Skeleton Key

Gene discovery could be a skeleton key

By Thomas Maugh in Los Angeles
April 25, 2006

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Breakthrough … a scan of an affected skeleton.

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Photo: AP

RESEARCHERS have discovered the gene that causes one of the rarest congenital disorders, a disease called FOP that turns muscle and tendons into bone, forming a second skeleton that eventually renders the patient immobile like a statue.

The disease strikes fewer than one in every 2 million people and is so rare most doctors misdiagnose it, prescribing treatments that generally make the condition worse.

Only about 600 patients are known, and the majority of them become bedridden by their 30s. There is no treatment; removing the excess bone only makes it grow back faster.

The discovery of the FOP gene could eventually lead to the first treatments for the disease, says researcher Dr Frederick Kaplan, the University of Pennsylvania School of Medicine.