Gene Discovery

In April 2006, after 15 years of painstaking research, the FOP research team at the University of Pennsylvania School of Medicine, and their international collaborators, pinpointed a single gene mutation -- one letter out of six billion in the human genome -- that causes the runaway bone growth of FOP. This groundbreaking discovery is being used to unlock the mysteries of FOP. Learn more about the University of Pennsylvania School of Medicine and meet the researcher who discovered the gene. 

FOP is caused by a mutation of a gene for a receptor called ACVR1 in the bone morphogenetic protein-signaling pathway.

Following the discovery of the gene, research efforts towards a treatment and a cure accelerated. The discovery of the FOP gene provides a highly specific target for future drug development that holds promise for altering not just the symptoms of the disease but the disease itself. It also allowed for the creation of animal models that can express the mutant gene, further enabling research and drug development.

Read more about the news from 2006:

Discovery of FOP Gene Offers New Hope for IFOPA

Penn Researchers Discover Gene That Creates Second Skeleton

 

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