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
- Stewart, R, Ezell, KM, Bell, DS, Corner, B, McMinn, A, Cogan, JD et al.. Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism. Am J Med Genet A. 2025; :e64233. doi: 10.1002/ajmg.a.64233. PubMed PMID:40838347 .
- Kobren, SN, Moldovan, MA, Reimers, R, Traviglia, D, Li, X, Barnum, D et al.. Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations. Nat Commun. 2025;16 (1):7267. doi: 10.1038/s41467-025-61712-2. PubMed PMID:40770127 PubMed Central PMC12328722.
- Roxon, J, Dumont, MS, Vilain, E, Sofonea, MT, Pellenq, RJ. Urban environmental and population factors as determinants of COVID-19 severity: A spatially-resolved probabilistic modeling approach. PLOS Digit Health. 2025;4 (7):e0000921. doi: 10.1371/journal.pdig.0000921. PubMed PMID:40680059 PubMed Central PMC12274012.
- Dore, R, Chang, CT, Declève, A, Brunori, G, Ludlam, WG, Huang, A et al.. ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy. Genet Med. 2025;27 (9):101506. doi: 10.1016/j.gim.2025.101506. PubMed PMID:40576023 PubMed Central PMC12260708.
- Fazal, S, Dashnow, H, Dohrn, MF, Raposo, J, Hiatt, L, Danzi, MC et al.. A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort. Genet Med. 2025;27 (8):101462. doi: 10.1016/j.gim.2025.101462. PubMed PMID:40417743 PubMed Central PMC12318663.