Monday, November 3, 2025 11/3/2025

Optimizing genetic risk models for primary open-angle glaucoma through expanded population genomic analysis

Award Number: R01EY033829
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 07/01/2022
PERIOD OF PERFORMANCE END DATE: 06/30/2027

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Optimizing genetic risk models for primary open-angle glaucoma through expanded population genomic analysis - Glaucoma is a leading cause of irreversible vision loss worldwide and is a complex disease influenced by genetics. POAG, the most common subtype of glaucoma, often presents earlier and progresses faster in individuals from continental American and African genetic ancestry and with higher proportions. Large-scale genetic studies to date, which inform clinical genetic risk models, prioritize continental European genetic ancestry, thereby limiting their potential to inform early detection and clinical management. This narrowed focus in POAG genetic studies reduces both the accuracy and applicability of existing POAG polygenic risk scores (PRS) and limits development of new PRS that accurately incorporate the range of genetic variation present in individuals with American, African, and European continental genetic ancestry - i.e. the majority of individuals at risk for POAG. This study will enhance risk prediction for POAG by bringing together and harmonizing clinical and genetic data from the largest worldwide available datasets of POAG case-control information from populations with American, African, and European genetic ancestry with three aims. In Aim 1, we will conduct meta-analyses of existing genome-wide association studies (GWAS) to identify and characterize novel POAG loci. In Aim 2, we will leverage admixture mapping to identify genomic regions where continental genetic ancestry is associated with POAG risk. Significant loci from Aims 1 and 2 will be fine-mapped and evaluated for selection signatures to improve resolution of causal variants. In Aim 3, we will develop and optimize ancestry-informed PRS for POAG classification and clinically-relevant POAG endophenotypes. This project will enhance understanding of POAG genetics across genetic backgrounds and develop risk prediction tools that more accurately reflect the range of genetic variation present in African, American, and European ancestry groups. These efforts will advance the potential for personalized risk assessment, early detection, and clinical management of POAG.


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: 2025 ( Subtotal = $748,246 )
2025	2025	EAST CAROLINA UNIVERSITY	1000 E 5TH ST	GREENVILLE	NC	27858	PITT	USA	Vision Research	001	4	8/5/2025	NON-COMPETING CONTINUATION	$688,777
2025	2024	EAST CAROLINA UNIVERSITY	1000 E 5TH ST	GREENVILLE	NC	27858	PITT	USA	Vision Research	000	3	10/24/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$59,469
														Subtotal = $748,246

Issue Date FY: 2024 ( Subtotal = $687,028 )
2024	2024	EAST CAROLINA UNIVERSITY	1000 E 5TH ST	GREENVILLE	NC	27858	PITT	USA	Vision Research	001	3	7/30/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$687,028
2024	2024	EAST CAROLINA UNIVERSITY	1000 E 5TH ST	GREENVILLE	NC	27858	PITT	USA	Vision Research	006	3	9/16/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$920,594
2024	2024	EAST CAROLINA UNIVERSITY	1000 E 5TH ST	GREENVILLE	NC	27858	PITT	USA	Vision Research	002	3	8/5/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$0
2024	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	005	2	9/16/2024	SUPPLEMENT FOR EXPANSION	-$138,671
2024	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	004	2	9/16/2024	NON-COMPETING CONTINUATION	-$638,677
2024	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	000	2	7/29/2024	NON-COMPETING CONTINUATION	$0
2024	2022	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	003	1	9/16/2024	NEW	-$143,246
														Subtotal = $687,028

Issue Date FY: 2023 ( Subtotal = $777,348 )
2023	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	001	2	7/6/2023	SUPPLEMENT FOR EXPANSION	$138,671
2023	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	000	2	6/30/2023	NON-COMPETING CONTINUATION	$638,677
														Subtotal = $777,348

Issue Date FY: 2022 ( Subtotal = $676,377 )
2022	2022	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Vision Research	000	1	6/10/2022	NEW	$676,377
														Subtotal = $676,377

Grand Total All Awards = $2,888,999

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Optimizing genetic risk models for primary open-angle glaucoma through expanded population genomic analysis

Award Number: R01EY033829

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 07/01/2022

PERIOD OF PERFORMANCE END DATE: 06/30/2027

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