KCNH2 variant functional characterization identified in french patients

My internship will be carried out at Institut du Thorax in Nantes, under the supervision of Dr Barbara Ribiero. Research focuses on high-throughput characterization of the impact of genetic variations on cardiac ion channels. The aim of this internship will be to characterize genetic variants of the Herg channel using electrophysiological methods such as automated patch-clamp.

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The hERG channel, encoded by the KCNH2 gene, is essential for regulating the cardiac action potential by controlling potassium current. Its dysfunction is associated with long QT syndrome, a cardiac pathology characterized by abnormal prolongation of the QT interval on the electrocardiogram, which can lead to potentially serious arrhythmias, including torsades de pointes and ventricular fibrillation. Genetic mutations in the hERG channel can disrupt cardiac repolarization, increasing the risk of sudden death. This understanding of the hERG channel is aimed at improving the treatment of long QT syndrome, by facilitating the interpretation of genetic results findings in the context of molecular diagnosis and management of at-risk patients in a context of personalized medicine.