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Genetic Epidemiology of Sleep Apnea and Comorbidities in Biobanks

Award Number: R01HL153805
ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/16/2021
PERIOD OF PERFORMANCE END DATE: 07/31/2027

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Genetic Epidemiology of Sleep Apnea and Comorbidities in Biobanks - ABSTRACT Sleep apnea (SA) and insomnia are the two most common sleep disorders, and both contribute individually and jointly to the risk of cardiopulmonary, metabolic, and psychiatric diseases. Despite their high prevalence, treatments for SA and insomnia remain suboptimal. SA and insomnia are thought to be comprised of distinct subtypes, which remain poorly defined and may contribute to differing risks for health outcomes. Our goal is to use machine learning to apply precise phenotyping to biobanks to identify the genetic bases of SA and insomnia and discover SA and insomnia subtypes based on genetics and comorbidities in order to reduce phenotype heterogeneity, guide patient stratification and aid in the discovery of more personalized treatments. Our approach is to combine health care system biobank data with research polysomnography (PSG) to achieve statistical power to discover genetic variants for SA and insomnia-related phenotypes and characterize their associated clinical outcomes and endophenotypes (physiological mechanisms). We will use advanced natural language processing (NLP) methods to substantially improve the accuracy of SA and insomnia phenotyping. Our anticipated sample size will be >11-fold larger than prior genetic studies of SA, providing the necessary statistical power for genetic discovery. Polygenic risk scores derived from our results can be used to quantify sleep disorder risk, even among those without sleep phenotypes. Machine learning methods can identify predictors of diagnosis-clustered patient groups contained within the medical record. Precision deeply- phenotyped PSG data (eg hypoxic burden) can characterize endophenotypes at associated genetic loci using genetic localization. We will derive advanced SA and insomnia phenotypes robust to demographic differences across biobank sites, perform the largest genetic analysis of validated SA and insomnia phenotypes to date, characterize novel loci, and study associations with clinical diagnosis data to improve patient classification in three biobanks. We will explore sex-specific associations and validate lead genetic associations in two biobanks. Our specific aims are: 1) to construct advanced SA and insomnia phenotying algorithms across diverse demographic groups and sites; 2) to identify and characterize the genetic associations with SA and insomnia; and 3) to identify and characterize distinct SA and insomnia patient subgroups based on related comorbidity profiles. The proposed project has a goal of improving the treatment of heart, lung, blood, and sleep disorders by potentially resolving disease heterogeneity, discovering novel genetic associations with sleep disorders, and helping to clarify the overlap of SA and insomnia with cardiopulmonary, metabolic, and psychiatric disease.


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	2025	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	000	5	5/4/2026	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2025 ( Subtotal = $733,899 )
2025	2025	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	000	5	8/26/2025	NON-COMPETING CONTINUATION	$733,899
														Subtotal = $733,899

Issue Date FY: 2024 ( Subtotal = $723,956 )
2024	2024	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	000	4	8/23/2024	NON-COMPETING CONTINUATION	$723,956
														Subtotal = $723,956

Issue Date FY: 2023 ( Subtotal = $738,732 )
2023	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	000	3	8/30/2023	NON-COMPETING CONTINUATION	$738,732
														Subtotal = $738,732

Issue Date FY: 2022 ( Subtotal = $733,899 )
2022	2022	BRIGHAM AND WOMEN'S HOSPITAL, INC., THE	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	002	2	7/22/2022	NON-COMPETING CONTINUATION	$733,899
2022	2021	BRIGHAM AND WOMEN'S HOSPITAL, INC., THE	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	000	1	10/19/2021	NEW	$0
2022	2021	BRIGHAM AND WOMEN'S HOSPITAL, INC., THE	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	001	1	5/27/2022	NEW	$0
														Subtotal = $733,899

Issue Date FY: 2021 ( Subtotal = $814,166 )
2021	2021	BRIGHAM AND WOMEN'S HOSPITAL, INC., THE	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	National Center on Sleep Disorders Research	000	1	8/16/2021	NEW	$814,166
														Subtotal = $814,166

Grand Total All Awards = $3,744,652

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Genetic Epidemiology of Sleep Apnea and Comorbidities in Biobanks

Award Number: R01HL153805

ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 08/16/2021

PERIOD OF PERFORMANCE END DATE: 07/31/2027

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