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.

Mitochondrial Disorders – Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models

Project Coordinator

Institute of Human Genetics Technical University of Munich


Agnes Rötig INSERM U781 Insitut National de la Santé et de la Recherche Médicale Paris, France
Marc Muller GIGA-R, University of Liège Unit for Molecular Biology and Genetic Engineering Liège, Belgium
Massimo Zeviani Molecular Genetics Fondazione IRCCS, Instituto Neurologico Carlo Besta Milano, Italy
Simon Edvardson Department of Pediatrics Neuropediatrics Unit Hadassah Medical Center - Hebrew University Jerusalem Jerusalem, Israel
Wolfgang Sperl Department of Pediatrics Paracelsus Medical University Salzburger Landeskliniken (SALK) Salzburg, Austria

Faulty energy supply due to defective oxidative phosphorylation, OXPHOS, is the biochemical signature of mitochondrial disorders, a genetically heterogenous group of rare, severe and highly invalidating human conditions for most of which no effective treatment is available. GENOMIT will create a network of specialized centres in Germany, Italy, France, Israel, Austria and Belgium with the aim to improve diagnosis, molecular understanding and treatment of patients with mitochondrial disorders in Europe. This goal will be accomplished by implementing the following four action lines which will be addressed in four workpackages:

First, to create a European catalogue of databases and biomaterials from patients with mitochondrial disease and to harmonize and connect local resources that already exist.

Second, to develop new diagnostic protocols based on next generation sequencing techniques that will be applied to shared sample collections.

Third, to extend functional studies of genes and pathways involved in the pathophysiology of mitochondrial disorders

Fourth, to support testing of new therapeutic options by improving the range of and the access to animal disease models.

GENOMIT partners are active as national hubs for the diagnosis and care of patients with mitochondriopathies. In addition, each of them has developed unique expertise that will be shared synergistically within the network. GENOMIT will thus achieve the critical mass of a European network that is necessary to expand our knowledge on the natural history, the genotype-phenotype correlation, and the pathomechanims of mitochondrial disease thus providing the basis for a better treatment of patients.


E-Rare 2012 - Created by Toussaint Biger