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Towards Precision Medicine with Human iPSCs for Cardiac Channelopathies

European Coordinator:
  • Peter SCHWARTZ, University of Pavia (Italy)
North American Coordinator:
  • Joseph WU, Stanford University School of Medicine, California (USA)
Members:
  • Russ ALTMAN, Stanford University School of Medicine, California (USA)
  • Michael P. SNYDER, Stanford University School of Medicine, California (USA)
  • Lior GEPSTEIN, Technion-Israel Institute of Technology, Haifa (Israel)
  • Jean-Sébastien HULOT, Centre de Recherche Cardiovasculaire de Paris (PARCC), Paris (France)
  • Bjorn KNOLLMANN, Vanderbilt University, Nashville (USA)
  • Shinya YAMANAKA, Kyoto University (Japan)
  • Yoshinori YOSHIDA, Kyoto University (Japan)

This Leducq network is focused on the Long QT Syndrome (LQTS), a frequently fatal, inherited disease that involves heart arrhythmias (irregular heart rhythms) and the potential for sudden cardiac death. LQTS, one of the channelopathies (channelopathies are diseases caused by disturbed function of the ion channels in the heart or the proteins that regulate them), affects 1 in 2,000 people worldwide.  Ideally, affected patients could be identified by genetic testing and referred for treatment to avoid a lethal arrhythmia. Unfortunately, genetic testing in this syndrome is often inconclusive; tests done on persons related to patients who have died suddenly will reveal genetic abnormalities, or variants, that can only be said to be of uncertain significance. In order to understand whether these variants pose a danger, this network proposes to test them in a novel way using Induced Pluripotent Stem Cells (iPSCs). iPSCs derived from patient’s skin or blood cells, can be genetically reprogrammed into to cardiomyocytes, or heart cells. The genetically engineered cardiomyocytes will be designed to test the lethal potential of the various genetic mutations thus far described. The investigators plan to develop a whole library of genetic variants for the LQTS.  If successful, this network could change the way in which patients with LQTS are diagnosed and managed.