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Finding the abnormal gene for a genetic disorder is only the first step in designing effective therapies. In two studies of the effects of dietary intervention for pseudoxanthoma elasticum (PXE), researchers learned lessons that can be generalized to many other disorders. It is a story with Sherlockian twists and turns, and the final answers remain to be elucidated. An important general lesson is that the abnormal gene may not have to be altered to treat a genetic disease; altering the effects of that gene may be sufficient.
Two perspective pieces by Hovnanian and Uitto and colleagues examine the mechanisms of PXE and the import of recent murine findings. PXE is a heritable disorder characterized by ectopic calcification of the connective ti…