Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)
National Institutes of Health
Award ceiling
—Award floor
—Posted
Oct 30, 2024Closes
Jan 7, 2028Location eligibility
No specific state restriction found in this listing — check the full opportunity for details.Categories: Health, Income Security and Social Services
Eligible applicants: Special district governments, Nonprofits having a 501(c)(3) status with the IRS, other than institutions of higher education, Public housing authorities/Indian housing authorities, Native American tribal organizations (other than Federally recognized tribal governments), Small businesses, Nonprofits that do not have a 501(c)(3) status with the IRS, other than institutions of higher education, State governments, Native American tribal governments (Federally recognized), Public and State controlled institutions of higher education, Independent school districts, Others (see text field entitled "Additional Information on Eligibility" for clarification), City or township governments, Private institutions of higher education, For profit organizations other than small businesses, County governments
Description
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.