About the Lab
The Gender-Based Biology and Precision Medicine research group explores the impact of genetic changes on human development in health and disease. Eric Vilain, M.D., Ph.D., and his team members have a long-standing interest in the genetics of sexual development, focusing on the molecular mechanisms of gonad development, as well as on the genetic determinants of brain sexual differentiation, including sexual orientation and gender identity. Together, they have identified a large number of mutations in sex-determining genes and developed animal models with atypical sexual development. The team has published extensively in the fields of genetics and endocrinology and is also active in the field of global health.
Translating genomics to the clinical diagnosis of disorders/differences of sex developmentParivesh A, Barseghyan H, Délot E, Vilain E PMID: 30999980; PMCID: PMC7382024. Curr Top Dev Biol 134:317-375. doi: 10.1016/bs.ctdb.2019.01.005. Epub March (2019)
Genetics of Disorders of Sex Development: The DSD-TRN ExperienceDélot EC, Papp JC; DSD-TRN Genetics Workgroup, Sandberg DE, Vilain E PMID: 28476235; PMCID: PMC5714504. Endocrinol Metab Clin North Am 46(2):519-537. doi: 10.1016/j.ecl.2017.01.015. Epub June (2017)
Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosisBarseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E PMID: 29070057 Genome Med 9(1):90 October (2017)
Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor CellsBramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E PMCID: PMC4074311 Sci Rep 6:36916 (2016)
Mutant Cohesin in Premature Ovarian FailureCaburet S, Arboleda, VA, Llano, E,. Overbeek PA, Barbero, Oka K, Harrison W, Vaiman, D, Ben-Neriah Z, García-Tuñón I, Fellous, M, Pendás, AM, Veitia, RA, Vilain E PMCID: PMC4068824 New Engl J Med 370:943-949 (2014)