Screening and Functional Validation of Human Birth Defects Genomic Variants (R01 Clinical Trial Not Allowed)

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

credit: Run Luau Run


(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.
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Child Health and Human Development Extramural Research

Department of Health and Human Services


Agency: Department of Health and Human Services

Office: National Institutes of Health

Estimated Funding: $2,000,000


Who's Eligible





Obtain Full Opportunity Text:
http://grants.nih.gov/grants/guide/pa-files/PAR-21-229.html

Additional Information of 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.

Full Opportunity Web Address:
http://grants.nih.gov/grants/guide/pa-files/PAR-21-229.html

Contact:


Agency Email Description:
If you have any problems linking to this funding announcement, please contact the NIH OER Webmaster

Agency Email:


Date Posted:
2021-05-05

Application Due Date:


Archive Date:
2025-06-12


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