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Genetic Superheroes May Hold The Key To Fighting Disease

Genetics

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

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  • Jessica Neuman Beck is a writer, web designer and coffee addict from Portland, OR. She does not like cilantro. She has two kids and two cats, all of whom have opposable thumbs. It vexes her when people say “less” when they mean “fewer.”

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