They are among us: lucky individuals whose DNA make-up predestine them to develop disease or disability but managed to defy the odds of their genetic destiny.
Scientists call them genetic superheroes. They are carriers of mutated genes that guarantee they will get fatal diseases but somehow managed to remain healthy and grow up as healthy adults.
Figuring out how these people beat their odds and overcome their genetic destiny could pave way to finding a cure to the world's worst birth defects. Now, researchers were able to come up with a way to identify these unique individuals who have the amazing but rare ability to resist devastating hereditary diseases.
In a new study, Seattle's Sage Bionetworks President Stephen Friend and colleagues looked at the genetic data of more than 586,000 people and then scanned the DNA for disease-causing mutations.
The researchers eventually identified 13 people with defects believed to always cause eight severe disorders, which include cystic fibrosis, but none of these individuals appeared to have developed signs of the conditions.
What makes these individuals, who may not even be aware of their own special status, immune to their biological inheritance is still a mystery but the researchers think that some factors are at play that help protect them against the consequences of their inherited mutations.
Something else in these individuals' genes, for instance, may be suppressing the impacts of the disease-causing genes. It is also possible that environmental factors are at work.
"There must be some protective element for them to have escaped the severity of the symptoms that would have been expected," Friend said.
In their report published in the journal Nature Biotechnology on Monday, the researchers said that their findings show genetic studies may hold the key to disease treatments.
"Our findings demonstrate the promise of broadening genetic studies to systematically search for well individuals who are buffering the effects of rare, highly penetrant, deleterious mutations," the researchers wrote.
"The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies."
Unfortunately, the researchers could not get in touch with any of the 13 individuals because they took parts in studies that did not involve re-contact clause. This means they could not be interviewed, nor examined to verify the accuracy of the genetic information that the researchers have gathered.
Friend and colleagues, however, remained optimistic. They are now planning for another study, which would allow them to follow up with the participants.
