Genetic Superheroes Study: 13 Out of 15K Are Real Survivors

Genetic "superheroes" are among us, according to a study released on Sunday that identified a small group of people who remained healthy despite having mutations that should have caused a devastating disease.

The research, published in the science journal Nature Biotechnology, discovered 13 people (out of 15,000) whose genetic alternations should have caused eight serious childhood diseases but they survived healthy to adulthood.

Dr. Stephen Friend, president of Sage Bionetworks in Seattle, and scientists at the Mount Sinai's Icahn School of Medicine in New York, were involved in analyzing the genetic data from nearly 600,000 people from a dozen previous genetic studies, reported the Seattle Times.

Friend told NPR that none of the 13 had agreed ahead of time to allow researchers to contact them after being involved in their initial studies. If the subjects had given consent upfront, researchers might have been able to follow up to determine what enabled them to stay healthy despite their genetics.

"There's an important lesson here for genome scientists around the world: the value of any project becomes exponentially greater when informed consent policies allow other scientists to reach out to the original study participants," Friend said in a Sage statement.

"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." 

Friend and researcher Eric Schadt started the Resilience Project in 2014, which studied massive numbers of healthy adults, so that scientists might find individuals who are unaffected by genetic variants that should induce disease.

"Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy," said Schadt, of the Icahn School of Medicine.

"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." 

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