Wednesday, January 4, 2012

Three new eczema mutations discovered. Is this useful?

A large-scale genetic study recently identified three new locations in the human genome at which mutations are linked to eczema. Two of the locations are near genes thought to be important in dividing and developing skin cells; the third is near a cluster of genes involved in chemical signaling.

The study was published in Nature Genetics, a high-ranking journal. It is actually a meta-study, which re-analyzes data from 30 other studies, totaling more than 11,000 people affected with eczema and more than 40,000 unaffected controls. I don't know how meta-studies account for all the differences in methods and objectives, but I am impressed with the numbers. Generally when it comes to genetics bigger is better.

The question for a patient is: how is this information going to lead to a therapeutic (e.g. new drug)? At this point the researchers don't even know what the genes in the mutated regions do. (None of the mutations were actually IN genes; they were in regions BETWEEN genes.) To get to a therapeutic, you'd have to identify how the mutations affect proteins, what the proteins do, and find drug targets on those proteins, screen for drugs that work, and proceed through the whole billion-dollar death march to FDA approval.

Basically, we're not going to see something in our lifetime from this. Our kids might though.

The authors do at one point say "These the claim that atopic dermatitis encompasses distinct disease entities rather than being one illness, as is reflected by the current, relatively broad and inclusive concept of this condition." It is possible that within a decade or so we could see direct-to-consumer genetic tests that could tell you what subtype of eczema you suffer from, and you or your doctor could use this information to pick a treatment that might be more effective.

The Eeyore within me says that I'd most likely find that my type was the least treatable. Would I want to know this? Curiously, yes. I found out a few years ago that I carry one copy of the most common mutation for cystic fibrosis. Not good news, but it gave me a small sense of power to have the information.

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