Notice of Intent to Publish a Funding Opportunity Announcement for ClinGen Genomic Curation Expert Panels
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The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), along with several other NIH Institutes and Centers, plans to issue a Notice of Funding Opportunity to support the creation and continuation of Genomic Curation Expert Panels under the NIH-funded Clinical Genome Resource (ClinGen). These expert panels will focus on the manual curation, review, and clinical interpretation of genes and genetic variants, particularly addressing variants of uncertain significance that present challenges in genomic and precision medicine. The initiative aims to systematically evaluate genes and variants linked to high-priority diseases and conditions identified by the participating NIH ICs, ultimately improving diagnosis and treatment through enhanced variant classification. The funded panels will be required to operate utilizing established protocols, tools, and informatics infrastructure from the NHGRI ClinGen and NCBI ClinVar platforms. Their work contributes to a centralized, publicly accessible repository of expert-curated genetic data, facilitating the aggregation and dissemination of clinically relevant genetic information. This effort supports the advancement of precision medicine by improving understanding of gene-disease relationships and enabling better clinical decision-making based on genetic findings. The initiative is managed by the NIH under the Department of Health and Human Services, with Julia Jiaqi O’Reilly, PhD, serving as a primary point of contact.
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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.