Objective
The proposed project for Dr Aurélie Vandebrouck builds upon discoveries in the Institute for Neuromuscular Research (INMR) and Institut de Myologie (IM) and is designed to take advantage of the existing collaboration between the two centres, the unique resources of DNA and muscle samples collected over the past decade, and the expertise available in the two centres in gene discovery, production of mutant proteins, tissue culture and animal models.
Researchers in both Institutions, and others, have identified disease genes for inherited myopathies. Nevertheless, many disease genes remain to be identified, and the pathobiology of the identified mutations remains largely obscure.
In this project, Dr Vandebrouck will contribute to the gene discovery work and investigate further the molecular mechanisms resulting in muscle weakness observed in inherited myopathies. Inherited myopathies are a diverse group of muscle disorders due to mutations in different genes.
The study will focus principally on the identification of new disease genes and the study of mechanisms underlying muscle weakness for inherited congenital myopathies: particularly nemaline myopathy, congenital fibre type disproportion, and central core disease.
This research will have immediate application to clinical practice in terms of diagnostic accuracy, genetic counselling and prenatal diagnosis. In addition, it will provide new and important information concerning normal skeletal muscle biology and disease pathogenesis, as the basis for the development of specific therapies.
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.
- medical and health sciences clinical medicine obstetrics fetal medicine
- natural sciences biological sciences genetics mutation
- medical and health sciences basic medicine pathology
- medical and health sciences basic medicine physiology
- natural sciences biological sciences molecular biology
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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.
FP6-2005-MOBILITY-6
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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.
OIF - Marie Curie actions-Outgoing International Fellowships
Coordinator
PARIS
France
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.