Objective
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.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences genetics DNA
- natural sciences biological sciences genetics mutation
- natural sciences biological sciences genetics genomes
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Keywords
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP6-2003-LIFESCIHEALTH-I
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Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
MAASTRICHT
Netherlands
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.