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Genetics of early onset retinal diseases

Award Number: R01EY018571
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 12/01/2007
PERIOD OF PERFORMANCE END DATE: 07/31/2027

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Genetics of early onset retinal diseases - Abstract The goal of this project is to improve the molecular diagnosis rate and better understand the molecular mechanisms of early onset cone inherited retinal degeneration (eocIRD) diseases. As human heavily relies on cone vision for the activities, degeneration of cone photoreceptors has significant impact on their ability to perform daily routine. Unfortunately, the current molecular diagnosis rate of eocIRD, such as cone rod dystrophy (COD) and cone rod dystrophy (CRD), is significantly lower that of rod degeneration IRDs such as retinitis pigmentosa. More than 50% COD and CRD remain unassigned even upon screening of all IRD associated genes, highlighting a significant gap in our knowledge of the disease. To overcome this challenge, we propose to systematically identify novel genes and mutant alleles that are missed by current screen process through a combination of short and long read whole genome sequencing and functional validation experiments. To achieve this goal, we have established a large collection of over 1,500 well-characterized, unrelated COD, CRD, and LCA patient families. Screens for mutations in known inherited retinal disease genes led to the identification of causal mutations in about 900 probands, leaving about 570 patient families unsolved. Patients from these families are likely to due to mutations missed by current technology, representing a well characterized, rich resource for identifying new mutations and disease associated genes. Whole exome sequencing has been performed for all unsolved probands, including 300 with whole genome sequencing. Building on this work, our Specific Aims are: Specific Aim 1. Characterize the novel eocIRD associated gene TLCD3B Specific Aim 2. Investigate the full spectrum of mutations in unsolved patients Specific Aim 3. Identify and perform functional studies of novel candidate disease genes Progress toward these goals is likely to lead to new insights into disease mechanisms through studies of novel eocIRD disease genes and lay the foundation for developing new diagnoses and treatment methods. 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 = $429,275 )
2026	2026	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Vision Research	000	18	8/11/2026	NON-COMPETING CONTINUATION	$429,275
														Subtotal = $429,275

Issue Date FY: 2025 ( Subtotal = $492,247 )
2025	2025	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Vision Research	003	17	8/1/2025	NON-COMPETING CONTINUATION	$492,246
2025	2023	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	002	15	7/8/2025	NON-COMPETING CONTINUATION	$0
2025	2023	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Vision Research	001	16	6/5/2025	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$308,800
2025	2023	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	15	6/4/2025	NON-COMPETING CONTINUATION	-$308,799
														Subtotal = $492,247

Issue Date FY: 2024 ( Subtotal = $0 )
2024	2023	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	15	8/7/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2023 ( Subtotal = $642,869 )
2023	2023	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	003	15	8/24/2023	NON-COMPETING CONTINUATION	$492,870
2023	2023	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	004	15	8/28/2023	SUPPLEMENT FOR EXPANSION	$149,999
2023	2022	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	002	14	7/17/2023	COMPETING CONTINUATION	$130,187
2023	2022	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	14	6/12/2023	COMPETING CONTINUATION	$0
2023	2021	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	13	7/17/2023	NON-COMPETING CONTINUATION	-$130,187
														Subtotal = $642,869

Issue Date FY: 2022 ( Subtotal = $507,870 )
2022	2022	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	14	9/12/2022	COMPETING CONTINUATION	$507,870
2022	2021	BAYLOR COLLEGE OF MEDICINE	1 BAYLOR PLZ	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	13	9/8/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $507,870

Issue Date FY: 2021 ( Subtotal = $345,120 )
2021	2021	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	13	5/10/2021	NON-COMPETING CONTINUATION	$345,120
														Subtotal = $345,120

Issue Date FY: 2020 ( Subtotal = $392,427 )
2020	2020	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	12	5/1/2020	NON-COMPETING CONTINUATION	$392,427
2020	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	11	1/14/2020	NON-COMPETING CONTINUATION	$0
														Subtotal = $392,427

Issue Date FY: 2019 ( Subtotal = $392,427 )
2019	2019	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	11	8/26/2019	NON-COMPETING CONTINUATION	$392,427
														Subtotal = $392,427

Issue Date FY: 2018 ( Subtotal = $407,052 )
2018	2018	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	10	4/26/2018	COMPETING CONTINUATION	$407,052
2018	2018	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	002	10	9/21/2018	COMPETING CONTINUATION	$6,411
2018	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	9	9/21/2018	EXTENSION WITH OR WITHOUT FUNDS	-$6,411
														Subtotal = $407,052

Issue Date FY: 2017 ( Subtotal = $0 )
2017	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	9	1/8/2017	EXTENSION WITH OR WITHOUT FUNDS	$105,681
2017	2015	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	8	1/8/2017	NON-COMPETING CONTINUATION	-$105,681
														Subtotal = $0

Issue Date FY: 2016 ( Subtotal = $387,365 )
2016	2016	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	9	4/22/2016	EXTENSION WITH OR WITHOUT FUNDS	$387,365
														Subtotal = $387,365

Issue Date FY: 2015 ( Subtotal = $379,617 )
2015	2015	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	8	5/1/2015	NON-COMPETING CONTINUATION	$379,617
														Subtotal = $379,617

Issue Date FY: 2014 ( Subtotal = $379,618 )
2014	2014	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	7	4/23/2014	NON-COMPETING CONTINUATION	$379,618
														Subtotal = $379,618

Issue Date FY: 2013 ( Subtotal = $467,543 )
2013	2013	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	6	6/25/2013	NON-COMPETING CONTINUATION	$19,368
2013	2013	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	002	6	9/11/2013	SUPPLEMENT FOR EXPANSION	$99,546
2013	2013	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	6	4/26/2013	NON-COMPETING CONTINUATION	$348,629
														Subtotal = $467,543

Issue Date FY: 2012 ( Subtotal = $351,671 )
2012	2012	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	5	4/13/2012	COMPETING CONTINUATION	$351,671
2012	2011	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	4	4/11/2012	NON-COMPETING CONTINUATION	$0
														Subtotal = $351,671

Issue Date FY: 2011 ( Subtotal = $406,238 )
2011	2011	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	4	12/2/2010	NON-COMPETING CONTINUATION	$380,847
2011	2011	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	001	4	6/22/2011	NON-COMPETING CONTINUATION	$25,391
														Subtotal = $406,238

Issue Date FY: 2010 ( Subtotal = $415,917 )
2010	2010	BAYLOR COLLEGE OF MEDICINE	ONE BAYLOR PLAZA	HOUSTON	TX	77030	HARRIS	USA	Vision Research	000	3	1/28/2010	NON-COMPETING CONTINUATION	$415,917
														Subtotal = $415,917

Grand Total All Awards = $7,247,191

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Genetics of early onset retinal diseases

Award Number: R01EY018571

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 12/01/2007

PERIOD OF PERFORMANCE END DATE: 07/31/2027

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