Stone Person Disease Gene Found

A paper published in Nature Genetics (subscription required) reports that scientists at the University of Pennsylvania have identified a single gene that's responsible for a devastating disorder called fibrodysplasia ossificans progressive, or FOP, which apparently turns muscle into bone. Only 1 in 2 million people, or 2,500 people worldwide, have the disease, reports the Times Online.

Gene discoveries are always exciting in theory, but they don't immediately lead to a therapy. They basically give scientists a place to start looking for a treatment. The Times story says the discovery could have implications beyond a treatment for FOP:

By providing insights into the genetic signals that govern bone growth, the research should also improve understanding and treatment of a wide range of more common skeletal conditions. These include osteoporosis, spinal injuries and sports injuries such as the bone spurs that have hampered the cricketers Andrew Flintoff and Glenn McGrath.

In the longer term, it could also allow scientists to make bone in the laboratory, for treating fractures that fail to heal and skeletal malformations.

"The discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that effects the formation of the skeleton," said Frederick Kaplan, of the University of Pennsylvania, who led the research.

Robert Kingholm: one of the worst cases of FOP

Image courtesy the Times Online