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A framework to characterize monogenic disease in founder populations using biobank-scale data

Award Number: F32HG014400
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 11/17/2026
PERIOD OF PERFORMANCE END DATE: 11/16/2027

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A framework to characterize monogenic disease in founder populations using biobank-scale data - PROJECT ABSTRACT This project aims to identify and clinically characterize genetic drivers of monogenic diseases using biobank- scale data, overcoming limitations of traditional approaches by leveraging founder populations and advanced computational methods. The broad objective is to enhance the discovery and translation of monogenic disease variants into clinical practice. We propose a framework combining identity-by-descent (IBD) haplotype mapping and ancestral recombination graph (ARG) modeling to detect disease-associated genomic regions in founder populations, which are prevalent in cosmopolitan biobanks. This approach increases statistical power for rare variants and refines localization through evolutionary insights. In Aim 1, we will develop scalable IBD-based pipelines and integrate ARG methods to generate an atlas of high-confidence haplotypes linked to monogenic disease. Aim 2 focuses on clinical validation, using exome sequencing, pathogenicity prediction, and electronic health record (EHR) phenotyping to confirm candidate variants. By integrating computational genetics with rigorous clinical characterization, this work will improve the identification of monogenic disease drivers, reduce diagnostic delays, and facilitate precision medicine applications. The methods developed will be broadly applicable to biobank-based genetic research.


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 = $76,300 )
2026	2026	ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI	1 GUSTAVE L LEVY PL	NEW YORK	NY	10029	NEW YORK	USA	Human Genome Research	000	1	4/27/2026	NEW	$76,300
														Subtotal = $76,300

Grand Total All Awards = $76,300

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A framework to characterize monogenic disease in founder populations using biobank-scale data

Award Number: F32HG014400

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 11/17/2026

PERIOD OF PERFORMANCE END DATE: 11/16/2027

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