Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Exploring the mechanisms of heart dysfunctions in myotonic dystrophies

Project Coordinator

Department of Translational Medicine IGBMC


Arne Hansen Department of Experimental Pharmacology and Toxicology University Medical Center Hamburg-Eppendorf Hamburg Hamburg, Germany
Arnaud Klein Department of Muscle Therapy Institute of Myology Paris Paris, France
Beatriz Llamusi Department of Genetic Fundacion Investigacion Clinico de Valencia Valencia Valencia, Spain

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.

E-Rare 2012 - Created by Toussaint Biger