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Science: ‘Buffer genes’ may protect these 13 people from rare genetic diseases

April 11, 2016

Science: ‘Buffer genes’ may protect these 13 people from rare genetic diseases

By Jocelyn Kaiser

A sweeping look at the DNA of more than half-a-million people has uncovered a surprise: A few individuals carry a genetic glitch that should make them very sick, yet they are instead seemingly healthy. Studying such disease-resistant people could point to new treatments for rare conditions like Duchenne muscular dystrophy. But the researchers behind the new survey caution that without direct access to the individuals in the database they used, they have not been able to confirm their results through further testing.

The study is a first step in the Resilience Project, an effort led by Stephen Friend, president of Sage Bionetworks in Seattle, Washington, and genomics researcher Eric Schadt of the Icahn School of Medicine at Mount Sinai in New York City. They want to find healthy individuals who have genetic mutations that usually cause serious disease in those who carry them, such as those for the lung disorder cystic fibrosis. If a person who has such a mutation is well, he or shemay carry a mutation in a different gene that compensates for, or buffers, the harmful gene’s effect. That protective gene could point to a new therapy for the disease.

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