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Genomics and pathophysiology of cardiovascular diseases

Principal investigator :
Philippe Charron, MD-Ph.D.

Principal investigator groups

Pascale Guicheney and Nathalie Neyroud focus their research on genetics of hereditary cardiac arrhythmias (Brugada syndrome, long QT syndrome, short QT syndrome, and ventricular fibrillation) and functional consequences of new mutations in ion-channel subunits and associated proteins with the aim of increasing our understanding of regulatory processes of ion channels involved in human cardiac pathophysiology. They use next-generation DNA sequencing (NGS), molecular, immunohistochemical and electrophysiological techniques, associated to viral gene transfer and animal models to identify new genetic variants and to determine how variants linked to arrhythmia can alter the expression and function of cardiac voltage-gated channels.

Another research axis, led by Sophie Garnier in close collaboration with Pr. Vincent Degos of Pitié-Salpêtrière neuro-intensive care unit, aims at unravelling the predictive factors of cerebral vasospasm after aneurysmal subarachnoid hemorrhage (aSAH). Vasospam, thickening and prolonged contraction of intracranial arteries, is a severe complication of aSAH occurring 4 to 12 days after the bleeding for 15 to 20% of aSAH cases and leading to delayed cerebral ischemia (DCI) responsible for severe neurological deficiencies. To date, there is no predictive factor of vasospasm onset thus every aSAH patient is submitted to a heavy treatment not free of side effects. The discovery of cerebral vasospam predictive factors would thus improve patients nursing at their arrival in neuro-intensive care units. The used approaches to unravel these predictive factors combine transcriptomic, miRNOmic and genetic approaches.

This team is linked to the doctoral school 394 “Physiologie, Physiopathologie et Thérapeutique”.


This team focuses its research program on 4 research axes:

  1. To translate the new knowledge into clinical practice, especially through genetic testing and high throughput resequencing, to develop personalized medicine.
  2. To identify key-players (rare and frequent genetic variants, signaling pathways) in cardiomyopathies and channelopathies through genomics and omics approaches.
  3. To understand function, interactions and pathophysiology of key-players in these diseases through human cardiomyocytes (derived from iPS patients) and murine models.
  4. To progress towards new therapeutics (pharmacologic, interventional, gene-based) in monogenic or complex forms of heart failure and arrhythmias.