Mount Sinai, Sage Bionetworks analyze nearly 600k genomes

Researchers from the Icahn School of Medicine at Mount Sinai in New York and nonprofit biomedical research firm Sage Bionetworks, based in Seattle, have conducted the largest genome study thus far.

The scientists analyzed more than 589,000 genomes in the first step of the Resilience Project, a collaborative effort between the two organizations and others. The Resilience Project, launched in 2014, aims to conduct genome analysis of a large group of healthy adults to determine if any individuals are unaffected by genetic variants that should cause disease.

Other study contributors include 23andME, BGI, the Ontario Institute for Cancer Research and more.

"Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy," said Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, founding director of the Icahn Institute for Genomics and Multiscale Biology and Resilience Project cofounder. "Millions of years of evolution have produced far more protective mechanisms than we currently understand. Characterizing the intricacies of our genomes will ultimately reveal elements that could promote health in ways we haven't even imagined."

The study's researchers developed a targeted sequencing panel to screen 874 genes for 584 distinct genetic diseases, including metabolic conditions, developmental disorders and neurological diseases. The study identified 13 healthy people who have genetic variants related to eight diseases. The eventual goal is to better understand how genetics could be used to understand how to naturally protect against disease.

"If we could contact these 13 people, we might be even closer to finding natural protections against disease. We anticipate launching a prospective study in the future that will include a more broadly useful consent policy," said Stephen Friend, president of Sage Bionetworks, professor of genomics at the Icahn School of Medicine and cofounder of the Resilience Project.

Click here to learn more about The Resilience Project.

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