We know that errors in our DNA lead to certain kinds of conditions and diseases. In the quest to understand these mutations (and how to combat the diseases that they cause) scientist have mostly focused on errors in our code of life and the people who get sick as a result. Now they’re switching things around and looking for people who have DNA mutations that could cause debilitating diseases but somehow, against all odds, they don’t.
In short, the scientists are looking for people who stay healthy. And in a recent study conducted among 600,000 individuals, there were 13 people who stood out.
These 13 people should have developed either cystic fibrosis, Smith-Lemli-Opitz syndrome, Opitz syndrome, familial dysautonomia, epidermolysis, bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia, or atelosteogenesis; however, they didn’t.
Notably, all of these are debilitating diseases, and because of the severity of these diseases, it’s very unlikely that they would not manifest signs of being sick. But these individuals have, somehow, remained healthy.
The question now is—what is in their DNA that is keeping them healthy? And if we discover it, could it lead to new therapies?
“Finding these individuals is a starting point to searching for the other changes, eg in the genome, that might give us clues to develop therapies. Study the healthy, don’t just study the sick,” Stephen Friend, a Professor of Icahn School of Medicine said.
Unfortunately, due to consent rules signed after their DNA samples were taken, scientists are unable to reach out to the 13 individuals. This means they will be unable to study how their DNA is protecting them from developing debilitating diseases.
The work was published in Nature Biotechnology.
Notably, some experts are arguing that, because of the inability to ensure that there were no errors in testing or bad record keeping, the legitimacy of the study is suspect. Nevertheless, the team behind the work is hoping to conduct a new, similar experiment that will allow them to trace their subjects.