An analysis of genetic data from more than half a million people has uncovered 13 individuals who have disease-causing mutations but are healthy.

Mendelian diseases such as cystic fibrosis begin in childhood, can be caused by a single mutation and lack effective treatments. Rong Chen at the Icahn School of Medicine at Mount Sinai in New York City and his colleagues looked for mutations in 874 genes — linked to nearly 600 childhood genetic diseases — in roughly 589,000 people. They found 13 resilient people with mutations that usually cause 1 of 8 severe Mendelian diseases.

Further study of such individuals could lead to discoveries of gene variants that protect against disease, and could even lead to new treatment strategies, the authors say.

Nature Biotechnol. http://dx.doi.org/10.1038/nbt.3514 (2016)