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

National Institutes of Health · Oral Diseases and Disorders Research (93.121)

Publié 30 oct. 2024 · Environ 15 mois restants

En clair

Résumé pas encore disponible en français ; affiché en anglais.

The US National Institutes of Health funds research screening and validating genetic variants linked to congenital anomalies, intellectual disabilities and metabolic disorders using databases, animal models and laboratory systems. Applications from researchers in universities, nonprofits, businesses and other organisations worldwide are due by 7 January 2028.

Un résumé généré du texte du bailleur ; la formulation originale figure ci-dessous.

Résumé

Texte original du bailleur (anglais)

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.

Extrait de la page du bailleur. Le texte intégral, les annexes et les formulaires se trouvent dans l'appel original.

Régions éligibles

  • Monde entier

Qui peut candidater

  • Entreprise privée
  • ONG / société civile
  • Organisme public
  • Établissement universitaire ou de recherche
  • Organisation communautaire
  • Agence de l'ONU ou intergouvernementale

Éligibilité et conditions

Afficher le texte d'éligibilité de la source · Texte original du bailleur (anglais)

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

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.

Thèmes