Insights from a rare genetic disorder of extra-skeletal bone formation, fibrodysplasia ossificans progressiva (FOP).
Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disorder of extensive and debilitating extra-skeletal bone formation. While the challenges of investigating a rare condition are many, the potential benefits are also great - not only for the specific disease under investigation, but also for the unique perspective on how cells normally function and the mechanisms that underlie more common disorders. This review will illustrate some of the many insights that we have gained by studying FOP.
Shore
Eileen M
EM
Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA. shore@mail.med.upenn.edu
Kaplan
Frederick S
FS
D001842:Bone and Bones / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008954:Models, Biological; D008957:Models, Genetic; D009154:Mutation; D009221:Myositis Ossificans / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009999:Ossification, Heterotopic / Q000235:genetics; D010012:Osteogenesis / Q000235:genetics*; D010641:Phenotype; D035583:Rare Diseases; D015398:Signal Transduction