Center for modeling non-coding disease variants
Active Cooperative Agreement Awarded Last action
- Award ID
- U54OD039864
- Recipient
-
University Of California Irvine UEI MJC5FCYQTPE6
- Awarding agency
-
Aggregate Financial Assistance Data
National Institutes of Health, Department of Health and Human Services
- Obligated
- $3,694,446
Award facts
- Assistance listing
- 93.351 Research Infrastructure Programs
- Completion date 24% complete
- Funding agency
- Office of the Director National Institutes of Health, Department of Health and Human Services
- Place of performance
- Irvine, CA 92697, USA
Award details come from USAspending.gov.
Description
- 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.
Transactions
| Action | Obligated | Date |
|---|---|---|
| Amendment | $1,834,108 | |
| Original award | $1,860,338 |
Quick answers
Who received award U54OD039864?
U54OD039864 was awarded to University Of California Irvine by Aggregate Financial Assistance Data (National Institutes of Health) on August 15, 2025.
How much is award U54OD039864 worth?
$3,694,446 has been obligated on U54OD039864.
Which agency awarded U54OD039864?
Aggregate Financial Assistance Data (National Institutes of Health) awarded U54OD039864, with funding from Office of the Director (National Institutes of Health).
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