our increasingly refined understanding of sexual differentiation, with the development of political advocacy groups united by a human qualified analysis, and in the last decade by doubts as to efficacy, and controversy over when and even whether some procedures should be performed.

<span class="mw-page-title-main">Sex-determining region Y protein</span> Protein that initiates male sex determination in therian mammals

Sex-determining region Y protein (SRY), or testis-determining factor (TDF), is a DNA-binding protein encoded by the SRY gene that is responsible for the initiation of male sex determination in therian mammals. SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype.

<span class="mw-page-title-main">XX male syndrome</span> Congenital condition where an individual with a 46,XX karyotype is male

XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. Synonyms for XX male syndrome include 46,XX testicular difference of sex development

Ovotesticular syndrome is a rare congenital condition where an individual is born with both ovarian and testicular tissue. It is one of the rarest DSDs, with only 500 reported cases. Commonly, one or both gonads is an ovotestis containing both types of tissue. Although it is similar in some ways to mixed gonadal dysgenesis, the conditions can be distinguished histologically.

Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. One type of gonadal dysgenesis is the development of functionless, fibrous tissue, termed streak gonads, instead of reproductive tissue. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.

<span class="mw-page-title-main">Sexual differentiation in humans</span> Process of development of sex differences in humans

Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. Sexual differentiation includes development of different genitalia and the internal genital tracts and body hair plays a role in sex identification.

Pseudohermaphroditism is an outdated term for when an individual's gonads were mismatched with their internal reproductive system and/or external genitalia. The term was contrasted with "true hermaphroditism", a condition describing an individual with both female and male reproductive gonadal tissues. Associated conditions includes Persistent Müllerian duct syndrome and forms of androgen insensitivity syndrome.

<span class="mw-page-title-main">17β-Hydroxysteroid dehydrogenase III deficiency</span> Rare autosomal recessive disorder causing impaired masculinisation

17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder of sex development. The impaired testosterone biosynthesis by 17β-hydroxysteroid dehydrogenase III, presents as atypical genitalia in affected males.

<span class="mw-page-title-main">Disorders of sex development</span> Medical conditions involving the development of the reproductive system

Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.

<span class="mw-page-title-main">SOX9</span> Transcription factor gene of the SOX family

Transcription factor SOX-9 is a protein that in humans is encoded by the SOX9 gene.

<span class="mw-page-title-main">Intersex</span> Atypical congenital variations of sex characteristics

Intersex people are individuals born with any of several sex characteristics, including chromosome patterns, gonads, or genitals that, according to the Office of the United Nations High Commissioner for Human Rights, "do not fit typical binary notions of male or female bodies".

<span class="mw-page-title-main">Morgan Carpenter</span> Intersex activist

Morgan Carpenter is a bioethicist, intersex activist and researcher. In 2013, he created an intersex flag, and became president of Intersex Human Rights Australia. He is now executive director. Following enactment of legislative protections for people with innate variations of sex characteristics in the Australian Capital Territory, Carpenter is a member of the Variations in Sex Characteristics Restricted Medical Treatment Assessment Board.

Peter Anthony Koopman is an Australian biologist best known for his role in the discovery and study of the mammalian Y-chromosomal sex-determining gene, Sry.

Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). Afterwards, if the family or individual wishes, they can partake in different management and treatment options for their conditions.

<span class="mw-page-title-main">Definitions of intersex</span>

Various criteria have been offered for the definition of intersex, including ambiguous genitalia, atypical genitalia, and differential sexual development. Ambiguous genitalia occurs in roughly 0.05% of all births, usually caused by masculinization or feminization during pregnancy, these conditions range from full androgen insensitivity syndrome to ovotesticular syndrome.

<span class="mw-page-title-main">Intersex healthcare</span> Healthcare for intersex people throughout their life

Intersex healthcare differs from the healthcare of endosex people due to the stigma towards and health needs of intersex people. Intersex healthcare is impacted by a history of concealing information from patients and medically unnecessary surgeries that continue to be performed. 1.7% of the general population is estimated to be intersex. Healthcare for intersex people can include treatments to improve the mental, cognitive, physical, and sexual health of intersex people. The need for and type of care can vary depending on one's intersex variation.

References

  1. ↑ "Dr. Eric Vilain Appointed AVC Scientific Affairs – UCI Health Affairs" . Retrieved 2024-02-29.
  2. ↑ "Eric Vilain to Lead Center for Genetic Medicine Research at Children's National Health System". Innovation District. 2017-02-06. Retrieved 2019-08-26.
  3. ↑ "Faculty Directory | The School of Medicine & Health Sciences | The George Washington University". www.gwumc.edu. Retrieved 2019-08-26.
  4. ↑ "Eric Vilain | Children's National". childrensnational.org. Archived from the original on 2019-08-26. Retrieved 2019-08-26.
  5. ↑ 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.
  6. ↑ Pandika, Melissa. "The Modern Master of Sex". OZY. Archived from the original on 2019-08-26. Retrieved 2019-08-26.
  7. 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  13. ↑ Marchant, Joanna (2011-04-14). "Women with high male hormone levels face sport ban". Nature. doi:10.1038/news.2011.237. ISSN   0028-0836.
  14. ↑ "Athletics: Semenya releases list of experts for battle with IAAF at..." Reuters. 2019-02-19. Retrieved 2019-08-26.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ 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.
  18. ↑ Balter, Michael (2015-10-08). "Homosexuality may be caused by chemical modifications to DNA". Science | AAAS. Retrieved 2019-08-26.
  19. ↑ "Epidapo Lab | The GW School of Medicine & Health Sciences". smhs.gwu.edu. Retrieved 2019-08-26.
  20. ↑ 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)
  21. ↑ 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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