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

HHS-NIH11 PAR-25-185
Posted: Oct 30, 2024 12:00:00 AM EDT
Closes: 01/07/2028

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.

Synopsis

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

Eligible Applicants:
County governments Others (see text field entitled "Additional Information on Eligibility" for clarification) Public and State controlled institutions of higher education Small businesses Nonprofits that do not have a 501(c)(3) status with the IRS, other than institutions of higher education For profit organizations other than small businesses Independent school districts Nonprofits having a 501(c)(3) status with the IRS, other than institutions of higher education Special district governments State governments Private institutions of higher education Native American tribal organizations (other than Federally recognized tribal governments) City or township governments Public housing authorities/Indian housing authorities Native American tribal governments (Federally recognized)
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.

Funding Activity Categories

Health Income Security and Social Services

CFDA Numbers

  • 93.121 - Oral Diseases and Disorders Research
  • 93.351 - Research Infrastructure Programs
  • 93.865 - Child Health and Human Development Extramural Research

Contact Information

Agency: National Institutes of Health
Contact: National Institutes of Health
Phone: 301-402-2541
NIH Grants Information
grantsinfo@nih.gov

Additional Information

Document Type: synopsis
Opportunity Category: Discretionary
Version: 1
Last Updated: Oct 30, 2024 12:37:06 PM EDT

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