Superhumans: Living, Despite Having Fatal Genes

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"Super genes" via Shutterstock "Super genes" via Shutterstock

From time to time we hear about these improbable stories -- someone who's left unscathed from a disaster that kills hundreds. Or the window washer who plummets 60 stories on his ill-fated rig, and lives. We then struggle to understand these occurrences, while at the same time we're astonished by the inconceivable luck of the victims. In a way, one might consider these people "superhuman."

In similar fashion, a recent study has uncovered a new subset of people who are genetically superhuman, described as otherwise healthy people who have survived despite having genes that signal fatal diseases.

For the study, published this month in the journal Nature Biotechnology, a team of researchers at the Icahn School of Medicine at Mount Sinai in New York studied the gene make-ups of nearly 600,000 people. They combed through an immense set of genetic data in search of those with resistance to any of roughly 600 Mendelian disorders. In the end, the team found just 13 people who showed resistance to these disorders.

The symptoms of Mendelian disorders -- which stem from the presence of one or several muted genes -- tend to reveal themselves in early childhood. Eight mutations were found in these people, some of which would normally lead to grotesque and often-deadly conditions. One such is Pfeiffer syndrome, where the skull bone fuses too early, and epidermolysis bullosa simplex, wherein one's skin becomes as fragile as a butterfly's wing. But, yet, despite their presence, these gene mutations did not harm the subject.

"Instead of looking at people with disease, you need to look at people who should have gotten sick," Dr. Stephen Friend, who led the study, told the Seattle Times.

Prior to this study, most believed that those with such "completely penetrant" gene mutations were bound to develop such disorders. So those behind the study see promise in future testing of the 13 resilient subjects, and others like them.

Most past studies have sought to find the answers to human disease by looking at the genes of the diseased. Dr. Friend and his team shifted gears in this recent study, with a focus instead on the genes of the healthy who should have gotten the disease.

Dr. Friend has taken an interest in resistant subjects in the past. For years he has worked on The Resilience Project, searching worldwide for healthy people with genes that lead to deadly diseases in most others. But he'll need more than 13 subjects, and much more information, to find answers to such fatal genetic diseases.

As Dr. Michael Bamshad, an expert in medical genetics at the University of Washington, told the Times, "... we will need to identify many, many more such 'resilient' individuals who are willing to openly share their health and genetic data in order to identify what protects them against disease."

Because the 13 disease-resistant subjects did not have the proper consent forms on file, Dr. Friend's team could not reach them for follow-up study. But those who would like to volunteer their genes for study can do so by going to The Resilience Project website. In so doing, they might have the chance of also leave their mark as "genetic superheroes" in disease prevention.