GENOMIT: A Multi-Omics Approach for Mitochondrial defects

Mitochondria are parts of the cells required for energy supply of the human body. In a cascade of reactions, they use the nutrients from food and burn them with the oxygen that we breathe. In total, these reactions involve more than 1000 genes, which is approximately 5% of our genome. Defects in these genes can lead to a disturbed energy metabolism resulting in a broad range of diseases called mitochondrial disorders (MDs). MDs are individually rare and no causal treatment is available for the majority of them. The GENOMIT consortium comprises a combination of clinical, genetic, and biochemical research centers for MDs with dedicated statistics/bioinformatics expertise and a history of ongoing collaborations, commonly established resources, and innovative methods to combat MDs. The consortium will leverage established national networks to reach the compulsory number of patients, genomic data, and biosamples. GENOMIT combines clinical expertise with expertise in detailed functional studies of mitochondrial dysfunction to boost molecular diagnostics, establish novel biomarkers, and advance understanding of mitochondrial pathomechanisms. This will serve as a catalyst for translating basic research results into clinical practice and trials. The GENOMIT project will focus on the following aims: i) develop novel omics-driven diagnostic strategies empowered by technologies and data sciences, ii) establish MD-specific metabolic profiles and epi-signatures and correlate them with MD progression, iii) extend functional studies on novel genetic variants, genes, and pathways involved in the pathophysiology of MDs.