Tuesday, September 16, 2025 9/16/2025

Leveraging human genetics to overcome complex diagnostic challenges, evaluation of pan-ancestry polygenic scores to reduce misdiagnosis of narcolepsy and circadian rhythm sleep wake disorders.

Award Number: R01HG012810
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/16/2023
PERIOD OF PERFORMANCE END DATE: 01/31/2028

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Leveraging human genetics to overcome complex diagnostic challenges, evaluation of pan-ancestry polygenic scores to reduce misdiagnosis of narcolepsy and circadian rhythm sleep wake disorders. - Project Summary/Abstract One of the biggest challenges in rare disease is accuracy and timeliness of patient diagnosis. On average it takes 6 years for an accurate diagnosis, delaying treatment and creating substantial burden at the levels of individual, familial and healthcare systems with an estimated $750 billion spent on unnecessary procedures. Misdiagnosis also widens inequalities further, as misdiagnosis is more common among women and people of color. Therefore, there is an urgent need to improve diagnosis. Genetic risk predictions can improve diagnosis, with particular clinical utility in the specific setting where large barriers to diagnosis exist, such as rare sleep disorders. The rare sleep disorders narcolepsy and circadian rhythm sleep wake disorders face large hurdles to diagnosis, where 20% of primary care physicians are unaware that sleep medicine exists as a specialty, routine screening for sleep disorders is nearly absent, diagnostic tests require overnight visits to a limited number of specialized clinics, and insurance coverage for common diagnostic tests is non-existent. In contrast to the current diagnostic landscape for sleep disorders, genetic risk prediction is relatively inexpensive and easily accessible. In order to integrate genetic risk into the diagnosis and treatment pipeline, we must first have genetic predictors of risk applicable across multiple ancestry groups, or we risk widening inequities in healthcare further. To address the challenge of timely patient diagnosis in sleep disorders, we propose to leverage large exome sequence repositories to generate rare variant risk scores, expand the current known common polygenic scores to multiple genetic ancestries, and ultimately test the ability of both the rare and common polygenic scores to predict risk of rare sleep and circadian disorders in a large-scale hospital database with the goal to integrate flags in patient records.


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 = $625,118 )
2025	2025	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Human Genome Research	000	3	1/17/2025	NON-COMPETING CONTINUATION	$562,606
2025	2025	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Human Genome Research	002	3	8/7/2025	NON-COMPETING CONTINUATION	$0
2025	2025	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Human Genome Research	001	3	4/24/2025	NON-COMPETING CONTINUATION	$62,512
														Subtotal = $625,118

Issue Date FY: 2024 ( Subtotal = $625,118 )
2024	2024	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Human Genome Research	000	2	3/6/2024	NON-COMPETING CONTINUATION	$625,118
														Subtotal = $625,118

Issue Date FY: 2023 ( Subtotal = $716,114 )
2023	2023	BRIGHAM & WOMENS HOSPITAL INC	75 FRANCIS ST	BOSTON	MA	02115	SUFFOLK	USA	Human Genome Research	000	1	3/16/2023	NEW	$716,114
														Subtotal = $716,114

Grand Total All Awards = $1,966,350

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Leveraging human genetics to overcome complex diagnostic challenges, evaluation of pan-ancestry polygenic scores to reduce misdiagnosis of narcolepsy and circadian rhythm sleep wake disorders.

Award Number: R01HG012810

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 03/16/2023

PERIOD OF PERFORMANCE END DATE: 01/31/2028

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