Scientists Find Genetic Mutants Who Are Immune to Heritable Diseases

Thursday, 14 April 2016 - 2:00PM
Weird Science
Genetic Engineering
Thursday, 14 April 2016 - 2:00PM
Scientists Find Genetic Mutants Who Are Immune to Heritable Diseases
Have scientists discovered a real-life version of the X-Men? A recent genetic study uncovered a small proportion of individuals with "superhero DNA," which renders them effectively immune to genetic diseases.

For the study, researchers analyzed the genomes of individuals from several different studies, almost 600,000 in total. They found that 13 of these individuals had the genotype that indicated they should have presented with one of eight devastating (sometimes life-threatening), genetic diseases. But all of these individuals were healthy, indicating that they have some other protective DNA that prevents heritable diseases from presenting.

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"Millions of years of evolution have produced far more protective mechanisms than we currently understand," co-author Dr Eric Schadt from the Icahn School of Medicine at Mount Sinai Hospital told BBC News. "Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy."
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The eight diseases in question were cystic fibrosis, Smith-Lemli-Opitz syndrome, familial dysautonomia, epidermolysis bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia, and atelosteogenesis. According to widely accepted scientific belief, the genetic markers for these diseases are "completely penetrative," meaning that 100% of the individuals who have the gene should present with the disease. But this tiny portion of healthy carriers demonstrates that these mutations are only "highly penetrative," and that studying these individuals could lead to a better understanding of the diseases and more effective treatments.
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"The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies," the authors wrote in their paper, published in Nature Biotechnology
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Judging from this study, these "resilient individuals" (which sounds like a euphemism for a superhero in a gritty sci-fi movie) make up only .002% of the population. As a result of this small sample size, it's difficult for the scientists to determine the exact mechanism of this resiliency. So they plan to do an even more comprehensive survey that will span genetic tests worldwide, and institute a plan for gaining consent to contact the "resilient" subjects for further study.

Opening quote
"The extremely rare frequency of candidate resilient individuals in this retrospective study supports the intuitive notion that securing larger numbers of candidates would require analyzing all data worldwide being generated by genotyping and next-generation sequencing methods. A number of existing projects, such as the Human Knockout Project37, The Million Veterans Program38 and the large UK Biobank Project39, all stand to contribute considerably to this type of effort."
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