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
- Monlong, J, Chen, X, Barseghyan, H, Rowell, WJ, Negi, S, Nokoff, N et al.. Long-read sequencing resolves the clinically relevant CYP21A2 locus, supporting a new clinical test for Congenital Adrenal Hyperplasia. medRxiv. 2025; :. doi: 10.1101/2025.02.07.25321404. PubMed PMID:39990550 PubMed Central PMC11844570.
- Zerafati-Jahromi, G, Oxman, E, Hoang, HD, Charng, WL, Kotla, T, Yuan, W et al.. Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet. 2025; :. doi: 10.1016/j.ajhg.2025.01.001. PubMed PMID:39879987 .
- Negi, S, Stenton, SL, Berger, SI, Canigiula, P, McNulty, B, Violich, I et al.. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. Am J Hum Genet. 2025;112 (2):428-449. doi: 10.1016/j.ajhg.2025.01.002. PubMed PMID:39862869 PubMed Central PMC11866955.
- Dawood, M, Heavner, B, Wheeler, MM, Ungar, RA, LoTempio, J, Wiel, L et al.. GREGoR: Accelerating Genomics for Rare Diseases. ArXiv. 2024; :. . PubMed PMID:39764392 PubMed Central PMC11702807.
- Stenton, SL, Laricchia, K, Lake, NJ, Chaluvadi, S, Ganesh, V, DiTroia, S et al.. Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. medRxiv. 2024; :. doi: 10.1101/2024.12.22.24319370. PubMed PMID:39763565 PubMed Central PMC11703311.