Precision Rhythmology – Identification of Disease-modifiers for Personalized Risk Stratification and Therapy in Genetic Arrhythmia Disorders
Prof. Dr. med. Katja E. Odening, Professor for Translational Cardiology, Department of Physiology, University of Bern and Department of Cardiology, Inselspital University Hospital Bern.
Genetic arrhythmia disorders are a major cause for sudden cardiac death (SCD) in young individuals. To prevent SCD, it is important to identify and treat patients early. Pronounced inter-individual differences in arrhythmia risk within families exist, indicating the importance of disease-modifiers.
We will establish Precision Rhythmology, targeting not only disease-causing mutations but also disease-modifiers to improve individual risk stratification. Families with different phenotypes will be recruited; their electro-mechanical phenotypes will be characterized, and electrical and MR-image features most relevant for disease severity determined. Genetic disease-modifiers will be identified using whole exome sequencing, and their functional impact assessed in cell systems.