Screening and Functional Validation of Human Birth Defects Genomic ...

By National Institutes of Health
Government Grant





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 challengi...


  • State governments
  • County governments
  • City or township governments
  • Special district governments
  • Independent school districts
  • Public and State controlled institutions of higher education
  • Native American tribal governments (Federally recognized)
  • Public housing authorities/Indian housing authorities
  • 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
  • Private institutions of higher education
  • For-profit organizations other than small businesses
  • Small businesses
  • Others

Thanks to the funder for their generosity.