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. 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. Jennifer Rossen, MD, pediatric ophthalmologist, Ann & Robert H. Lurie Children's Hospital of Chicago
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."
Pediatric experts reveal the 10 research areas set to shape child health