SUPERHEROES with powers that come from mutations in their genomes are, like the X-Men (pictured), a staple of comic books and movies. Now an extensive study of the genetics of more than 500,000 people has revealed a different kind of mutant superhero: a small number of individuals who seem to be perfectly healthy despite carrying in their DNA a mutation linked to a severe childhood disorder.
The 13 adults identified were found to have faulty genes associated with one of eight different inherited conditions. These included cystic fibrosis, a disease that interferes with breathing, and atelosteogenesis, which affects bone and limb development. People with the eight different genetic faults can die at birth or shortly after.
Eric Schadt of the Icahn School of Medicine at Mount Sinai, New York, and Stephen Friend of Sage Bionetworks, a non-profit organisation based in Seattle that promotes open science, began their investigation by collecting genetic data from 12 studies carried out by other groups. The data, from European, Asian and American sources that included 23andMe, a biotechnology company, and the Beijing Genomics Institute, yielded...Continue reading
Source: Science and technology http://ift.tt/1TMs6fp
EmoticonEmoticon