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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 (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.
Deadlines:
-
Letter of Intent Due Date(s): 30 days prior to application due date(s)
-
R01 Due Dates: Feb. 5, Jun. 5, Oct. 5
PAR-21-229 Expiration Date May 08, 2025
Specialties
Eligibility Requirements
Sponsor Details
Sponsor Institute/Organizations: National Institutes of Health
Address: National Institutes of Health; 31 Center Drive; MSC 2220; Bethesda; MD 20892-2220; USA
Grant
Final Deadline:
Oct 05, 2024
Funding Amount:
Varies
Host Details
Affiliation: National Institutes of Health
Address: National Institutes of Health; 31 Center Drive; MSC 2220; Bethesda; MD 20892-2220; USA
Disclaimer:It is mandatory that all applicants carry workplace liability insurance, e.g., https://www.protrip-world-liability.com (Erasmus students use this package and typically costs around 5 € per month - please check) in addition to health insurance when you join any of the onsite Trialect partnered fellowships.
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