Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)
This NIH R01 funds screening, functional validation, and characterization of genomic variants associated with human congenital anomalies using public datasets and experimental models, for eligible research organizations.
⚑ R01 Clinical Trial Not Allowed · Non-domestic (foreign) entities are explicitly eligible · No award ceiling listed (shown as $0 in notice)
Unit fits — one characterization, each unit's own rules
| Physical Sciences & Engineering (demo) | 80 strong | technical depth: substantial; funds applied research |
| IPPRA | 45 partial | peripheral portfolio topic: public_health; social/behavioral work is none; funds applied research; biomedical core — IPPRA health lane is communication/crisis/policy (capped); capped at 45 (limited social-science role) |
| Tom Love Innovation Hub | 30 weak | funds applied research; deep-tech content |
Description
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
Other Eligible Applicants include the following: Alaska Native and Native Hawaiian Serving Institutions; Asian American Native American Pacific Islander Serving Institutions (AANAPISISs); Eligible Agencies of the Federal Government; Faith-based or Community-based Organizations; Hispanic-serving Institutions; Historically Black Colleges and Universities (HBCUs); Indian/Native American Tribal Governments (Other than Federally Recognized); Non-domestic (non-U.S.) Entities (Foreign Organizations); Regional Organizations; Tribally Controlled Colleges and Universities (TCCUs) ; U.S. Territory or Possession.
Apply
View on Grants.gov → CONTACT: National Institutes of Health <grantsinfo@nih.gov>
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