No less than thirteen people are walking around the world somewhere with superhuman DNA. DNA that is wholly and completely resistant to Mendelian disorders, like cystic fibrosis. While these thirteen (so far) could potentially save a number of lives and make a life for hundreds of thousands, the researchers just don’t know who they are and if they knew they were one of the thirteen they could likely walk into a large pharmaceutical company and walk out with a check with (nine?) lots of zeros.
Anonymity standards keep the superhuman DNA holders unavailable
Those carrying this superhuman DNA should be susceptible to these childhood diseases, but are seemingly immune. There are likely considerably more than thirteen worldwide, but researchers have only combed through the DNA of a bit more than 500,000 in a public database.
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Unfortunately for the researchers, sufferers, and the carriers of these supergenes, regulations regarding anonymity of these databases are pretty strict and they are likely to remain unknown. It’s not like someone who one day finds out they can walk through walls or become invisible, their major accomplishment is not having a fairly rare childhood disease like many of us, so it’s pretty tough to say, “I bet I’m one of them.”
What are Mendelian disorders?
Gregor Johann Mendel first proposed the idea of disorders that begin in early childhood and are generally caused by a defect in just a single gene. Mendel proposed the idea in 1865 and then rediscovered their existence in 1900.
Essentially, they occur in families with a pattern for inheriting this single causative gene. Normal circumstances dictate that anyone carrying this ‘completely penetrant’ gene will succumb to the illness or disorder.
Cystic Fibrosis is one of the most common Mendeliaan disorder, which causes the lungs and digestive system to fill with mucus. It affects roughly on in 2,700 in the Western world.
“The researchers could not re-contact the majority of resilient individuals for further study because of a lack of necessary consent forms,’ Dr Daniel MacArthur, from Massachusetts General Hospital said to the Daily Mail after reading the recent report.
“If we could contact these 13 people, we might be even closer to finding natural protections against disease. We anticipate launching a prospective study in the future that will include a more broadly useful consent policy.”
“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,” he concluded.
What is the Resilience Project?
By studying the genomes of 589,000 people, the researchers and scientists involved in the Resilience Project were looking to identify people that seemed immune to genetic triggers to certain diseases. After further review of their genomes, they found nothing that would keep them from naturally protecting themselves against these genetic disorders.
“Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy,” Resilience Project co-founder Professor Eric Schadt, from the Icahn School of Medicine at Mount Sinai, New York City said in a recent statement.
“There’s an important lesson here for genome scientists around the world: the value of any project becomes exponentially greater when informed consent policies allow other scientists to reach out to the original study participants,’ said Professor Stephen Friend, also a co-founder of the project from the Icahn School of Medicine.