Clinical genomic testing is increasingly routine in clinical practice, resulting in a large number of variants of unknown significance and leading to a critical need to determine the clinical relevance of these genetic variants. NHGRI and NLM recently established ClinGen, an open, accessible, clinical genomic infrastructure that captures genomic variants, their phenotypic and functional effects, and related clinical information. FDA recently recognized ClinGen as the first public genetic variant database that can be used to validate genetic variant information in regulatory submissions. ClinGen provides support for gene curation but does not have adequate resources to support expert panels of scientists to curate all the clinically relevant disorders and associated genomic variants.
To address this need, NICHD is issuing this initiative to establish gene/disease specific expert working groups to serve as curation panels that will identify genomic variants of high priority to NICHD and other potential participating ICs and determine the clinical relevance of these variants by leveraging the tools and informatics infrastructure provided by ClinGen. Of particular interest to NICHD will be applications that will curate candidate genes and variants in the areas of reproductive and gynecological health including infertility, pregnancy loss and other pregnancy outcomes, high-risk newborn conditions, structural birth defects, intellectual and developmental disabilities, primary immune deficiency, and susceptibility to infections. This initiative builds on and extends a successful RFA issued in FY 2017 in which 3 awards were made, which are currently curating genes associated with mitochondrial disorders, developmental brain malformations, and monogenic diabetes.
This initiative addresses recommendations from the following NICHD Vision areas: Reproduction, Pregnancy and Pregnancy Outcomes, Developmental Origins of Disease, Behavior and Cognition, which identify a better understanding of genetic factors associated with health and optimal development. The initiative also addresses the IDDB Branch priorities Understanding the Etiology of IDDBs and Improving Screening and Early Diagnosis of IDDBs.
Program Contact
Danuta Krotoski
Intellectual and Developmental Disabilities Branch (IDDB)
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