After trawling through data from more than half a million people, looking for genetic mutations that would ordinarily cause the patient to suffer from severe childhood diseases, researchers have discovered something astonishing: 13 of the people have mutations to some of these crippling diseases, but suffer none of the symptoms. This raises the fascinating question of whether some people are somehow immune to certain genetic diseases, and if this could somehow be harnessed as a new treatment.
The research, published in Nature Biotechnology, used data from various sources including 23andMe, the 1000 Genomes Project, and the Ontario Institute for Cancer Research. This set included a mixture of data, from full genomes of individuals, to profiles searching for individual genes responsible for genetic diseases. The researchers focused on 874 genes linked to 584 conditions that are severe and early-onset. All the diseases selected are caused by just one or two mutations in a patient's DNA.
Then, they scanned the data of 589,306 people, who by nature of being on these databases were already adults and thus not suffering from these childhood conditions, for these mutations. Amazingly, they found that 13 of the participants tested positive for one of eight genetic diseases: cystic fibrosis, Smith-Lemli-Opitz syndrome, familial dysautonomia, epidermolysis bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia, and atelosteogenesis. Yet the adults were seemingly healthy.
But there is no way to find the participants, who are almost certainly unaware of their incredible status, as none of the people involved in the study signed an agreement to allow a second contact by the researchers. They write: “The researchers could not recontact the majority of resilient individuals for further study because of a lack of necessary consent forms.
“Finding genetic superheroes will require other kinds of heroism – a willingness of participants to donate their genomic and clinical data and a commitment by researchers and regulators to overcome the daunting obstacles to data sharing on a global scale.”
This issue is a major roadblock for the study. If they could recontact the people in question, they would be able to discover if the results were just an error in reading their DNA, bad record keeping, or whether or not they actually had mild versions of the diseases for which the symptoms were masked. “This paper asks an intriguing question,” says Dr. Ada Hamosh, Professor and Clinical Director at Johns Hopkins University. “[But] because of the inability to confirm the source or validity of the variants and the inability to recontact the individuals, this paper does not constitute a proof of principle.”
But what the study does do is give a starting point, and raise the possibility that there might well be people out there who are somehow protected against inherited diseases. The next step now is to start a new project from scratch, and test healthy adults who have given their consent for recontact for these diseases. This will allow them to estiblish if some people really are resistant to genetic diseases, and whether or not this is somehow dervived from their own DNA, or possibly some other environmental factor.