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

    Validate genomic variants causing human birth defects to bridge the gap from identification to functional impact using genetic data and in-silico tools.

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    Funder: National Institutes of Health

    Due Dates: June 5, 2025 (New) | July 5, 2025 (Renewal/Resubmission/Revision) | October 5, 2025 (New) | November 5, 2025 (Renewal/Resubmission/Revision) | February 5, 2026 (New) | March 5, 2026 (Renewal/Resubmission/Revision) | June 5, 2026 (New) | July 5, 2026 (Renewal/Resubmission/Revision) | October 5, 2026 (New) | November 5, 2026 (Renewal/Resubmission/Revision) | February 5, 2027 (New) | March 5, 2027 (Renewal/Resubmission/Revision) | June 5, 2027 (New) | July 5, 2027 (Renewal/Resubmission/Revision) | October 5, 2027 (New) | November 5, 2027 (Renewal/Resubmission/Revision)

    Funding Amounts: Up to $499,999 direct costs/year, max 5 years; modular or detailed budget allowed; number of awards depends on NIH appropriations and merit.

    Summary: Supports screening and functional validation of genomic variants associated with human congenital anomalies using in-silico, in vitro, and animal models.

    Key Information: Clinical trials are not allowed; foreign organizations are eligible; projects must validate function in animal models (not just in vitro).


    Description

    This NIH opportunity funds research to bridge the gap between identifying genetic variants associated with human congenital anomalies (including structural birth defects, intellectual developmental disabilities, and inborn errors of metabolism) and understanding their functional impact. The initiative supports projects that screen, functionally validate, and characterize congenital anomaly-associated genetic variants using data from public databases or individual/group efforts. Approaches may include in-silico analyses, cell-based assays, animal models, and multi-pronged strategies. The ultimate goal is to accelerate the translation of genomic findings into improved diagnosis, treatment, and prevention of human birth defects.


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