Intellectual and Developmental Disabilities Research Center


Vilain, Eric, M.D., Ph.D.


Genetics of sex determination and development of the human reproductive system


  • Chair, Medical Genetics Clinic
  • Director, Center for Gender-Based Biology
  • Professor, Pediatrics
  • Urology
  • Human Genetics
  • Member, Brain Research Institute
  • CTSI
  • Cell & Developmental Biology GPB Home Area
  • Genetics & Genomics GPB Home Area
  • Neuroscience GPB Home Area


The research goals of the Vilain laboratory are to understand which molecules are responsible for the differences between male and female brains. The classical view is that testosterone and other similar steroids secreted by the gonads are the only factors involved in the masculinization of the brain.

Vilain and colleagues are exploring an alternative possibility. Sex differences in behavior may be caused in part by genetic factors influencing the development of the brains. They are searching for the genes responsible for brain sexual differences by determining which genes are differentially expressed between male and female brain, and where in the brain these genes are expressed. They are creating mouse models in which female mice express male genes only in their brains, in order to elucidate the role of these genes in sexual behavior.


  1. Chen, Y, Dawes, R, Kim, HC, Stenton, SL, Walker, S, Ljungdahl, A et al.. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024; :. doi: 10.1101/2024.04.07.24305438. PubMed PMID:38645094 PubMed Central PMC11030480.
  2. Cui, Y, Ye, W, Li, JS, Li, JJ, Vilain, E, Sallam, T et al.. A genome-wide spectrum of tandem repeat expansions in 338,963 humans. Cell. 2024;187 (9):2336-2341.e5. doi: 10.1016/j.cell.2024.03.004. PubMed PMID:38582080 PubMed Central PMC11065452.
  3. Parivesh, A, Délot, E, Reyes, A, Ryan, J, Bhattacharya, S, Harley, V et al.. Reprograming skin fibroblasts into Sertoli cells: a patient-specific tool to understand effects of genetic variants on gonadal development. Biol Sex Differ. 2024;15 (1):24. doi: 10.1186/s13293-024-00599-y. PubMed PMID:38520033 PubMed Central PMC10958866.
  4. Cools, M, Cheng, EY, Hall, J, Alderson, J, Amies Oelschlager, AM, Balen, AH et al.. Multi-stakeholder opinion statement on the care of individuals born with differences of sex development: common ground and opportunities for improvement. Horm Res Paediatr. 2024; :. doi: 10.1159/000536296. PubMed PMID:38310850 .
  5. LoTempio, J, Delot, E, Vilain, E. Benchmarking long-read genome sequence alignment tools for human genomics applications. PeerJ. 2023;11 :e16515. doi: 10.7717/peerj.16515. PubMed PMID:38130927 PubMed Central PMC10734412.
Search PubMed