Official websites use .gov

A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS

A lock ( 🔒 ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

Need Help

Center for Modeling Non-Coding Disease Variants

Award Number: U54OD039864
ORGANIZATION: OFFICE OF THE DIRECTOR, NIH
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/15/2025
PERIOD OF PERFORMANCE END DATE: 07/31/2030

Group Awards By:

View Award Description

Center for Modeling Non-Coding Disease Variants - PROJECT SUMMARY/ABSTRACT: OVERALL APPLICATION Ninety-eight percent of the human genome is non-coding. Moreover, extensive analyses of common and rare diseases have implicated these noncoding genomic regions as a significant factor. For example, 90% of SNP- disease associations identified through Genome-Wide Association Studies are located in non-coding regions and 60% of genetic tests in rare disease patients produces unresolved associations. Despite this, the link between noncoding variants and human disease remains poorly understood due to challenges in mapping these regions, difficulties in detecting their activity, and a lack of experimental models to dissect their roles in biology. To address these challenges, we propose establishing a Center for Noncoding Disease Variant (NODIVA). We leverage access to national rare and undiagnosed disease consortia as a platform to test high-penetrance disease associations. Our team has been at the forefront of these efforts, generating some of the few available knock-out and knock-in models of non-coding regulatory regions associated with development and disease. In recent years, we have developed innovative tools to improve the ability to 1) detect, 2) quantify, and 3) link to a genomic activity most noncoding loci, as well as high-throughput in vitro and in vivo systems to genetically modulate and mechanistically dissect these regulatory elements. The goal of our Center is to develop targeted experimental disease models of noncoding variants in mice and human pluripotent stem cells (hPSCs) and share the knowledge and resources generated by these models. Our specific aims are to 1) leverage large-scale rare disease discovery cohorts from both internal and external sources; 2) apply novel computational and functional approaches to analyze, prioritize and screen noncoding variants, from variants of unknown significance to likely pathogenic mutations; 3) generate disease models of noncoding variants with high potential for causing disease in mice and model disease mechanisms in hPSCs; and 4) disseminate these models and work with internal and community referral researchers to generate and interpret cellular and molecular phenotypes from patient and animal models. We believe our proposal will be transformative, addressing critical gaps in current rare disease research by providing innovative disease models and integrative frameworks that will advance the field and ultimately improve patient outcomes.


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 = $1,834,108 )
2026	2026	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Research Infrastructure Programs	000	2	7/30/2026	NON-COMPETING CONTINUATION	$1,834,108
														Subtotal = $1,834,108

Issue Date FY: 2025 ( Subtotal = $1,860,338 )
2025	2025	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Research Infrastructure Programs	000	1	8/1/2025	NEW	$1,860,338
														Subtotal = $1,860,338

Grand Total All Awards = $3,694,446

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Center for Modeling Non-Coding Disease Variants

Award Number: U54OD039864

ORGANIZATION: OFFICE OF THE DIRECTOR, NIH

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 08/15/2025

PERIOD OF PERFORMANCE END DATE: 07/31/2030

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer