GENOMIT

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.