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Genetic modifiers of Duchenne Muscular Dystrophy

Award Number: R01NS085238
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/15/2014
PERIOD OF PERFORMANCE END DATE: 07/31/2027

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Genetic modifiers of Duchenne Muscular Dystrophy - Project Summary Duchenne muscular dystrophy (DMD) is a degenerative muscle disorder that affects approximately 1:3500 to 1:5200 live male births caused by mutations in the X-linked DMD gene. DMD gene mutations result in absence of the dystrophin protein in muscle fibers, leading to myofiber necrosis, endomysial fibrosis, and fat replacement. It is a devastating disorder, leading to loss of ambulation by age 12, and historically to death by age 20. The psychological and socioeconomic effects on families are enormous; these include but are not limited to the costs of medical care, opportunity costs for career and work, and the psychological toll taken on parents and siblings. Our long-term goal is to understand which genes modify disease progression and severity of DMD. Confirming a hypothesis derived from a genetic modifier of muscular dystrophies in mice, we have recently used data from patients enrolled in the United Dystrophinopathy Project (UDP) to demonstrate that polymorphisms in the LTBP4 gene influence age at loss of ambulation. Our objective in this project is to identify additional genetic modifiers of skeletal muscle, cardiac, and ventilatory function, and our central hypothesis is that such modifiers can be identified by use of the UDP database, a unique resource that contains detailed phenotypic data and archived DNA samples from over 900 DMD patients. Our specific aims are to 1) update and analyze phenotypic data within the UDP cohort, 2) map modifier traits by high- density single nucleotide polymorphism arrays, and 3) validate newly identified putative genetic modifiers. Validation will engage collaborating networks of investigators in the US and Europe, who have additional natural history cohorts of DMD patients. At the conclusion of these Aims, we will have gained new information about modifier genes associated with the severity and progression of DMD.


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 = $921,491 )
2025	2025	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	9	7/21/2025	NON-COMPETING CONTINUATION	$921,491
														Subtotal = $921,491

Issue Date FY: 2024 ( Subtotal = $904,269 )
2024	2024	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	8	8/8/2024	NON-COMPETING CONTINUATION	$904,269
														Subtotal = $904,269

Issue Date FY: 2023 ( Subtotal = $932,236 )
2023	2023	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	7	9/11/2023	NON-COMPETING CONTINUATION	$0
2023	2023	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	7	8/28/2023	NON-COMPETING CONTINUATION	$932,236
2023	2022	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	003	6	9/20/2023	COMPETING CONTINUATION	$178
2023	2018	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	002	5	9/20/2023	NON-COMPETING CONTINUATION	-$178
														Subtotal = $932,236

Issue Date FY: 2022 ( Subtotal = $946,236 )
2022	2022	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	6	8/11/2022	COMPETING CONTINUATION	$946,236
														Subtotal = $946,236

Issue Date FY: 2021 ( Subtotal = $0 )
2021	2018	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	5	5/27/2021	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2020 ( Subtotal = $0 )
2020	2018	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	5	5/28/2020	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2018 ( Subtotal = $569,855 )
2018	2018	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	5	8/20/2018	NON-COMPETING CONTINUATION	$569,855
														Subtotal = $569,855

Issue Date FY: 2017 ( Subtotal = $774,783 )
2017	2017	RESEARCH INSTITUTE AT NATIONWIDE CHILDREN'S HOSPITAL	700 CHILDRENS DR	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	6/2/2017	NON-COMPETING CONTINUATION	$774,783
														Subtotal = $774,783

Issue Date FY: 2016 ( Subtotal = $774,783 )
2016	2016	Research Institute at Nationwide`s Children`s Hospital	700 CHILDREN`S DRIVE	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	3	7/22/2016	NON-COMPETING CONTINUATION	$774,783
														Subtotal = $774,783

Issue Date FY: 2015 ( Subtotal = $825,435 )
2015	2015	Research Institute at Nationwide`s Children`s Hospital	700 CHILDREN`S DRIVE	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	4/21/2015	NON-COMPETING CONTINUATION	$825,435
														Subtotal = $825,435

Issue Date FY: 2014 ( Subtotal = $987,747 )
2014	2014	Research Institute at Nationwide`s Children`s Hospital	700 CHILDREN`S DRIVE	COLUMBUS	OH	43205	FRANKLIN	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	5/9/2014	NEW	$987,747
														Subtotal = $987,747

Grand Total All Awards = $7,636,835

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Genetic modifiers of Duchenne Muscular Dystrophy

Award Number: R01NS085238

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/15/2014

PERIOD OF PERFORMANCE END DATE: 07/31/2027

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