Some people are healthy despite having genes that give other people rare diseases Forest Woodward/Getty
They鈥檙e the lucky 13 鈥 a baker鈥檚 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鈥檛 develop the associated diseases as children.
Each has mutations that usually lead to one of eight diseases, including cystic fibrosis, 鈥 which is associated with learning difficulties 鈥 and a bone disorder called .
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Hidden identity
These people may show no symptoms because they have mutations elsewhere in their genomes that override the detrimental ones, or perhaps their environment has somehow protected them from developing disease. A better understanding of this could lead to new treatments, but to do this, Friend says we need a new approach: 鈥渟tudy the healthy 鈥 don鈥檛 just study the sick.鈥
There may be another explanation, though 鈥 some mutations might not be as severe as we thought. Deborah Gill of the University of Oxford says cystic fibrosis can vary in severity. She thinks many people could have these mutations but lack obvious clinical symptoms.
Unfortunately, Friend鈥檚 team is unable to trace down the 13 individuals for further study, because the volunteers weren鈥檛 asked to give their consent for further contact when they donated their samples. So for now, their identities will remain a mystery.
Journal reference: Nature Biotechnology, DOI: 10.1038/nbt.3514
Read more about the quest to find genetic superheroes and the volunteers who donated their DNA
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