She was really cheated out of what most would consider a normal childhood, John says. Too much of a good thing In April 2006, Dr. Frederick Kaplan and his fellow researchers at the University of Pennsylvania School of Medicine announced they had discovered the FOP gene. One single genetic letter out of 6 billion, Kaplan says 97% of FOP patients have it. http://grd.pw/medicalinterviewcourse34362By identifying the gene, scientists were able to find the protein the gene encoded an enzyme that basically causes a reaction that forms bone. Usually the enzyme only works when its turned on, to fix broken bones; but in FOP patients, that on/off switch is on all the time. The bone that forms is perfectly normal bone, Kaplan says. Its just too much of a good thing. His team and others are now looking to develop drugs that block the on switch. Research in rare diseases is often limited.
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