MITOMICS: an integrative multi-omics approach to decrease diagnosis deadlock of mitochondrial diseases and dissect crosstalk between mtDNA and nuclear genome. 2022-2027, ANR, co-PI Sylvie Bannwarth.

The MITOMICS project aims to understand the molecular mechanisms responsible for the clinical heterogeneity of MDs. The integration of multi-Omics data (transcriptomics / proteomics / metabolomics) combined with clinical and genomic data (WES, WGS) in Mitomatcher, a database implemented by the whole French network of reference centers on MDs, should help to better understand physiopathological mechanisms and specific pathways responsible for these disorders.

The cross-analysis of this data will require the development of in silico tools and new algorithms using innovative artificial intelligence approaches to (i) identify the co-occurrences of mtDNA and / or nuclear DNA variants responsible for mitochondrial diseases in order to identify new genotype / phenotype correlations, (ii) characterize the communication mechanisms between 2 genomes and (iii) identify OMICS signatures specific to mitochondrial dysfunction.