After trawling through data from more than half a million people , looking for transmissible mutations that would normally cause the patient to suffer from severe puerility disease , researchers havediscovered something astonishing : 13 of the people have mutations to some of these disabling diseases , but suffer none of the symptoms . This put forward the bewitching question of whether some hoi polloi are somehow immune to certain genetic diseases , and if this could somehow be harness as a newfangled treatment .
The research , published inNature Biotechnology , used data point from various sources including 23andMe , the 1000 Genomes Project , and the Ontario Institute for Cancer Research . This readiness included a mixture of data , from full genome of individuals , to profiles searching for individual genes responsible for genetic disease . The researchers focused on 874 factor linked to 584 conditions that are stern and early - onrush . All the diseases pick out are due to just one or two mutations in a affected role ’s DNA .
Then , they scanned the data of 589,306 the great unwashed , who by nature of being on these databases were already adult and thus not suffer from these puerility condition , for these mutations . surprisingly , they find that 13 of the participants tested positive for one of eight familial disease : cystic fibrosis , Smith - Lemli - Opitz syndrome , transmitted dysautonomia , epidermolysis bullosa simplex , Pfeiffer syndrome , autoimmune polyendocrinopathy syndrome , acampomelic campomelic dysplasia , and atelosteogenesis . Yet the adults were apparently intelligent .
But there is no way to find out the player , who are almost certainly unaware of their incredible status , as none of the the great unwashed involved in the study sign an agreement to allow a 2nd contact by the researchers . They write : “ The researchers could not recontact the majority of resilient individual for further study because of a lack of necessary consent forms .
“ regain genetic superheroes will call for other kinds of heroism – a willingness of participants to donate their genomic and clinical data and a commitment by researchers and regulators to get over the daunting obstacles to information sharing on a global scale leaf . ”
This military issue isa major roadblockfor the subject . If they could recontact the people in question , they would be able to fall upon if the resolution were just an fault in reading their DNA , bad platter retention , or whether or not they really had mild versions of the diseases for which the symptom were mask . “ This paper asks an intriguing motion , ” says Dr. Ada Hamosh , Professor and Clinical Director at Johns Hopkins University . “ [ But ] because of the inability to support the seed or validity of the variants and the inability to recontact the individuals , this paper does not constitute a proof of principle . ”
But what the subject does do is give a start point , and raise the opening that there might well be people out there who are somehow protect against inherited disease . The next step now is to start a new task from scratch , and test healthy adults who have given their consent for recontact for these disease . This will permit them to estiblish if some multitude really are resistive to genetic disease , and whether or not this is somehow dervived from their own DNA , or possibly some other environmental gene .
