NEW YORK (GenomeWeb News) – The National Institutes of Health will fund research projects next year that seek to find out how the function of genes and genetic variants are involved in certain rare diseases that have only recently been diagnosed.
To fuel these studies, NIH plans to provide $650,000 in Fiscal Year 2014 to fund three to five projects under its Undiagnosed Diseases Program (UDP), a trans-NIH effort launched in 2008 that aims to solve some of the most mysterious cases in patients who come to the NIH Clinical Center and to advance knowledge about these diseases.
NIH said in a funding announcement yesterday that it has already found that the combination of gene-function studies, genetic and genomic analyses, and metabolic studies have "greatly improved diagnoses of these very rare diseases and advanced scientific knowledge of the underlying pathogenesis."
Two years ago, the UDP program used genomic analysis to discover that mutations in the NT5E gene were the root cause of a previously undiagnosed vascular disorder called arterial calcification due to CD73 deficiency, or ACDC.
Over the last decade, the Office of Rare Diseases Research has fielded thousands of inquiries about undiagnosed diseases in patients who were referred from around the country. Since the UDP program launched, it has led to the discovery and description of two unknown diseases, and 15 genes not previously associated with human diseases have been identified.
NIH wants researchers funded under these new grants to seek out a mechanistic understanding of what these genes do in relation to the disease of interest, how genetic variation impacts gene expression, and how particular genes and variants are involved in disease pathogenesis.
These projects may include a wide range of genetics-related disciplines, such as efforts to characterize the function of genes and variants using integrated omics approaches; studies of expression patterns of genes and their protein products and their upstream and downstream regulation; the use of model organisms to assess how gene variants may contribute to the disease etiology, pathophysiology, and phenotype; and explorations of how disease-related gene variants contribute to abnormal gene expression or function in patient bio-specimens.