Objectif The aim of MITOCIRCLE is to optimise efficient and accurate diagnosis throughout the EU and thereby establish best practice for the clinical investigation and management of patients and families with mitochondrial disease. Mitochondrial disorders are often fatal multisystem disorders, associated with abnormalities of the terminal component of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Defects of the respiratory chain are the biochemical hallmarks of human mitochondrial disease. Because of its dual genetic control, defects in OXPHOS can be due to mutations in either the mitochondrial or nuclear DNA. Although OXPHOS disorders have comon characteristics as a group there is considerable clinical variability among patients, even in those having the same genetic defect. As a result each centre has acces to only relatively small numbers of patients in each disease category, making it difficult for individual centres to develop consensus guidelines for the investigation of mitochondrial diseases. There are currently no clinical or laboratory guidelines for the investigation of suspected mitochondrial disease, resulting in considerable variability in the standard and accuracy of investigation throughout the EU. Developing consensus guidelines with a broad relevance for all suspected patients is a matter of some urgency to ensure rapid and accurate diagnosis of mitochondrial disorders in each member state. This will only be possible through the concerted action of the principal European centres with expertise in both clinical and laboratory aspects. This forms the focus of this proposal - to take advances made in the laboratory back to the clinic and thereby improve the management of patient and families with mitochondrial disease. This will pave the way for futute treatment trials. Champ scientifique natural sciencesbiological sciencesgeneticsDNAnatural sciencesbiological sciencesgeneticsmutationnatural sciencesbiological sciencesgeneticsgenomes Mots‑clés Mitochondrial diseases Molecular Molecular diagnostics diagnosticsMitochondrial diseases Programme(s) FP6-LIFESCIHEALTH - Life sciences, genomics and biotechnology for health: Thematic Priority 1 under the Focusing and Integrating Community Research programme 2002-2006. Thème(s) LSH-2003-1.2.2-3 - Molecular diagnostics in mitochondrial diseases Appel à propositions FP6-2003-LIFESCIHEALTH-I Voir d’autres projets de cet appel Régime de financement STREP - Specific Targeted Research Project Coordinateur MAASTRICHT UNIVERSITY Contribution de l’UE Aucune donnée Adresse Minderbroedersberg 4-6 MAASTRICHT Pays-Bas Voir sur la carte Liens Site web Opens in new window Coût total Aucune donnée Participants (5) Trier par ordre alphabétique Trier par contribution de l’UE Tout développer Tout réduire FONDAZIONE IRCCS ISTITUTO NEUROLOGICO "CARLO BESTA" Italie Contribution de l’UE Aucune donnée Adresse Via Giovanni Celoria 11 MILANO Voir sur la carte Liens Site web Opens in new window Coût total Aucune donnée THE UNIVERSITY OF NEWCASTLE UPON TYNE Royaume-Uni Contribution de l’UE Aucune donnée Adresse 6 Kensington Terrace NEWCASTLE UPON TYNE Voir sur la carte Liens Site web Opens in new window Coût total Aucune donnée UNIVERSITY MEDICAL CENTRE NIJMEGEN Pays-Bas Contribution de l’UE Aucune donnée Adresse Geert Grooteplein 10 NIJMEGEN Voir sur la carte Liens Site web Opens in new window Coût total Aucune donnée PAMGENE INTERNATIONAL BV Pays-Bas Contribution de l’UE Aucune donnée Adresse Nieuwstraat 30 'S HERTOGENBOSCH Voir sur la carte Liens Site web Opens in new window Coût total Aucune donnée INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE France Contribution de l’UE Aucune donnée Adresse 101 rue de Tolbiac PARIS Voir sur la carte Liens Site web Opens in new window Coût total Aucune donnée
