Monday, April 18, 2016

DNA That Could Make Us Superheroes

So who wants to be a superhero?

Turns out, there is a specific DNA series that can protect us from debilitating diseases.  In a recent study, approximately 600,000 genomes were sampled.  Within these samples, about 13 adults were found to harbor mutations for severe diseases.  However, these adults were not sick at all and showed no traits of the disease they were supposed to have.  This diseases include: cystic fibrosis, Smith-Lemli-Opitz syndrome, familial dysautonomia, epidermolysis bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia and atelosteogenesis.

So how in the world are these adults protected from these diseases?

Mutations in the individual genomes from the study are likely the answer.  Although mutations can cause diseases, they have also led to some incredible results.  So in essence, the next step would be to identify the specific gene mutations within these genomes in order to determine how exactly these people are protected from serious diseases they should have.  Easy enough, right?

Except that everyone in this study signed a consent form, so that no names would be used.  Therefore, the scientists can't go out and find the 13 "superheroes" from this study.

As a result, the research group states in their paper, "In prospective searches for resilient individuals, more appropriate consenting will be needed to link participants to their medical records and to allow for appropriate recontacting that enables follow-up characterizations, validation of their resilient condition and decoding to uncover the causes of the resilience".  Unfortunately, this raises some ethical questions.  Normally, names and identities are kept in secrecy to prevent any data on these individuals getting out and causing harm in anyway to said person.  With this study, these parameters would be slightly changed.  "[the study] exemplifies the often unforeseen benefits that can be achieved from responsible sharing of anonymized genetic and clinical data," said Dr Matthew Hurles, from the Wellcome Trust Sanger Institute.  "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."

So the prospect of being a superhero could be a possibility after all.  Unfortunately, it wouldn't come with the abilities of flying, heat vision, super strength, or wearing a cape.  But, a superhero who is protected from numerous DNA-linked diseases and could help numbers of people get cured from said diseases sounds pretty great to me.

You can read the article that summarizes the paper here:
http://www.bbc.com/news/health-36015243

You can read the published research paper here:
http://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.3514.html