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Got the gene, but not the disease

2016-06-30 23:59

THEY셊E the lucky 13 a baker셲 dozen of genetic superheroes who are healthy despite having mutations that normally cause genetic disease.
By analysing samples from almost 600,000 apparently healthy volunteers, Stephen Friend at Sage Bionetworks
in Seattle and his colleagues have discovered 13 unusual people. Each carries genetic mutations that usually lead to
one of eight devastating genetic diseases, such as cystic fibrosis, but shows no symptoms (Nature Biotechnology, DOI: 10.1038/nbt.3514).
This could be because other genes are having a protective effect. Identifying these could lead to new treatments. But to do this, we need a new approach, says Friend: 쏶tudy the healthy don셳 just study the sick.
There could be another explanation, though 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 there might actually be lots of people carrying some of these mutations but lacking obvious clinical symptoms.
Source : New Scientist