Dr. Elena Semina

Biography

Elena Semina is a Professor and Chair of the Division of Developmental Biology in the Department of Pediatrics at the Medical College of Wisconsin. She has a comprehensive background in ocular developmental biology, focusing on a wide spectrum of developmental ocular conditions such as anophthalmia, microphthalmia, anterior segment dysgenesis, glaucoma, and cataracts. Her research aims to understand the mechanisms underlying these conditions, including the identification of causative mutations and the characterization of affected pedigrees. She employs animal models to explore function and molecular pathways associated with genetic networks, particularly in relation to homeodomain-containing transcription factors like PITX2, PITX3, and PAX6. In recent years, her work has led to significant discoveries, including the identification of CRYBA2 and MAB21L2 mutations linked to congenital cataracts and coloboma. Furthermore, her research contributes to understanding disease processes and provides insights into embryonic development, offering precise diagnosis and recurrence risk calculations for affected families.

Research Interests

Experience