Elena Semina, PhD

Education
1987 MS, Department of Biology, Moscow State University, Moscow, Russia
1993 PhD, National Center of Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
1993-1994 Postdoctoral Researcher, National Center of Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia
1994-1997 Postdoctoral Associate, Department of Pediatrics, University of Iowa, Iowa City, Iowa

Research Interests
Research in Elena Semina’s laboratory 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.  They seek to better understand the mechanisms behind these conditions through the identification of causative mutations/genes in affected pedigrees and characterization of their function/molecular pathways in animal models.  Genetic networks of particular interest include pathways associated with homeodomain-containing transcription factors PITX2, PITX3, and PAX6.  A significant focus in recent years has been on identification of novel factors with resulted in the discovery of CRYBA2 and MAB21L2 mutations in congenital cataracts and coloboma, correspondingly.  In addition to providing an insight into the disease process, identification and studies of disease-associated human genes helps us to better understand normal embryonic development.  For affected families, identification of causative mutations provides a specific diagnosis, enables precise recurrence risk calculations, as well as identification of possible other associated health risks.

Human Developmental Genetics Laboratory

Publications
PubMed Listing of Publications