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NHLBI Seeks Better, Cheaper Genetic Variant Screening Tools

NEW YORK (GenomeWeb News) – The National Heart, Lung, and Blood Institute plans to provide $5 million over the next two years to fund research projects aimed at developing better and cheaper methods for screening genetic variants that play roles in diseases.

The two-phase grant program will fund milestone-driven projects to explore new methodologies and then develop them into functional assays through proof-of-concept studies under a second round of funding. It will provide up to $275,000 over two years to fund initial exploratory phase projects, and later NHLBI will award up to $1 million for three-year follow-up projects that develop these variants and corresponding assays.

These efforts will aim to conduct functional analyses of variants that have already been identified and are related to heart, lung, blood, and sleep (HLBS) phenotypes using in vitro or animal model systems.

NHLBI said in the new funding announcement that genome-wide association studies, whole exome sequencing, and exome genotyping studies are identifying a large number of genetic variants connected to HLBS diseases and that it has "significantly invested" in genomics research and technologies to identify variants connected to these diseases.

However, NHLBI said, the challenge is in recognizing which of these variations have a direct functional effect, as opposed to a mere association with a phenotype. If researchers want to conduct in-depth studies of how these variants are related to disease and function, they will need more effective and less expensive methods for screening them, said the institute.

"Improved genes-to-function screens are critical to accelerating the translation of genomic findings, by making screens of genes and variants for altered physiological function faster, cheaper, and more accurate," NHLBI said.

Investigators seeking funding will identify specific coding or non-coding variants that they will test and may propose using in silico approaches for predicting their deleterious effects, as well as using animal model or gene expression databases to identify and prioritize these variants for further study.

The assays they develop may range from the molecular to imaging of tissue and organ function, and may be in vitro or in vivo in relevant animal models or cell-free biochemical assays.

The model systems they propose for the functional assays may either be based on a model organism, such as Drosophila, C. elegans, zebrafish, and others, or may be based on a cell or tissue-based culture system.

The applicants also will be expected to provide detailed plans for disseminating their screening tools and sharing them with the research community.