Among half a million people, lucky 13 found with mutations but no symptoms
Some people can evade diseases even though they carry genetic mutations that cause serious problems for others.
Researchers found 13 of these genetic escape artists after examining DNA from nearly 600,000 people, the scientists report online April 11 in Nature Biotechnology. Learning how such people dodge genetic bullets may help move inherited-disease research from diagnosis to prevention.
Hundreds of mutations that lead to genetic diseases have been uncovered since the discovery of a disease-causing flaw in the “cystic fibrosis gene” in 1989. But, says study coauthor Stephen Friend, “finding the gene that causes the disease is not the same as finding a way to prevent the symptoms or manifestations of that disease.”
Clues to preventing genetic diseases could come from studying people who should have gotten sick but didn’t, suggest Friend, of the Icahn School