Like a computer following its programming, our bodies follow the instructions coded into our DNA, no matter the consequences. But some rare folks might have a "superhero DNA," which protects them from certain genetic diseases, even while they carry the mutations that usually cause those diseases.
A team from Mount Sinai Hospital in New York decided to approach their study from the back. Instead of studying sick people, they studied healthy people, hoping to find people who had genetic mutations that should have caused diseases like cystic fibrosis and yet have remained healthy. The idea was to find out what was protecting them.
Initially, the team sifted through a database of 600,000 DNA samples, and found 13 people who were harboring "mutations for eight severe Mendelian genetic conditions." A new paper, published in Nature, details the process, and concludes that such "resilient" individuals are likely more common than previously thought. The problem, though, is that like real superheroes, the identities of these 13 people remain secret. The DNA database used for the study is locked by consent rules protecting the identities of the subjects.
So the team started over, running a new study, this time with known patients who can be contacted if they are found to have superhero DNA. Called the Resilience Project, the study uses relatively cheap DNA testing technology to screen volunteers. You can sign up and the team will send a cheek swab kit out to you, which you threw return for testing.
By determining just how these people manage to resist the programming of their genes, it might be possible to apply the same benefits to anyone. "Finding and studying these resilient individuals could pave the way to disease prevention and new treatments," says the team. Scale is the most important factor here. To uncover the rare resilient individuals, the Mount Sinai team needs to test as many samples as it can get.
"Finding these individuals is a starting point to searching for the other changes, e.g. in the genome, that might give us clues to develop therapies," said Stephen Friend, one of the paper's authors.
Aside from the eight diseases in the initial tests, this approach may also be able to help with other diseases, like dementia and AIDS.