The human eye formation requires extraordinary coordination of various developmental processes. The conservation of developmental steps in vertebrates suggests possible common genetic mechanisms. Genetic diseases involving the eye represent a leading cause of blindness in children and adults. During the last decades, there has been an exponential increase in genetic studies of ocular disorders. Our laboratory studies a variety of human ocular disorders including anophthalmia/microphthalmia/coloboma, Axenfeld-Rieger syndrome, Peters Plus syndrome, various forms of anterior segment dysgenesis as well as congenital and juvenile glaucoma and cataracts. We actively utilize whole exome and whole genome sequencing to identify causative genes, as well as animal studies for functional characterization of the identified variants. The talk will present some examples of these studies as well as value of genetic tests for affected families and their health care providers
Advanced in clinical and bench research in ophthalmology has produced multiple new treatment options for a variety of ocular diseases. New technology, including the fast growing field of ocular imaging, is been used to further understand eye anatomy and pathology. Progress in the field of ocular surgery has introduced new techniques and better outcomes. The clinical and research environment is complex; issues related to ethics, quality improvement and new technology affect all eye care providers. The Eye Institute has, as one of its mission, the goal of being at the forefront of research, clinical care and education. Our goal is to educate the academic and community eye care providers, residents, researchers and medical students on the best and newest clinical and surgical treatments, cutting edge research and important non-clinical topics available in the field.
- Community eye care professionals
- Full time faculty
- Fellow ophthalmologists
- Ophthalmic photographers
At the conclusion of this activity, I will be able to:
- To provide information about several human ocular syndromes and their causative genetic factors
- To present current methods of causative gene identification (whole exome/genome sequencing, functional studies
- To describe benefits of genetic tests to families and their health care providers
Elena Semina, PhD
Chair, Division of Developmental Biology
Medical College of Wisconsin
In accordance with the ACCME® Standards for Commercial Support Number 6, all in control of content disclosed any relevant financial relationships. These relationships were reviewed via the MCW conflict of interest resolution process and resolved
- 1.00 AMA PRA Category 1 Credit(s)™AMA PRA Category 1 Credit(s)™
- 1.00 Hours of ParticipationHours of Participation credit.