Project: Personalized Mitochondrial Medicine (PerMiM): Optimizing diagnostics and treatment for patients with mitochondrial diseases
| Acronym | PerMiM (Reference Number: ERAPERMED2019-310) |
| Duration | 01/04/2020 - 31/03/2023 |
| Project Topic | Mitochondrial disorders are 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. Biochemically, patient derived tissues show impaired mitochondrial energy metabolism and base functional validation of genetic findings as well as development of therapeutic compounds. NGS techniques have revolutionized the diagnostics for mitochondrial disease; however, still 50% of affected individuals remain without a diagnosis after WES. Hence, improvement of genetic diagnostics by integrating multi omics techniques (WGS, RNA-seq, proteomics) is highly sought after as it bases personalized management of disease. The Personalized Mitochondrial Medicine (PerMiM) consortium will leverage on the E-Rare 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. |
| Network | ERA PerMed |
| Call | 2nd Joint Transnational Call for Proposals (2019) |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | Klinikum rechts der Isar der Technischen Universität München (TUM-MED) | Coordinator | Germany |
| 2 | Imagine Institute and Necker Hospital (INSERM) | Partner | France |
| 3 | Gemeinnützige Salzburger Landeskliniken Betriebsgesellschaft mbH (SALK) | Partner | Austria |
| 4 | Technical University of Munich (TUM) | Partner | Germany |
| 5 | Fondazione IRCCS Istituto Neurologico C. Besta | Partner | Italy |
| 6 | Capital Medical University | Partner | China |