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.