Fibrodysplasia Ossificans Progressiva

Researchers discover new bone deformity gene

(Medical Xpress) -- The Human Genetics team at The University of Queensland Diamantina Institute have successfully used a new gene-mapping approach for patients affected by severe skeletal abnormalities.

May 04, 2011
popularity0 comments 0

Fibrodysplasia ossificans progressiva (FOP), sometimes referred to as Stone Man Syndrome, is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified when damaged. In many cases, injuries can cause joints to become permanently frozen in place. Surgical removal of the extra bone growths has been shown to cause the body to "repair" the affected area with more bone.

This text uses material from Wikipedia licensed under CC BY-SA

Latest Spotlight News

Variation in 'junk' DNA leads to trouble

All humans are 99.9 percent identical, genetically speaking. But that tiny 0.1 percent variation has big consequences, influencing the color of your eyes, the span of your hips, your risk of getting sick and in some ways ...

Amputees' brains remember missing hands even years later

Our brains have a detailed picture of our hands and fingers, and that persists even decades after an amputation, Oxford University researchers have found. The finding could have implications for the control of next generation ...

Molecularly shutting down cancer cachexia

Healthy fat tissue is essential for extended survival in the event of tumor-induced wasting syndrome (cachexia). In Nature Medicine, researchers at Helmholtz Zentrum München show that selective manipulation of an enzyme ...