“Bench to Bedside to Bench—And Back Again”

In the era of genome sequencing, it's time to update the old "bench-to-bedside" shorthand for how basic research discoveries inform clinical practice, researchers from The Jackson Laboratory (JAX), the National Human Genome Research Institute (NHGRI), and institutions across the U.S. declare in a Leading Edge commentary published in the March 23, 2017 issue of Cell. The article is titled “Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.” "Interactions between basic and clinical researchers should be more like a 'virtuous cycle' of bench to bedside and back again," says JAX Professor Carol Bult, Ph.D., senior author of the commentary. "New technologies to determine the function of genetic variants, together with new ways to share data, mean it's now possible for basic and clinical scientists to build upon each other's work. The goal is to accelerate insights into the genetic causes of disease and the development of new treatments." Genome sequencing technologies are generating massive quantities of patient data, revealing many new genetic variants. The challenge, says commentary first author Teri Manolio, M.D., Ph.D., Director of the NHGRI Division of Genomic Medicine, "is in mining all these data for genes and variants of high clinical relevance." In April 2016, NHGRI convened a meeting of leading researchers from 26 institutions to explore ways to build better collaborations between basic scientists and clinical genomicists, in order to link genetic variants with disease causation. The Cell commentary outlines the group's recommendations, which include promoting data sharing and prioritizing clinically relevant genes for functional studies.
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