Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)

Summary

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

• Independent School Districts
• Native American Tribal Organizations Other Than Federally Recognized Tribal Governments
• Other
• County Governments
• Special District Governments
• Public and State Institutions of Higher Education
• Native American Tribal Governments Federally Recognized
• For Profit Organizations Other Than Small Businesses
• Nonprofits Having A 501(c)(3) Status With the Irs Other Than Institutions of Higher Education
• Private Institutions of Higher Education
• State Governments
• Public and Indian Housing Authorities
• Small Businesses
• Nonprofits Non Higher Education Without 501c3
• City Or Township Governments

Funding categories

• Income Security and Social Services
• Health