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NIH to Fund Omics Studies of Variant Function in Newly Diagnosed Diseases

NEW YORK (GenomeWeb) – The National Institutes of Health plans to award $1 million to support research into the function of specific genes that have been found to play roles in newly diagnosed diseases, NIH said in a funding announcement on Friday.

The funding will support studies that will investigate the underlying genetics, biochemistry, and pathophysiology of diseases that have been identified through NIH's Undiagnosed Diseases Program (UDP), and the function of gene variants that recent genomics research has linked to these disorders.

The investigators will collaborate with the Undiagnosed Diseases Network and will use a range of genomics and bioinformatics methods to study how these gene variants function in these diseases.

Funded through the NIH Common Fund, these projects will aim to gain a mechanistic understanding of whether and how genetic variation affects gene expression and function in relation to a specific disease phenotype, and to find out how particular genes and their variants are involved in disease pathogenesis.

The applicants will use bioinformatics approaches and literature searches to substantiate the link between the variants and the disease phenotypes they study, NIH said. Priority will be given to projects that offer new mechanistic insights into the function of specific genes or gene networks implicated in specific phenotypes that are seen in UDP patients.

These studies may involve the use of model organisms to assess the contributions of gene variants to a gene's function in disease, and the use of genomics, transcriptomics, proteomics, or metabolomics methods to functionally characterize genes and variants. Researchers also may seek to study spatiotemporal expression patterns of genes and their protein products to better understand how these variants contribute to disease, or explore the contribution of the disease-related variants to abnormalities in gene expression or function in patient biospecimens.

NIH said it plans to fund between three and five two-year projects, each with up to $150,000 per-year.