GENOMIT is a network of 16 partners of European and non-European scientific institutions working closely with mitochondrial patient organizations to improve the diagnosis and care of patients with mitochondrial diseases. It is funded by the European Joint Programmes on Rare Diseases (EJP RD)

GENOMIT aim to advance understanding of the natural course of mitochondrial diseases, provide a solid foundation for genetic counseling, and serve as catalysts for translating basic research results into clinical practice.

The network has been established to overcome the fragmentation of MD research, to study disease natural history, and to create a comprehensive biorepository to find and establish therapeutic options.

The partners of the GENOMIT research consortium established national centers for biochemical and genetic diagnosis and care of patients with mitochondriopathies. They represent existing national patient registries and have access to the largest collection of NGS data on mitochondriopathies in Europe. Each of them has also developed unique expertise that will be synergized within the network.

GENOMIT is now in the fifth funding period and provide the critical mass to advance knowledge of the natural history and genotype-phenotype correlation of mitochondrial diseases and to gain insights into pathophysiological mechanisms and the feasibility of novel therapeutic approaches.