Monday, March 2, 2026 3/2/2026

Molecular Basis of Human Visual System Disorders

Award Number: R01EY022356
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/01/2025
PERIOD OF PERFORMANCE END DATE: 05/31/2029

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Molecular Basis of Human Visual System Disorders - Abstract The primary objective of this proposal is to enhance the molecular diagnosis rate and deepen our understanding of the molecular mechanisms underlying Retinitis Pigmentosa (RP). RP, the most prevalent form of retinal degeneration, affects 1 in 3,000 people worldwide. The genetics and pathways responsible for the disease are highly heterogeneous. Currently, approximately 25% of cases remain unexplained upon molecular mutation screen, representing one of the most significant gaps in our current knowledge of the disease. To address this challenge, we propose to systematically identify novel mutant alleles and genes that are overlooked by the current screening process through a combination of whole-genome sequencing and functional validation experiments. To achieve this goal, during our last funding period, we established a large collection of over 450 well-characterized RP patient families whose pathogenic mutations remain unassigned after screening for coding mutations in known retinal disease genes. Patients from these families are likely affected by mutations missed by current technologies, representing a well-characterized, valuable resource for identifying new mutations and disease-associated genes. During last funding period, whole exome sequencing has been performed for all unsolved probands, including 200 with whole-genome sequencing. Building on this work, our Specific Aims are: Specific Aim 1. Characterize the novel RP associated disease gene DDX41 Specific Aim 2. Unravel the full spectrum of mutations in unsolved RP patients Specific Aim 3. Identify and characterize novel RP disease genes Progress toward these goals is likely to identify multiple novel RP genes whose subsequent study will lead to new insights into disease mechanisms as well as lay the foundation for developing new diagnoses and treatment methods, including gene therapy. Importantly, the protocols and software tools developed from these aims, particularly noncoding mutation identification, will be applicable to other human diseases as well.


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 = $0 )
2026	2024	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	11	11/17/2025	COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2025 ( Subtotal = $552,833 )
2025	2025	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Vision Research	002	12	6/28/2025	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$552,833
2025	2024	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	11	6/27/2025	COMPETING CONTINUATION	$0
2025	2022	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	10	2/14/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $552,833

Issue Date FY: 2024 ( Subtotal = $562,985 )
2024	2024	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	11	5/31/2024	COMPETING CONTINUATION	$562,985
														Subtotal = $562,985

Issue Date FY: 2022 ( Subtotal = $479,500 )
2022	2022	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	10	3/25/2022	NON-COMPETING CONTINUATION	$479,500
														Subtotal = $479,500

Issue Date FY: 2021 ( Subtotal = $479,501 )
2021	2021	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	9	3/29/2021	NON-COMPETING CONTINUATION	$479,501
														Subtotal = $479,501

Issue Date FY: 2020 ( Subtotal = $494,331 )
2020	2020	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	8	4/10/2020	NON-COMPETING CONTINUATION	$494,331
														Subtotal = $494,331

Issue Date FY: 2019 ( Subtotal = $614,016 )
2019	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	002	7	9/23/2019	SUPPLEMENT FOR EXPANSION	$119,685
2019	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	7	4/8/2019	NON-COMPETING CONTINUATION	$494,331
2019	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	5	4/5/2019	EXTENSION WITH OR WITHOUT FUNDS	$0
														Subtotal = $614,016

Issue Date FY: 2018 ( Subtotal = $494,331 )
2018	2018	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	6	3/7/2018	COMPETING CONTINUATION	$494,331
														Subtotal = $494,331

Issue Date FY: 2017 ( Subtotal = $0 )
2017	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	5	12/27/2016	EXTENSION WITH OR WITHOUT FUNDS	$53,666
2017	2015	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	4	12/27/2016	NON-COMPETING CONTINUATION	-$53,666
														Subtotal = $0

Issue Date FY: 2016 ( Subtotal = $305,001 )
2016	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	5	5/19/2016	EXTENSION WITH OR WITHOUT FUNDS	$305,001
														Subtotal = $305,001

Issue Date FY: 2015 ( Subtotal = $376,644 )
2015	2015	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	4	6/15/2015	NON-COMPETING CONTINUATION	$376,644
														Subtotal = $376,644

Issue Date FY: 2014 ( Subtotal = $473,300 )
2014	2014	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	3	9/5/2014	SUPPLEMENT FOR EXPANSION	$96,656
2014	2014	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	3	6/2/2014	NON-COMPETING CONTINUATION	$376,644
														Subtotal = $473,300

Issue Date FY: 2013 ( Subtotal = $380,244 )
2013	2013	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	2	5/16/2013	NON-COMPETING CONTINUATION	$380,244
														Subtotal = $380,244

Issue Date FY: 2012 ( Subtotal = $377,757 )
2012	2012	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	1	5/7/2012	NEW	$377,757
														Subtotal = $377,757

Grand Total All Awards = $5,590,443

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Molecular Basis of Human Visual System Disorders

Award Number: R01EY022356

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 06/01/2025

PERIOD OF PERFORMANCE END DATE: 05/31/2029

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