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Defining the functional variation underlying atrial fibrillation risk

Award Number: K01HL140187
ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 07/15/2018
PERIOD OF PERFORMANCE END DATE: 05/31/2023

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Defining the functional variation underlying atrial fibrillation risk - Project Summary: Atrial fibrillation (AF) is the most common cardiac arrhythmia, which affects over 3 million Americans. AF confers an increased risk of hospitalization, stroke, dementia, heart failure and death and places a major burden on the healthcare system. AF, particularly in younger individuals, arises from the ectopic stimuli within the pulmonary veins with propagation to left atrium; however, many other aspects of the underlying mechanisms for AF remain unresolved. Although many clinical risk factors have been identified, in recent years we have come to appreciate that AF is heritable. A proportion of this heritability is conferred through common genetic variation. Using, genome-wide association studies (GWAS), our group and others have identified 26 independent genetic loci for AF. These loci can provide a unique and often unexpected window into the mechanisms of disease; however, as with other GWAS studies, a primary challenge is moving from an association to a specific disease mechanism. There are at least three major challenges that make it difficult to link a genetic association to a specific disease mechanism. First, GWAS loci often reside in gene-dense regions, making it difficult to identify which gene is associated with disease. Second, the overwhelming majority of GWAS loci reside in non-coding regions of the genome. The disease risk variants are presumed to alter the activity of regulatory elements that modulate nearby gene expression in a cell-specific manner. Finally, these GWAS loci can be large, and it can be challenge to identify the functional variant from among the many common variants at a locus. Given these challenges, the truly causative variants and the gene of interest are unknown for most GWAS loci. This knowledge gap greatly impedes the ability to leverage GWAS data for translational potential, as any modeling of gene function at these loci would be speculative. These issues are not exclusive to AF, instead pertaining not only to similar studies across other cardiovascular diseases and traits, but also the thousands of GWAS loci in the full spectrum of human diseases and traits uncovered in the past decade. The focus of the current proposal is to address these knowledge gaps for AF GWAS loci, with the ultimate goal of applying new insights to other cardiovascular disease loci. Given the genomic localization of most GWAS signals, this proposal operates under the overarching hypothesis that non-coding variation at AF- association loci alters gene expression in adult human left atrium, ultimately leading to AF susceptibility. We propose to leverage the genome sequencing based association data and our left atrial tissue repository for epigenetic definition and functional variant discovery. We will then use the same genotype information to identify the gene targets of each association locus.


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: 2024 ( Subtotal = $0 )
2024	2022	MASONIC MEDICAL RESEARCH LAB	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	000	5	1/8/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2022 ( Subtotal = $167,400 )
2022	2022	MASONIC MEDICAL RESEARCH LAB	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	000	5	7/18/2022	NON-COMPETING CONTINUATION	$167,400
														Subtotal = $167,400

Issue Date FY: 2021 ( Subtotal = $167,400 )
2021	2021	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	004	4	6/5/2021	NON-COMPETING CONTINUATION	$167,400
2021	2020	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	006	3	7/14/2021	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$103,750
2021	2020	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	003	3	5/4/2021	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	-$99,502
2021	2020	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	001	3	2/9/2021	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$99,502
2021	2019	MASSACHUSETTS GENERAL HOSPITAL, THE	55 FRUIT ST	BOSTON	MA	02114	SUFFOLK	USA	Cardiovascular Diseases Research	005	2	7/14/2021	NON-COMPETING CONTINUATION	-$103,750
2021	2019	MASSACHUSETTS GENERAL HOSPITAL, THE	55 FRUIT ST	BOSTON	MA	02114	SUFFOLK	USA	Cardiovascular Diseases Research	002	2	5/4/2021	NON-COMPETING CONTINUATION	$99,502
2021	2019	MASSACHUSETTS GENERAL HOSPITAL, THE	55 FRUIT ST	BOSTON	MA	02114	SUFFOLK	USA	Cardiovascular Diseases Research	000	2	2/9/2021	NON-COMPETING CONTINUATION	-$99,502
														Subtotal = $167,400

Issue Date FY: 2020 ( Subtotal = $167,400 )
2020	2020	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	002	3	8/3/2020	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	-$167,400
2020	2020	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	001	3	6/2/2020	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$167,400
2020	2020	MASONIC MEDICAL RESEARCH LABORATORY	2150 BLEECKER ST	UTICA	NY	13501	ONEIDA	USA	Cardiovascular Diseases Research	003	3	8/5/2020	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$167,400
2020	2019	MASSACHUSETTS GENERAL HOSPITAL, THE	55 FRUIT ST	BOSTON	MA	02114	SUFFOLK	USA	Cardiovascular Diseases Research	000	2	6/2/2020	NON-COMPETING CONTINUATION	$0
														Subtotal = $167,400

Issue Date FY: 2019 ( Subtotal = $178,056 )
2019	2019	MASSACHUSETTS GENERAL HOSPITAL, THE	55 FRUIT ST	BOSTON	MA	02114	SUFFOLK	USA	Cardiovascular Diseases Research	000	2	5/15/2019	NON-COMPETING CONTINUATION	$178,056
														Subtotal = $178,056

Issue Date FY: 2018 ( Subtotal = $178,056 )
2018	2018	MASSACHUSETTS GENERAL HOSPITAL, THE	55 FRUIT ST	BOSTON	MA	02114	SUFFOLK	USA	Cardiovascular Diseases Research	000	1	7/13/2018	NEW	$178,056
														Subtotal = $178,056

Grand Total All Awards = $858,312

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Defining the functional variation underlying atrial fibrillation risk

Award Number: K01HL140187

ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 07/15/2018

PERIOD OF PERFORMANCE END DATE: 05/31/2023

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