April 11, 2016

The Guardian: Scientists search for 13 people to solve genetic mutation mystery

The Guardian: Scientists search for 13 people to solve genetic mutation mystery

By Tim Radford April 11, 2016

A massive study of more than half a million people who might carry genetic mutations for 584 devastating childhood diseases has identified 13 who have mutations for severe conditions – but none of the symptoms of the disease.

The implication is that there could be something in the human genetic makeup that means even those who inherit the mutation for severe conditions such as cystic fibrosis (CF) never go on to develop the disease. If so, the identification of the genetic factors that permit survival could lead to new treatments.

Poignantly, the 13 may not know of their own special status: they took part in genetic surveys but signed nothing that permitted a second contact with researchers.

But, says Stephen Friend of Sage Bionetworks in Seattle, Washington, the findings mean that a more systematic search can begin. He is one of 30 scientists who report in the Nature Biotechnology journal on a vast retrospective search for individuals who might be resilient to the hazards of inheritance. The scientists gathered material already available through existing surveys and selected data from healthy adults. They gathered data from the commercial genetics firm 23andMe, the Ontario Institute for Cancer Research, the 1000 Genomes Project and others. Their data included the entire genomes of individuals, more limited surveys of those genes that express a protein, and selective searches for particular mutations.

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