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
- Nijim, S, Kim, M, Denish, M, Gonzalez, MV, Zinski, J, Rieubland, C et al.. Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND). Genet Med. 2026; :102642. doi: 10.1016/j.gim.2026.102642. PubMed PMID:42417140 .
- Leon Tenorio, AA, Sugio, T, Cheng, J, Bonner, DE, Esfahani, MS, Kasinathan, S et al.. DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade. ACR Open Rheumatol. 2026;8 (2):e70184. doi: 10.1002/acr2.70184. PubMed PMID:42396794 PubMed Central PMC12928082.
- de Oliveira, AC, Kang, Z, Alexander, A, Vieira, ALP, Junior, AS, Lima, A et al.. Optimizing developmental outcomes in premature infants through a multidisciplinary approach to care. Pediatr Res. 2026; :. doi: 10.1038/s41390-026-05070-9. PubMed PMID:42310134 .
- Ferrasse, A, Mendez, R, Gorzynski, JE, Reuter, C, Carter, JN, Blas, M et al.. Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing. Genome Biol. 2026;27 (1):. doi: 10.1186/s13059-026-04137-4. PubMed PMID:42298673 PubMed Central PMC13267750.
- Heavner, BD, Wheeler, MM, Bengtsson, JD, Carvalho, CM, Cheung, WA, Conomos, MP et al.. Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset. bioRxiv. 2026; :. doi: 10.64898/2026.05.15.725546. PubMed PMID:42239344 PubMed Central PMC13228420.