Elena Semina, PhD

Genes involved in embryonic development, with particular focus on ocular and craniofacial development.

Our research focuses on a broad spectrum of developmental ocular conditions ranging from anophthalmia and microphthalmia to anterior segment dysgenesis, glaucoma, and cataract, both isolated and syndromic. We seek to better understand the mechanisms behind these potentially debilitating conditions through the identification of causative mutations/genes in affected human pedigrees and characterization of their function and molecular pathways in cell and animal models. Characterization of factors involved in human disease leads to better understanding of the processes required for normal embryonic development in humans as well as other species. For families and their clinicians, identification of the disease-causing mutation supplies important information by providing a specific diagnosis, enabling more precise determination of recurrence risks, and identifying associated health risks which may need to be monitored.