And the cells drove him crazy: cheap genetic sequencing has just discovered a new autoinflammatory disease

This story begins with three different people. Three people who lived in different places, had divergent family histories, and did not work in similar professions. Three people who shared only two things: isolated episodes of high fever and painful swollen lymph nodes.

Since childhood, inflammation and hospital waiting rooms had been part of her daily life. And there they went, from clinic to clinic, looking for answers to symptoms that no one had ever described in any medical book.All they knew was that the cells were suddenly "going crazy." Luckily for them, the search is over.

It is not every day that a new disease is found

Najoua Lalaoui and John Silke, principal investigators

Now, after sequencing the entire exome of the patients, a team of scientists from Australia and the United States has found an explanation for those symptoms. The exome is one of the most important functional parts of the genome because it is the one that regulates all the production of proteins in the body.

There, in the bowels of those exons, they found the CRIA syndrome (initials of cleavage-resistant RIPK1-induced autoinflammatory), a new autoinflammatory disease related to the RIPK1 enzyme, a biomolecule closely related to cell death and survival.

Essentially, what the research team has found is that in these people the mechanisms that regulate inflammatory signals and cell death are unbalanced by a mutation in the RIPK1 gene (the one that encodes the enzyme). The result is uncontrolled cell death and the consequent inflammation.

It is not every day that a new disease is found, but it is even rarer to find the molecular mechanism that causes it. Today, in the work published by Nature, both things happen and that makes the opportunity to get directly to the root of the problem and develop suitable drugs much more viable.

This is a very interesting example of how the democratization of sequencing techniques is allowing us to refocus how we approach the identification and treatment of new diseases. Despite all the criticisms that can be made of "precision medicine", this type of thing helps us to reconcile with it.

Image | Pawel Czerwinski

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