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The deconvolution of corrupted biological pathways in disease and the translation of patient-specific molecular mechanisms into tailored management algorithms have begun to extend the reach of individualized medicine from principles to practice. A case in point is the emergent deciphering of the pathobiology underlying life-threatening human diseases caused by dysfunction in adenosine triphosphate (ATP)–sensitive potassium (KATP) channels. In a recent paper in Science, researchers used humanized mouse models to recapitulate a pathogenic KATP channel mutation and pinpoint tissue-restricted lesions that stratify the consequences of genetic variation on disease traits. Advances in the molecular medicine of KATP channelopathies offer new perspectives for personalized diagnosis and therapy.
Citation: A. Terzic, C. Perez-Terzic, Channelopathies: Decoding disease pathogenesis. Sci. Transl. Med. 2, 42ps37 (2010).
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