Voltage-Gated Channel Channelopathies: Small defects with fatal consequences

Channelopathies such as cardiac arrhythmias and pain syndromes are caused by either genetic or acquired dysfunction of ion channels. Our group investigates the molecular and cellular mechanisms involving members of the family of voltage-gated sodium channels (Nav1.x) leading to cardiac, neurological, and muscular phenotypes. Two main approaches are used: on the one hand, we study and characterize mutant channels found in patients and families with pathological phenotypes, and on the other hand, we look for new regulatory mechanisms that may be playing roles in such channelopathies. In this seminar, I will focus on the studies performed in our group at the University of Bern where we investigate the possible pathogenicity of genetic variants found in patients with cardiac disorders.

Hugues Abriel studied life sciences at the Swiss Federal Institute of Technology in Zurich (ETHZ, 1989) and medicine at the University of Lausanne in Switzerland (MD, 1994). He received a PhD degree in Physiology from the University of Lausanne (1995). He has spent two years as a research scientist at Columbia University in New York, USA. Hugues Abriel has been a Group Leader (2002-2009) at the Department of Pharmacology and Toxicology at the University of Lausanne thanks to a professorship from the Swiss National Science Foundation (SNSF-Professor). From 2009 until 2016, he was the Director of the Department of Clinical Research of the University of Bern at the Inselspital. Since October 2016, he is the Managing Director of the Institute of Biochemistry and Molecular Medicine of the University of Bern, as well as Professor of Molecular Medicine. Since 2012, he is a member of the Research Council of the SNSF, and he is since 2016 Vice-President of the Division of Biology and Medicine. He is the Director since 2015 of the SNSF-funded research network NCCR TransCure. His research work focuses on the roles of ion channels in human diseases (channelopathies). Currently, he is mainly exploring the genetic, molecular and cellular bases of cardiac arrhythmias.