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Superheroes of disease resistance found

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The latest genetic study on inherited diseases found people who have genetic mutations for severe diseases but did not develop the disease. The aim was to identify healthy individuals resilient to severe forms of genetic disorders that normally develop from childhood.

A comprehensive screen of 589,306 genomes led to the identification of 13 adults who had mutations for 8 severe diseases, with no reported clinical symptoms of the disease.

Rather than focusing only on individuals that suffer from the disease, the research team looked at a small group that remained healthy despite the fact that they have mutations and according to recent scientific knowledge, they should be ill.

Those people were born with genetic mutations and they were expected to develop serious conditions such as cystic fibrosis, but something, probably in their genes caused them to be resistant to this disease.

We believe that those 13 individuals could hold an answer to the diagnosis and treatment of a whole spectrum of illnesses. Usually we spend most of our resources researching disease. The focus though could also be on people that are healthy, despite having a disease-causing mutation. Few genetic studies until now have focused on healthy people and the possibility that they might be carrying a disease mutation that in the vast majority of people would cause the disease.

This is really exciting for the scientific community, as it puts human genetics in a completely new perspective!

 

 

Read more: http://www.nature.com/nbt/journal/vaop/ncurrent/full/nbt.3514.html

 

Image credit: http://theconversation.com/the-resilience-project-finding-those-rare-people-with-genetic-disease-mutations-who-are-healthy-57800

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