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Evaluating Barriers to and Clinical Outcomes of Genetic Testing in Patients with Pediatric Cataracts

Award Number: K23EY038334
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 04/01/2026
PERIOD OF PERFORMANCE END DATE: 03/31/2031

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Evaluating Barriers to and Clinical Outcomes of Genetic Testing in Patients with Pediatric Cataracts - PROJECT SUMMARY The purpose of this K23 proposal is to facilitate Dr. Jennifer Rossen, a pediatric ophthalmologist, for a career as an independent surgeon-scientist focused on improving ocular and non- ocular outcomes for patients with inherited pediatric cataracts. This proposal includes intensive mentorship, training, and research activities that will enable Dr. Rossen to build on her existing strong foundation in ocular genetics research to achieve the following training goals: 1) acquire skills, knowledge and collaborations in implementation science, 2) develop skills and knowledge in quantitative science methods, 3) obtain advanced training in administering prospective clinical trials, 4) strengthen grantsmanship skills, and 5) grow multidisciplinary and multi-institutional research collaborations. Pediatric cataracts affect 314,000 children annually worldwide, are often inherited, and can be associated with over 200 syndromes. Some syndromes are associated with treatable diseases in which cataracts can be the presenting symptom. However, due to no standardization and low rates of genetic testing for pediatric cataracts, there are likely many missed and delayed diagnoses of syndromes associated with treatable diseases. The overall objective of this project is to understand clinicians’ genetic testing practices for pediatric cataracts, develop a resource of pediatric cataract genotype-phenotype associations, and evaluate the efficacy of genetic testing to identify treatable diseases in patients with pediatric cataracts. Dr. Rossen will achieve these objectives through the following specific aims: 1) evaluate clinicians’ current practices of genetic testing for pediatric cataracts through focus groups, 2) create and maintain an artificial intelligence-assisted web-based open access database of pediatric cataract genotype-phenotype associations, and 3) evaluate the effectiveness of genetic testing to identify treatable diseases for patients with pediatric cataracts via retrospective and prospective studies. Results will provide information necessary to develop an outreach effort using implementation science methods to improve barriers to accessing genetic testing. It will also serve as the basis for an R01 award to fund the development of a longitudinal study to evaluate the ocular and non-ocular clinical outcomes of patients with pediatric cataracts after receiving expanded genetic testing with improved, standardized analysis. This future work will allow for a deeper understanding of genotype-phenotype associations. This will enable precision medicine to predict and treat associated ocular and systemic co-morbidities based on genetic testing results to improve visual outcomes and overall health of patients with pediatric cataracts.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $200,002 )
2026	2026	ANN & ROBERT H LURIE CHILDRENS HOSPITAL OF CHICAGO	225 E CHICAGO AVE	CHICAGO	IL	60611	COOK	USA	Vision Research	000	1	4/2/2026	NEW	$200,002
														Subtotal = $200,002

Grand Total All Awards = $200,002

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Evaluating Barriers to and Clinical Outcomes of Genetic Testing in Patients with Pediatric Cataracts

Award Number: K23EY038334

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 04/01/2026

PERIOD OF PERFORMANCE END DATE: 03/31/2031

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