Research
Genetics of sex determination and development of the human reproductive system
Appointments
- 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
Biography
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.
Publications
- Hu, K, Huang, K, Xu, X, Hamilton, BR, Rozenštoka, S, Pigozzi, F et al.. Case Report: Integrated physiological and performance profiling of an elite athlete with differences of sex development. Front Sports Act Living. 2026;8 :1906817. doi: 10.3389/fspor.2026.1906817. PubMed PMID:42973661 PubMed Central PMC13724393.
- Gogate, N, Jolly, A, Rosenfeld, JA, Bahena-Carbajal, P, Carrasco, D, Bernstein, JA et al.. Domain-associated phenotypic patterns with MACF1 variants. Genet Med. 2026; :102776. doi: 10.1016/j.gim.2026.102776. PubMed PMID:42937053 .
- Yacobi-Bach, M, Hagin, R, Levy Lando, B, Délot, E, Vilain, E, Kępczyński, Ł et al.. Recurring and isolated intronic FGFR1 variants as an underdiagnosed cause of congenital hypogonadotropic hypogonadism. J Endocr Soc. 2026;10 (11):bvag234. doi: 10.1210/jendso/bvag234. PubMed PMID:42890469 PubMed Central PMC13673266.
- Pitsava, G, Bluske, K, Barrick, R, Dios, I, Duong, C, Blanco, K et al.. Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases. medRxiv. 2026; :. doi: 10.64898/2026.09.09.26362331. PubMed PMID:42818873 PubMed Central PMC13622755.
- Spillmann, RC, Walley, N, Schoch, K, Mikati, MA, Jobanputra, V, Shea, P et al.. Not the end of the road: Achieving diagnoses following non-diagnostic exome sequencing: experiences at a clinical site of the Undiagnosed Diseases Network. Genet Med. 2026; :102736. doi: 10.1016/j.gim.2026.102736. PubMed PMID:42803155 .