ERA-Net E-Rare

Myotonic Dystrophies (Steinert diseases) are the most common muscular dystrophy in adults. Patients suffer from multiple symptoms among which cardiac conduction defects and arrhythmias. Importantly, the mechanisms leading to such fatal cardiac dysfunctions are still unknown. We propose to create new physiological models, including, fly models, mouse models and engineered 3D heart tissue derived from human iPS cells, to study the cardiac alterations of Myotonic Dystrophies. Next, we will take advantage of these models to identify pharmacological compounds able to restore normal cardiac function. A critical issue as there is no available therapy for Myotonic Dystrophic patients.