Fibrodysplasia ossificans progressiva
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For UNC Scientists, Open Source is the Way Forward
Fibrodysplasia ossificans progressiva—more commonly called stone man's syndrome—is the result of a rare mutation, an anomaly in the way certain enzymes called kinases spur protein synthesis. Someone with stone man's syndrome has hyperactive kinases that catalyze more bone production than they should. The body's natural repair mechanisms malfunction, and they replace soft tissue with deposits of solid bone. Joints freeze. The body becomes a prison. But scientists know they can manipulate those kinases to combat the disease. And chemical biologists at the University of North Carolina are leading an open source effort to unlock the secrets of kinase activity—secrets they say could pioneer a new generation of drug discovery...
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