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

National Institutes of Health

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 congenital anomalies (SCAs), 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.

Funding Opportunity Goal(s): To conduct and support laboratory research, clinical trials, and studies with people that explore health processes. NICHD researchers examine growth and development, biologic and reproductive functions, behavior patterns, and population dynamics to protect and maintain the health of all people. To examine the impact of disabilities, diseases, and defects on the lives of individuals. With this information, the NICHD hopes to restore, increase, and maximize the capabilities of people affected by disease and injury. To sponsor training programs for scientists, doctors, and researchers to ensure that NICHD research can continue. By training these professionals in the latest research methods and technologies, the NICHD will be able to conduct its research and make health research progress until all children, adults, families, and populations enjoy good health. The mission of the NICHD is to ensure that every person is born healthy and wanted, that women suffer no harmful effects from reproductive processes, and that all children have the chance to achieve their full potential for healthy and productive lives, free from disease or disability, and to ensure the health, productivity, independence, and well-being of all people through optimal rehabilitation.

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-25-185 Expiration Date January 08, 2028

Specialties

Medical

Medical - Basic Science

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

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