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New Scientist: The genetic superheroes who have mutations but not the disease

April 11, 2016

New Scientist: The genetic superheroes who have mutations but not the disease

They’re the lucky 13 – a baker’s dozen of genetic superheroes who are healthy despite having mutations that normally cause genetic disease.

Some genetic diseases like cystic fibrosis are caused by having two faulty copies of just one gene, and can have devastating symptoms. But by analysing samples from almost 600,000 apparently healthy volunteers, Stephen Friend at Sage Bionetworks in Seattle and his colleagues have discovered 13 people who unknowingly have dangerous mutations but didn’t develop the associated diseases as children.

Each has mutations that usually lead to one of eight diseases, including cystic fibrosis, Smith-Lemli-Opitz syndrome – which is associated with learning difficulties – and a bone disorder called Pfeiffer syndrome.

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