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.
Funder: National Institutes of Health
Due Dates: 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) | January 7, 2028 (Closing date)
Funding Amounts: Up to $499,999 in direct costs per year for up to 5 years
Summary: Supports screening, functional validation, and mechanistic characterization of human genomic variants associated with congenital anomalies.
Key Information: Animal-model validation is required; exclusively in vitro studies and clinical trials are not allowed.
Description
This NIH R01 initiative supports research connecting congenital anomaly-associated genomic variants to their functional effects. Participating components are the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute of Dental and Craniofacial Research (NIDCR), and Office of Research Infrastructure Programs (ORIP). The goal is to translate functional genomic knowledge into improved molecular diagnosis, treatment, and prevention of human birth defects.
Projects may use non-hypothesis-driven screening, hypothesis-driven mechanistic studies, or both. Variants may come from public databases or individual and group efforts, and may affect coding or non-coding regions. Research can combine computational prioritization, cell-based assays, and animal models to investigate structural congenital anomalies, intellectual developmental disabilities, inborn errors of metabolism, and dental, oral, or craniofacial anomalies.
