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Characterization of DHDDS RP59 Knockin Models of Retinitis Pigmentosa

Award Number: F31EY032764
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 03/15/2021
PERIOD OF PERFORMANCE END DATE: 03/14/2026

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Characterization of DHDDS RP59 Knockin Models of Retinitis Pigmentosa - Project Summary/Abstract Retinitis pigmentosa (RP) is a heterogeneous group of disorders that cause retinal degeneration. To date, mutations in more than 58 genes have been linked to classic retinitis pigmentosa, and collectively all forms of inherited retinal dystrophies involves at least 300 genes. My studies are focused on retinitis pigmentosa-59 (RP59), a non-syndromic autosomal recessive form of RP caused by mutations in the dehydrodolichyl diphosphate synthase (DHDDS) gene, localized to exon 3 on chromosome 1p36.11. The most prevalent mutation is K42E, while T206A and R98W also have been reported. We generated a murine Dhdds K42E knock- in mouse model using CRISPR/Cas9 gene editing technology. Preliminary data shows significant reduction of ERG b-wave amplitudes and we have reported marked GFAP up-regulation, without retinal degeneration or decreased protein N-glycosylation. This suggests that defective DHDDS-dependent retinal degeneration may be more complicated than simply a loss-of-function mechanism due to altered protein glycosylation. To better understand the basis for selective retinal pathology associated with RP59 mutations, we plan to characterize the DhddsK42E/K42E knock-in mouse anatomically and physiologically. Additionally, we will create and analyze two new models of DHDDS-related inherited retinal disease, Dhdds T206A/T206A and DhddsT206A/K42E. Studying the retina in these mouse models will give us insight into the pathophysiology of this inherited disorder, and may lead to novel treatment options for this disorder.


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 = $41,338 )
2025	2025	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH STREET	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	001	5	7/31/2025	NON-COMPETING CONTINUATION	$564
2025	2025	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH STREET	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	000	5	3/13/2025	NON-COMPETING CONTINUATION	$40,774
														Subtotal = $41,338

Issue Date FY: 2024 ( Subtotal = $40,774 )
2024	2024	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH STREET	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	001	4	6/6/2024	NON-COMPETING CONTINUATION	$1,280
2024	2024	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH STREET	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	000	4	2/23/2024	NON-COMPETING CONTINUATION	$39,494
														Subtotal = $40,774

Issue Date FY: 2023 ( Subtotal = $39,494 )
2023	2023	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH ST	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	000	3	2/16/2023	NON-COMPETING CONTINUATION	$39,494
														Subtotal = $39,494

Issue Date FY: 2022 ( Subtotal = $38,552 )
2022	2022	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH ST	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	000	2	2/14/2022	NON-COMPETING CONTINUATION	$37,836
2022	2022	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH ST	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	001	2	6/7/2022	NON-COMPETING CONTINUATION	$716
														Subtotal = $38,552

Issue Date FY: 2021 ( Subtotal = $37,836 )
2021	2021	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH ST	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	000	1	4/6/2021	NEW	$37,836
2021	2021	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH ST	BIRMINGHAM	AL	35294	JEFFERSON	USA	Vision Research	001	1	4/6/2021	NEW	$0
														Subtotal = $37,836

Grand Total All Awards = $197,994

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Characterization of DHDDS RP59 Knockin Models of Retinitis Pigmentosa

Award Number: F31EY032764

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 03/15/2021

PERIOD OF PERFORMANCE END DATE: 03/14/2026

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