A major study that analyzed more than half a million people who could be carrying genetic mutations for 584 severe childhood diseases has identified 13 who do present the mutations for the devastating conditions without the symptoms of the disease.
The implication of this discovery is that something in the human genetic makeup could prevent people who inherit the mutation for severe conditions – such as cystic fibrosis – to ever develop the disease.
If that hypothesis is confirmed, identifying the “guilty” genetic factors that lead to survival could spur the development of new treatments.
Somewhat intriguing is the fact that the 13 may not even be aware of their special status; they just took part in different genetic surveys but never signed something that could allow researchers to contact them with a follow-up.
But according to Stephen Friend of Sage Bionetworks in Seattle, Washington, the findings should be enough to prompt a systematic search of the 13 subjects.
He and other 29 scientists have reported in the Nature Biotechnology journal on a massive retrospective search for survey participants who might be immune to the hazards of inherited diseases.
They gathered data from existing surveys conducted by commercial genetics firm like 23andMe, the 1000 Genomes Project, the Ontario Institute for Cancer Research, and others. They were on the lookout for healthy people who carry the genes of “severe, early-onset and often highly lethal illnesses.”
Researchers had chosen childhood diseases because participants of DNA testing are adults, so there’s no chance the conditions had not manifested themselves.
Buried in the 589,306 genetic samples they combed through for evidence, the team found 13 people who carried mutations for eight of 584 diseases they were looking for – none of them showed symptoms, however.
It’s still a mystery what causes immunity to their own biological inheritance. Scientists believe that some particular factor in their genetic makeup acts as a buffer against the consequences of an inherited mutation.
Thanks to the more advanced tools, researchers can look for people who should be sick, and finding them could be a starting point for searching for genome mutations that could give them ideas for better therapies.
As Stephen Friend said, “Study the healthy. Don’t just study the sick.” His co-author, Eric Schadt of the Icahn School of Medicine at Mount Sinai, said that while most genetic studies focus on identifying the cause of a disease, the new study saw a tremendous opportunity in finding out what keeps people healthy in spite of all odds.
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