The search is on for finding real-life “superheroes” by the medical community, where researchers are banking on the promise of finding people with ‘superhero DNA’ that rids their bodies of genetic diseases.
A study recently published in Nature Biotechnology, indicated that they were able to identify some 13 individuals from almost 600,000 people who should have developed diseases like cystic fibrosis but have not.
Although the idea of searching for these 13 ‘fascinating’ individuals are very promising, the fact that the concept alone of finding out the reason behind why they have not developed any diseases when their DNA samples should have told otherwise.
The team of researchers spearheaded by the Icahn School of Medicine at Mount Sinai, New York pointed out that errors that occur in the DNA are the root cause of diseases and a significant number of studies have been conducted over the years to understand genetic mutations that cause the disease from people who are affected.
The research team, however, tried a different approach by searching for those who may possess these ‘damaged’ genetic mutations but have remained healthy.
Each one of these 13 ‘superheroes’ were identified to have genetic mutations for cystic fibrosis, atelosteogenesis, acampomelic campomelic dysplasia, autoimmune polyendocrinopathy syndrome, Pfeiffer Syndrome, epidermolysis bullosa simplex, familial dysautonomia and Smith-Lemli-Opitz syndrome.
The research postulated that these diseases were supposed to be ‘severe’ but surprisingly, each of these 13 people could have manifested these diseases in their medical records.
Prof Stephen Friend of the Icahn School of Medicine said that finding these remarkable individuals could greatly support studies in finding effective therapies or treatments to these debilitating diseases.
“This time we study the healthy, don’t just study the sick,” Prof. Friend added.
One roadblock, however, is that there might be difficulty getting to these people due to the consent clauses binding confidentiality of the subjects when the DNA samples were taken.
A lot of other factors have also affected the search for these individuals like possible errors in testing, lack of proper validation processes and record-keeping flaws, among others.
“The lack of data,” according to Dr. Ada Hamos from John Hopkins University, “fails to confirm the source or validity of the variants or the lack of ability to contact these individuals.”
The research team, however, aims to conduct a new set of studies to ensure that patients are traced and would give them more avenues to validate their findings and finalize their results for publication.
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