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: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies

Project Coordinator

Technical University Munich, Klinikum Rechts der Isar


Thomas Klopstock Klinikum der Universität München – Innenstadt München, Germany
Marni J. FALK The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine Philadelphia, USA
Agnes Roetig Institut Imagine Paris, France
Pierre RUSTIN Hôpital Robert Debré Paris, France
Tina WENZ Universität zu Köln Köln, Germany
Costanza LAMPERTI Foundation Neurological Institute C. Besta Milano, Italy
Johannes MAYR Paracelsus Medical University Salzburg, Austria

Mitochondrial disorders are a genetically heterogeneous group of individually rare, highly incapacitating human diseases for which no effective treatment is available. GENOMIT is a network of eight partners in Germany, Austria, Italy, France, and USA which act in close collaboration with the International Mitochondrial Patient (IMP) organization to improve the diagnosis and care of mitochondrial disease patients. GENOMIT will i) create the largest mitochondrial patient database worldwide, integrating four existing national registries from Europe and USA, including more than 4500 patients, ii) boost genome-wide diagnostics and optimize interpretation of genomic data by aggregating >1000 exome datasets, iii) extend functional studies on novel genes and pathways involved in the pathophysiology of mitochondriopathies, and iv) test new therapeutic options by protein replacement therapy and bypassing respiratory chain complex I deficiency. GENOMIT partners are established national hubs for the biochemical and genetic diagnosis and care of patients with mitochondriopathies. They represent the existing national patient registries and have access to the largest collection of mitochondriopathy-related NGS data in Europe. Each of them has also developed unique expertise that will be shared synergistically within the network. GENOMIT will thus create the critical mass to expand knowledge on the natural history, and genotype-phenotype correlation of mitochondrial disease, and gain insight into pathophysiologic mechanisms and feasibility of novel therapeutic approaches.

E-Rare 2012 - Created by Toussaint Biger