Genetic Superheroes May Hold The Key To Fighting Disease

GDoc link: Genetic Superheroes May Hold The Key To Fighting Disease

Are you Resilient?

It sounds like something out of a dystopian novel, but genetic superheroes actually exist, and The Resilience Project has the genome study to prove it. In a study of over half a million genomes, scientists found 13 healthy people with genetic mutations that should have led to deadly childhood diseases - but somehow, these resilient people have lived into adulthood.

Genetic Superheroes and Disease

The 13 study participants who showed resilience had mutations for eight different severe childhood genetic disorders, including cystic fibrosis, Smith-Lemli-Opitz syndrome, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome and atelosteogenesis.

If the participants had been suffering from any of those diseases, genetic data in their health records would have indicated that. Such debilitating conditions could not have escaped mention.

Learning how and why these lucky few were able to avoid devastating childhood illnesses could hold the key to treating others with the mutations.

“Usually in scientific studies, we start with a disease and try to figure out the genetics behind it,” says Brian Naughton, study co-author and the founding scientist at 23andMe. “This study is very unusual in taking the opposite approach. By finding healthy people with what

should be disease-causing mutations, we get a more complete picture of the disease and we may even learn what makes some people resistant.”

"If you're going to try to look at what protects people from getting disease, it is not necessarily the right thing to look at those who have disease,” says genomics researcher Stephen Friend, leader of the Resilience Project. “The right thing to do would be to look at those who have not gotten sick."

Stephen Friend. (Credit: Source.)

Are You a Genetic Superhero?

Just who are these evolutionary wonders? Scientists would like to know, too.

Most of the genomes studied by the Resilience Project came from people identified by DNA alone; no names or contact information was provided.

You can imagine the level of frustration,” says Dr. Friend. “It is almost as if you got to take the wrapping off the box but you couldn’t open the box.”

The bulk of the study’s genetic data came from people who provided their DNA to the consumer genetics company 23andMe. 23andMe offers detailed DNA analysis to consumers seeking information about their genetic makeup and history. When participants submitted their saliva for DNA sequencing, the company asked if it could also use their DNA for anonymous research. It did not ask if the participants’ personal and contact information could be shared.

“The last ‘generation’ of consents and corresponding sample collection for these kinds of

large-scale studies were done without recontact in mind,” says genetics researcher Jay Shendure.

Jay Shendure. (Credit: Source.)

Other sources of DNA in the study came from participants who had declined recontact for any reason. Unfortunately, the few who did consent to recontact were not among the 13 resilient individuals found in the study.

Without the ability to contact the 13 genetic superheroes, scientists are unable to rule out testing errors, faulty records, or the possibility that the genetic defect affects only some cells in the body.

What Now?

Since 23andMe’s consent agreement doesn’t explicitly bar recontact, the Resilience Project has asked the company to reach out to the participants whose genetic data contains resilient mutations.

“While we regularly recontact research participants,” 23andMe said in a statement to WIRED Magazine, “it can sometimes be a complex process, involving significant time and resources and that is the case in this instance.”

Going forward, DNA testing consent forms may include the option for participants to pass along contact information to researchers. “Increasingly, research projects are building

participant engagement into the structure of their research,” says bioethicist Michelle Meyer.

"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,” says Massachusetts General Hospital doctor Daniel MacArthur.

The Resilience Project is expanding its search for people with resilient genes, and it is enlisting the help of the public.

"We hope to get tens of millions of people," says Resilience Project collaborator Eric Schadt. "We think we have to be in the 1- to 10-million-person range to have a good shot to identify enough people across the different diseases to be effective at decoding and uncovering the reasons for their protection."

If you want to be a part of this groundbreaking study, you can sign up on the Resilience Project website to be notified about volunteer opportunities.


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