Personalized Mitochondrial Medicine (PerMiM)

Mitochondrial disorders affect the cellular energy metabolism of the human body. They cause a clinically and genetically highly diverse group of individually rare, but collectively frequent, severely disabling human diseases for which no causal treatment exists. However, a growing subgroup is amenable to treatment with e.g. cofactors (vitamin B1, B2, coenzyme Q). Biochemically, patient derived tissues show impaired mitochondrial energy metabolism and base functional validation of genetic findings as well as development of therapeutic compounds. Next Generation Sequencing (NGS) techniques have revolutionized the diagnostics for mitochondrial disease. However, still half of the affected individuals remain without a diagnosis after Whole Exome Sequencing (WES), investigating all human genes. Hence, improvement of genetic diagnostics by integrating multi omics techniques (Whole Genome Sequencing [WGS], RNA sequencing of all expressed genes [RNA-seq], investigation of all expressed proteins [Proteomics]) is highly sought after as it bases personalized management of disease. The Personalized Mitochondrial Medicine (PerMiM) consortium will leverage on the existing international multi-center rare-disease project GENOMIT integrating the national German/Austrian/Italian networks and National centres in France and China. The PerMiM consortium collectively identifies about 700 novel cases annually. This global collaborative leads to the largest collection of multi-omics data pertaining mitochondrial disease. We incorporate groups with unique expertise for biochemical and genetic diagnostics, the clinical management of mitochondrial disease and computational scientists who have developed multi-omics databases and statistical models for diagnostics. PerMiM translates biochemical and genetic research to patient care by establishing an integrated multi-omics pipeline to increase the diagnostic yield and by implementing a high-throughput pre- clinical screening to validate biomarkers and guide management. It will further examine clinical diagnostics and management within the consortium to establish evidence based best practice, diagnostics and care for mitochondrial disease patients. Only the joined forces of the PerMiM consortium allow reaching the critical mass of patients needed to achieve these aims.

No additional funding sources recorded.