Jennifer Rossen, MD , a pediatric ophthalmologist at Ann & Robert H. Lurie Children’s Hospital of Chicago, recently received a $1 million five-year grant from the National Institutes of Health/National Eye Institute (NIH/NEI) to study the genetics of cataracts in children .
Pediatric cataracts are often inherited and can be associated with over 200 syndromes. Dr. Rossen will evaluate all candidate genes for pediatric cataracts to develop a comprehensive AI-assisted, web-based, open access database of genes along with potential associated diseases. Her research aims to improve genetic testing and clinical outcomes for children with cataracts.
“Cataracts in children may be the first sign of an underlying treatable inherited syndrome, and yet genetic testing is seldom used,” said Dr. Rossen. “The goal of my work is to help standardize and expand availability of genetic testing for pediatric cataracts, so patients with underlying inherited treatable diseases are identified and offered proper screening and treatment.”
Dr. Rossen will evaluate current clinicians' practice patterns in genetic testing of children with cataracts and identify any inconsistencies and barriers to testing. She also will assess how well genetic testing can identify treatable diseases in patients with pediatric cataracts.
“Currently the field of ocular genetics is mostly focused on retinal diseases, and cataracts have not received much attention,” said Dr. Rossen. “I am dedicating my career to advancing pediatric cataract genetics, in order to improve ocular and systemic outcomes for patients.”
Ann & Robert H. Lurie Children’s Hospital of Chicago is a nonprofit organization committed to providing access to exceptional care for every child. It is the only independent, research-driven children’s hospital in Illinois and one of less than 35 nationally. This is where the top doctors go to train, practice pediatric medicine, teach, advocate, research and stay up to date on the latest treatments. Exclusively focused on children, all Lurie Children’s resources are devoted to serving their needs. Research at Lurie Children’s is conducted through Stanley Manne Children’s Research Institute, which is focused on improving child health, transforming pediatric medicine and ensuring healthier futures through the relentless pursuit of knowledge. Lurie Children’s is the pediatric training ground for Northwestern University Feinberg School of Medicine. It is ranked as one of the nation’s top children’s hospitals by U.S. News & World Report .