Project: Mitochondrial disorders

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 which no effective treatment is available. GENOMIT is a network of six partners in Germany, Italy, France, Israel, Austria and Belgium that will contribute to improve the diagnosis and care of patients with mitochondrial disorders in Europe. This goal will be accomplished by implementing the following four actions. First, to create the largest European repository of databases and biomaterials from patients with mitochondrial disease, by harmonizing and connecting suitable local resources available by each partner. 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 mitochondriopathies. Fourth, to test new therapeutic options by improving the range of and the access to animal disease models. The GENOMIT partners are national hubs for the diagnosis and care of patients with mitochondriopathies, but 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 in Europe, and to gain insight on in vivo models, thus providing the basis for better treatment.

Acronym GENOMIT*
Network E-Rare-2
Call 3rd Joint Call for Research Projects on Rare Diseases

Project partner

Number Name Role Country
1 Technical University of Munich Coordinator Germany
2 Fondazione Istituto Neurologico Carlo Besta - IRCCS Partner Italy
3 Institut National de la Santé et de la Recherche Médicale (INSERM) Partner France
4 Hadassah medical center- Hebrew university Jerusalem Partner Israel
5 Paracelsus Medical University, Salzburger Landeskliniken (SALK) Partner Austria
6 GIGA-R; University of Liège, Belgium Partner Belgium