Wednesday, April 13, 2016

Genetic Superheroes Walk Among Us, But Shhh! No One Can Tell ‘Em

A study was conducted entitled "Resilience Project" that revealed 13 people who have genetic mutations which should've ended in a deadly childhood but they survived and grew to be healthy adults. The study was published in Nature Biotechnology and they explained that in order to collect this data, they relied on genomic data that had already been collected for other studies. 400,000 genomes came from the company 23andMe; however, the scientists who conducted this study are unable to contact these people because they need consent to recontact them. For this reason, their DNA cannot be re-sequenced and studied further to find cures because they are unable to contact the people who have these genetic mutations. Many people decide not to be recontacted after consenting to allowing their DNA to be used to research because they do not what to know what other kind of complications they might have. Companies are hoping to fix this issue and have recontacting in mind before conducting research so that participants in studies can remain up-to-date with their DNA and this can therefore allow for their DNA to be re-sequenced for further research.

I think that it is unfortunate that these people cannot be contact about what the scientists found, because it is truly amazing that they were able to survive despite their serious and sometimes deadly genetic mutations. If they were actually able to contact these participants, they could potentially study their DNA further and be able to find the cures for these mutations in order to help those people who weren't so lucky with living with those diseases. Perhaps they should require recontacting if people decide to allow their DNA to be used to research, because then it's almost pointless if they're not able to conduct further research on the DNA and potentially save the lives of many. Also, if I were one of these people, I would be interested in knowing that I am a genetic "superhero" that survived such horrible mutations, but I might also not want to know about further complications I might experience later on.

1 comment:

  1. It is interesting to see that such vital DNA sequences are unable to be researched again because of the consent rule. Was making a copy of their DNA also not permitted? Because I believe the the researches could have easily replicated their sequences. Also were these all the same fatal disease, or a variety?