A pediatric ophthalmologist at Ann & Robert H. Lurie Children’s Hospital of Chicago has received a $1 million, five-year grant from the National Institutes of Health/National Eye Institute to investigate the genetics of cataracts in children.
Jennifer Rossen will use the NIH/NEI funding to study candidate genes linked to pediatric cataracts and develop a comprehensive, AI-assisted, web-based, open access database of genes and associated diseases. The project aims to improve genetic testing, support earlier diagnosis of related inherited syndromes, and improve clinical outcomes for children with cataracts.
Pediatric cataracts are often inherited and can be associated with more than 200 syndromes. In some cases, cataracts may be the first visible sign of an underlying systemic condition – including conditions that may be treatable if detected early.
“Cataracts in children may be the first sign of an underlying treatable inherited syndrome, and yet genetic testing is seldom used,” Rossen said. “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.”
As part of the project, Rossen will evaluate current clinical practice patterns around genetic testing in children with cataracts. The research will examine inconsistencies in testing approaches, barriers that may limit access, and how effectively genetic testing can identify treatable inherited diseases in pediatric cataract patients.
The work also addresses a gap in ocular genetics. According to Rossen, much of the field has focused on inherited retinal diseases, while cataracts have received comparatively little attention. “I am dedicating my career to advancing pediatric cataract genetics,” added Rossen, “in order to improve ocular and systemic outcomes for patients.”
Lurie Children’s said the research will be conducted through Stanley Manne Children’s Research Institute, the hospital’s research arm. The hospital is the pediatric training ground for Northwestern University Feinberg School of Medicine and is ranked among the nation’s top children’s hospitals by U.S. News & World Report.
Source: News Medical.
