Description
The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), with other NIH Institutes and Centers (ICs) - National Eye Institute, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute on Deafness and Other Communication Disorders, National Institute of Mental Health, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences, and National Cancer Institute - intends to publish a Notice of Funding Opportunity (NOFO) to solicit applications for the establishment and continuation of Genomic Curation Expert Panels that manually curate, review and define the clinical relevance of genes and variants as part of the NIH established and funded Clinical Genome Resource (ClinGen). Despite advances in genomic sequencing technology and increasing adoption in clinical practice, there are many genomic variants with unknown significance (VUS), and there is limited understanding of their function. This presents barriers to genomic and precision medicine. To address this need for better knowledge about the links between genes, variants, and disease, this NOFO will facilitate the development of Expert Panels to select genes and variants associated with diseases or conditions of high priority for participating NIH Institutes and Centers (ICs) and to systematically determine their clinical significance for diagnosis and treatment of these diseases or conditions. The Expert Panels funded through this NOFO are required to utilize the NHGRI ClinGen and the NCBI ClinVar procedures, interfaces, tools, and informatics infrastructure. Ultimately, these expert panels contribute to an authoritative, centralized, and public resource, through aggregation, evaluation, and sharing of expert-curated data about genetic conditions, and the variants that cause them.