April 12, 2016
New Study Says Genetic Superheroes Live Among Us And They Could Help The Sick

We'd all like to believe that the superheroes we see on TV and in the movies are real: special people with rare abilities who can protect mankind. In a new study, scientists may have discovered 13 genetic superheroes hiding among us.

And those genetic superheroes probably have no idea how special they are.

The study identifies 13 anonymous people who, in a great unsolved mystery, were able to dodge devastating and sometimes fatal genetic diseases that should've hit them in childhood, BBC reported. Instead, they survived to be apparently very healthy adults.

There is one problem with these claims, however. Scientists gathered data from numerous studies, and those who participated can't be identified, nor can anyone attempt to track them down. Therefore, researchers aren't 100 percent certain these genetic superheroes are truly resilient.

So for now, they will continue to live among us, unknown, with a potentially powerful solution to many of humanity's devastating diseases. Dr. Matthew Hurles said that being able to share genetic data has "unforeseen benefits" when scientists can contact the "resilient individual" to figure out how they stayed healthy.

"This poses research and ethical questions. Personally, if I were that individual, I'd happily share my genome if it could help someone else who had been dealt a less favorable genetic hand."
The study was spearheaded by Sage Bionetworks and Dr. Stephen Friend, the Seattle Times reported. Researchers examined data from a dozen genetic studies that included 600,000 individuals. They searched for anyone resistant to 584 Mendelian disorders (diseases that strike in childhood and are caused by a single gene mutation). They also looked at 874 genes for penetrant mutations (anyone who has these mutations will inevitably develop the disorder).

At first, they found 15,000 contenders. Upon further inspection, the number shrunk to 13.

Friend approached the study with one mantra in mind: "Instead of looking at people with disease, you need to look at people who should have gotten sick." Their DNA could help doctors prevent or treat genetic diseases.

"Millions of years of evolution have produced far more protective mechanisms than we currently understand," said Dr. Eric Schadt. "Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy."

The illnesses the study looked at are among the human body's most devastating: lung disorder cystic fibrosis; the blistering disease called epidermolysis bullosa simplex; developmental disorder Smith-Lemli-Opitz syndrome; a disease that causes skull bones to fuse early, called Pfeiffer syndrome; autoimmune polyendocrinopathy syndrome, an autoimmune disorder; and others.

These illness are so severe that study authors claim it's "highly unlikely that such an individual would have manifested the disease without it being clearly annotated in their health records."

Because the study couldn't follow up with these apparent genetic superheroes, scientists don't really know why they didn't develop diseases that should've been inevitable.

One explanation, according to Scientific American, is that they have other genes that suppress the disease-causing mutations. Another theory is that they have very mild symptoms, and their doctors haven't diagnosed them.

Unfortunately, researchers can't prove that these 13 individuals are anything special; the results could actually be errors in testing or the result of bad record-keeping. They intend to do another study, and this time, the participants will be traced.

Daniel McArthur, an expert in medical and population genetics, is a bit skeptical. The first study was huge, but only uncovered 13 supposed genetic superheroes. He doubts many such people exist or can even be found.

"Finding genetic superheroes will require other kinds of heroism -- a willingness of participants to donate their genomic and clinical data and a commitment by researchers and regulators to overcome the daunting obstacles to data sharing on a global scale."
Maybe, like many superheroes, they will remain in hiding -- right under our noses.

[Photo By Sergey Nivens/Shutterstock]