Study linking gene mutation with multiple sclerosis faces brutal criticism

Scientists are forcefully challenging a recent study that claimed to identify a rare genetic mutation that sharply boosted the risk of multiple sclerosis. The critics cite calculation errors and say they have been unable to replicate the findings — and question why the original paper was ever published in a top journal.

The withering assault has dashed hopes that the study might quickly lead to new drugs for MS and also raised questions about how such critiques are handled: like more and more journals, the one that published the paper does not run letters to the editor, making it harder for scientists to see that the claim has been hotly disputed.

The study — which reported that the mutation raised the risk of MS by a whopping 70 percent —…led to hopes that correcting the mutation or its downstream consequences might treat or even cure MS, which affects some 2.3 million people worldwide.

[However, t]he mutation “contributes extremely weakly, if at all, to MS risk,” [stated Eric Minikel and Daniel MacArthur.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. Read full, original post: Bold claim of multiple sclerosis gene discovery comes under withering attack

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