Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)
Open Posted
- Opportunity number
- PAR-25-185
- Agency
-
National Institutes of Health
Department of Health and Human Services
- Applications due
- Award size
- Not on record
Opportunity facts
- Assistance listings
- Funding instrument
- Grant
- Categories
-
- Income Security and Social Services
- Health
- Eligible applicants
-
- Independent School Districts
- Tribal Organizations (Not Federally Recognized)
- Other
- County Governments
- Special District Governments
- Higher Education Inst. (Public)
- Tribal Governments (Federally Recognized)
- For Profit Organizations
- 501(c)(3) Nonprofits
- Higher Education Inst. (Private)
- State Governments
- Public or Indian Housing Auth.
- Small Businesses
- Non-501(c)(3) Nonprofits
- City/Township Governments
- Points of contact
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- NIH OER Webmaster grantsinfo@nih.gov
- Full announcement
Opportunity details come from Grants.gov. Updated .
About this opportunity
The National Institutes of Health is soliciting applications for functional validation and screening of genomic variants associated with congenital anomalies by January 7, 2028, with an anticipated award start date of July 2027; clinical trials are not allowed. The $17.5 million initiative opens to a broad range of applicant categories: state and local governments, higher education institutions (public and private), nonprofits (including 501(c)(3) and non-501(c)(3)), for-profit organizations, small businesses, tribal governments and organizations, special districts, and housing authorities, as well as Alaska Native and Native Hawaiian serving institutions, HBCUs, Hispanic-serving institutions, AANAPISIs, TCCUs, faith-based and community-based organizations, eligible federal agencies, regional organizations, non-domestic entities, and U.S. territories. No cost share or matching requirement is specified. The program addresses the gap between identifying genomic variants of potential functional significance and determining which variants produce phenotypic effects in human congenital anomalies, intellectual developmental disabilities, and inborn errors of metabolism. Applicants must screen and functionally validate variants identified through public databases including dbGaP, Gabriella Miller Kids First Data Resource Portal, European Genome-Phenome Archive, and ClinGen using in-silico tools, animal models, in vitro systems, or multi-pronged approaches. The initiative is funded under CFDA 93.351 (Research Infrastructure Programs) and CFDA 93.865 (Child Health and Human Development Extramural Research). Evaluation criteria include scientific merit and significance, technical adequacy of experimental design, investigator competency, adequacy of facilities and resources, and budget necessity relative to program objectives. Standard NIH peer review applies: dual scientific review by extramural scientists at the initial level, followed by secondary review by the National Institutes of Health Council of Councils.
Synopsis
Rapid advances in genotyping and next generation sequencing technologies have led to the identification of genetic variants that are associated with a wide variety of congenital defects including human congenital anomalies (HCAs), intellectual developmental disabilities (IDDs) and inborn errors of metabolism (IEMs). Large quantities of genomic data collected from pediatric congenital anomalies cohorts are available to the research community through several databases such as the Database of Genotypes and Phenotypes (dbGaP), the Gabriella Miller Kids First Data Resource Portal, the European Genome-Phenome Archive and Clinical Genome Resource (ClinGen). The purpose of this initiative is to promote the screening, functional validation and characterization of congenital anomaly-associated genetic variants identified through public facing databases and individual efforts using in-silico tools, appropriate animal models, in vitro systems or multi-pronged approaches. This initiative addresses a challenging gap between identifying sequence variations of potential interest and recognizing which of those variations have functional effects on the phenotype of interest.
Eligibility
Other Eligible Applicants include the following: Alaska Native and Native Hawaiian Serving Institutions; Asian American Native American Pacific Islander Serving Institutions (AANAPISISs); Eligible Agencies of the Federal Government; Faith-based or Community-based Organizations; Hispanic-serving Institutions; Historically Black Colleges and Universities (HBCUs); Indian/Native American Tribal Governments (Other than Federally Recognized); Non-domestic (non-U.S.) Entities (Foreign Organizations); Regional Organizations; Tribally Controlled Colleges and Universities (TCCUs) ; U.S. Territory or Possession.
Files
| File | Type | Posted |
|---|---|---|
| PAR-25-185-Full-Announcement.html | HTML file | |
| PKG00288446.pdf |
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