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PBS: These 13 adults escaped deadly genetic childhood disorders, but how?

April 11, 2016

PBS: These 13 adults escaped deadly genetic childhood disorders, but how?

BY NSIKAN AKPAN  April 11, 2016 at 12:28 PM EDT

Scientists have identified 13 so-called “superheroes” — adults with disease-causing mutations who are mysteriously healthy — from a genetic survey of half a million people. Their resilience could hold clues to treating severe conditions like cystic fibrosis, but due to a technicality, they can’t be fully studied. The findings were published today in the journal Nature Biotechnology.

“Millions of years of evolution have produced far more protective mechanisms than we currently understand,” genomicist and study co-author Eric Schadt of the Icahn School of Medicine at Mount Sinai in New York City said in a statement. “Characterizing the intricacies of our genomes will ultimately reveal elements that could promote health in ways we haven’t even imagined.”

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