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Friday, September 9, 2016

Multiple sclerosis gene discovery comes under withering attack


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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.

As soon as the MS claim was published in June, outside scientists expressed doubts to STAT that there was really a link between the newly discovered mutation and the disease. Since then, other experts have dug into the study in greater detail, tried to replicate its findings using a database of thousands of MS patients, and checked the original paper’s statistics. In each case they concluded there is no link between the rare mutation and MS.

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