Screening and Functional Validation of Human Birth Defects Genomic Variants (R01 Clinical Trial Not Allowed)
- Posted
- May 5, 2021
- Closed
- October 29, 2024
- Award ceiling
- $499,999
- Cost sharing
- No
- Instrument
- Grant
- Assistance listing
- 93.121, 93.351, 93.865
- Archives
- November 28, 2024
Program funding history
Awards made under Assistance Listing 93.121 (one of 3 on this opportunity) across FY2025–FY2027, from public federal spending records.
- FY2025 obligated
- $378.9M
- FY2026 obligated
- $380.8M
- FY2027 (to date) obligated
- $0
- Awards in window
- 2,170
Top recipients: Regents of the University of California, San Francisco, the, Regents of the University of Michigan, University of Pittsburgh - of the Commonwealth System of Higher Education, University of Florida, University of Southern California
Source: USAspending.gov · refreshed October 2026 · Program page: awards, recipients and the opportunities under this listing →
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 structural birth defects (SBDs), intellectual developmental disabilities (IDDs) and inborn errors of metabolism (IEMs). Large quantities of genomic data collected from pediatric birth defects 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 birth defects-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.
Who can apply
- Independent school districts
- Public and State controlled institutions of higher education
- Special district governments
- Public housing authorities/Indian housing authorities
- City or township governments
- Native American tribal organizations (other than Federally recognized tribal governments)
- Nonprofits having a 501(c)(3) status with the IRS, other than institutions of higher education
- Nonprofits that do not have a 501(c)(3) status with the IRS, other than institutions of higher education
- Small businesses
- Others (see text field entitled "Additional Information on Eligibility" for clarification)
- Private institutions of higher education
- For profit organizations other than small businesses
- County governments
- Native American tribal governments (Federally recognized)
- State governments
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.
The official record
Grants.gov published the official terms and dates of this opportunity; this page keeps them as they were listed.
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