How Do Genomic Variations Influence Our Health?

Take any two people, and their genome sequences will be more than 99.9 percent identical. But the differences in the remaining 0.1 percent of their DNA—combined with the environment in which they live and their lifestyles—ultimately shape their unique physical features and individual disease risks.

That’s why the National Institutes of Health announced recently that it will dedicate about $185 million over five years to a research consortium that will investigate how genomic variation alters human genome function, and how those variations influence human health and disease.

The funding will come from NIH’s National Human Genome Research Institute, which will provide 25 awards to 30 sites across the country through the Impact of Genomic Variation on Function (IGVF) Consortium.

Within the 0.1 percent variation between any two people’s genomes, researchers have found millions of variants that differ across the world, including thousands associated with diseases. The IGVF consortium will use experimental methods and advanced computer models to uncover the impact and influences genomic variation has on genomic function, advancing network-level understanding of its influence and creating new predictive models of its impact.

NHGRI plans to create a resource featuring data, tools, and models on variant impacts through which the greater research community can conduct further research on the impact of genomic variants.

“Biomedical researchers have recently made remarkable advances in the experimental and computational methods available for elucidating genome function,” said Carolyn Hutter, director of the NHGRI Division of Genome Sciences. “Together they will leverage these advances to tackle an incredibly challenging and important series of questions related to how genomic variation influences biological function.”

Among those receiving funding through the consortium are researchers from Yale, Stanford, and Duke.