A tiny number of people in the world carry genetic mutations that were thought to guarantee the development of severe childhood diseases, but these people do not actually have these diseases, according to a new study.
In the study, researchers looked at the genetic data from more than half a million people from around the world. Scientists found 13 adults who carried the exact genetic mutations that cause diseases such as cystic fibrosis, which severely affects the lungs and digestive system, or a condition called Pfeiffer syndrome, which affects the bones of the skull. But despite the mutations, these adults had not developed the diseases, abc online reported.
The results may be the first step toward identifying ways to prevent other people who also have these mutations from developing such diseases, researchers said.
“If you want to develop therapies for prevention, if you want to come up with ways of not just finding the cause, but [also] ways of preventing the manifestations of disease,” then these individuals may help find a way, Stephen Friend, a co-author of the study and a researcher at Sage Bionetworks in Seattle, said in a press briefing about the new study.
“We now have tools that allow us to search for people who should have gotten sick” but didn’t, he said.
The idea of the new research was, “study the healthy, don’t just study the sick,” Friend said.
In the study, researchers looked at the genetic data of about 589,000 people. The information came from 12 previously collected data sets. Researchers said they wanted to see if, among these people, there were any individuals who remained healthy despite carrying certain genetic mutations linked to severe childhood disorders.
They focused on diseases that are caused by mutations in a single gene, and have severe symptoms that generally show up early in childhood.
In their search, the investigators found three adults who did not have cystic fibrosis, despite having mutations on both copies of the CFTR gene, which normally causes the condition, according to the study, published on April 11 in the journal Nature Biotechnology.
