GENOMIT is an E-Rare funded network of eight partners in Germany, Austria, Italy, France, and USA which act in close collaboration with Mitochondrial Patient organizations to improve the diagnosis and care of mitochondrial disease patients.
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.