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Genetic Sequencing to Identify Causes of Pediatric Cataracts

By Maureen Mack

Oct. 18, 2013

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The Medical College of Wisconsin received a two-year, $412,500 grant from the National Institutes of Health’s National Eye Institute to study the genes associated with pediatric cataracts.

Elena V. Semina, PhD, professor of pediatrics and cell biology, neurobiology and anatomy, and an investigator at the Children’s Hospital of Wisconsin Research Institute, is the primary investigator of the grant.

While pediatric cataracts are fairly rare (between one and 15 per 10,000 births), they may interfere with normal visual development and in some cases can cause permanent blindness. Genetic studies have identified mutations in numerous genes associated with cataracts, but many cases are still awaiting molecular diagnosis.

In this project, researchers will use whole exome sequencing to identify causative mutations in both known and novel genes to facilitate characterization and classification of pediatric cataracts at a molecular level. Newly identified genes will be studied in additional patients and animal models to verify their involvement in cataract. The results of this project will provide a better understanding of eye development and will likely identify new causes of human ocular conditions like cataracts, which may lead to new diagnostic and treatment opportunities.

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