Jennifer Landau Rossen, MD, from Lurie Children's Hospital of Chicago Awarded $89,905 Knights Templar Eye Foundation Grant for Childhood Cataracts Research

Jennifer Landau Rossen, MD, from Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, was awarded an $89,905 grant for Improving Visual Outcomes and Genetic Diagnosis for Children with Cataracts Secondary to Crystallin Gene Variants.

Cataracts affecting children are a major cause of vision loss. They can be an isolated eye finding or associated with other systemic health problems. Genetic testing is a useful tool for determining eye or vision complications due to the cataracts, as well as determining if a child needs additional medical screening or treatment. However, there is currently no standardization for genetic testing for pediatric cataracts, meaning that genetic testing labs do not analyze the same genes and they interpret identified variants, or changes in these genes, differently. In order to standardize genetic testing and ultimately improve its accuracy for children with cataracts, associations between genes and specific eye findings (gene-disease associations) need to be better characterized. In addition, guidelines regarding how to assess the pathogenicity of gene variants also have to be established (variant curation). Unfortunately, creating these standards is a slow process in the current workflows.

To expedite the development of guidelines, Dr. Rossen will complete gene-disease associations and variant curation guidelines for the thirteen Crystallin genes, which are associated with approximately half of all isolated pediatric cataracts, by standard methods and compare them to an accelerated Artificial Intelligence (AI)-supported workflow that she will create. The AI-supported workflow, once validated, will be employed for other ocular gene curation work. Further, Dr. Rossen will establish a prospective registry for children with crystallin-associated cataracts to better predict vision and eye disease outcomes. Her work will improve genetic diagnosis and subsequent care and treatment for children with cataracts.