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.

The Netherlands
Functional characterization of nemaline myopathy in a murine model with nebulin mutation: moving from basic understanding towards therapeutic interventions

Project Coordinator

CNRS Center for Magnetic Resonance in Biology and Medicine (CRMBM) Médicine de Marseille


Coen Ottenheijm VU University Medical Center Laboratory for Physiology Institute for Cardiovascular Research Amsterdam, The Netherlands
Siegfried Labeit Medical Faculty Mannheim University of Heidelberg Integrative Pathology Mannheim, Germany

The aims of the present proposal are i) to determine the mechanisms underlying muscle weakness and fatigability in the unique murine model with nebulin mutation and ii) to characterize the effects of therapeutic strategies. For the first time in nemaline myopathy (NM), two therapeutic approaches including transgenic expression of nebulette and adenoviral expression of Z-disk nebulin will be evaluated. To achieve these goals, the work will be carried out as a collaborative project between three research groups, each with a long-standing and unique experience in his field. The corresponding network will combine complementary expertises ranging from non invasive magnetic resonance imaging and spectroscopy coupled to measurements of muscle force in living animals (group 1); invasive methods to dissect out the disease mechanisms at the whole myofibril level (group2), and/or cellular up to molecular levels (group 3). Our research project is clearly positioned at the level of a translational work from basic science to direct clinical application. It should go far beyond what is currently known and should have a significant impact on health and life quality of patients suffering from NM.

E-Rare 2012 - Created by Toussaint Biger