One of the thorniest issues of biology — learning how differences in DNA sequences among individuals affect how genes are expressed in their bodies’ tissues — is also one of the most important. That’s because these genetic variants make up the fabric of who we are — they influence everything from eye color and height to our likelihood of developing various diseases.
For the past seven years, Stanford geneticists Stephen Montgomery, PhD, Michael Snyder, PhD and Jin Billy Li, PhD, have worked with a consortium of researchers from 30 institutes, including Johns Hopkins University, the University of Pennsylvania, Princeton University, the University of Chicago and MIT’s Broad Institute to correlate the levels of gene expression in over 40 distinct human tissues with the genome sequence from over 400 individuals from whom the tissues were obtained.
Now Montgomery, Synder and Li are the senior or co-senior authors of four of a series of eight papers published today in Nature, Nature Genetics and Genome Research announcing the findings of the Genotype-Tissue Expression, or GTEx, Project. They believe the data provided by the years’ long endeavor will likely transform our understanding of how diseases arise and may eventually change the way medicine is practiced.
As Montgomery explained in our release:
We’ve known for years that certain genetic variants confer increased risk for a variety of diseases but until now we didn’t know in which tissues these variants exerted their effects. As genes vary in their levels of expression or activity among the many tissues of the human body, we’ve now been able to identify where variants exert their effects and connect this variation to complex human traits and diseases.
The GTEx Project is supported by the National Institute of Health’s Common Fund, which is meant to address challenging, high-priority biomedical problems outside the scope of any one institute alone, but that, when solved, will benefit researchers throughout the field.
“These studies will allow us to understand the differences among individuals at a level that has never before been achieved,” said Snyder. “These differences manifest themselves as molecular signatures that will ultimately enable us to better treat many human diseases.”
Previously: “An extremely interesting time to be a geneticist”: Using big data to identify rare diseases, Tissue-specific gene expression focus of Stanford research, grant and RNA editing: Many mysteries remain
Photo by Art Poskanzer