Screening and Functional Validation of Genomic Variants Associated with Human Congenital Anomalies (R01 Clinical Trial Not Allowed)
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.
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.
Related Programs
Oral Diseases and Disorders Research
Department of Health and Human ServicesResearch Infrastructure Programs
Department of Health and Human ServicesChild Health and Human Development Extramural Research
Department of Health and Human Services
Agency: Department of Health and Human Services
Office: National Institutes of Health
Estimated Funding: $21,000
Office: National Institutes of Health
Estimated Funding: $21,000
Who's Eligible
Relevant Nonprofit Program Categories
Obtain Full Opportunity Text:
https://grants.nih.gov/grants/guide/pa-files/PAR-25-185.html
Additional Information of 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.
Full Opportunity Web Address:
http://grants.nih.gov/grants/guide/pa-files/PAR-25-185.html
Contact:
Agency Email Description:
See Section VII. Agency Contacts within the full opportunity announcement for all other inquires.
Agency Email:
Date Posted:
2024-10-30
Application Due Date:
Archive Date:
2028-02-12
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