Project description
The search for genetic clues in muscular dystrophy
Neuromuscular diseases are characterised by progressive muscle degeneration that in severe cases may lead to cardiac and respiratory impairment and death. The genetic aetiology is constantly evolving, with thousands of patients suffering from muscular dystrophy (MD) lacking a molecular diagnosis. To assist the identification of mutations in these patients, the EU-funded MUMDUPSC project proposes to generate pluripotent stem cells from patients. Researchers aim to identify the genes and pathways specifically contributing to MD. Project results will improve existing knowledge about these diseases and help patients receive prompt diagnosis and care.
Objective
Neuromuscular Diseases (NMDs), affecting both children and adults with a prevalence of 1 in a 1000 people, form a large and heterogeneous group of genetic diseases causing progressive degeneration of skeletal muscles. Most NMDs result in chronic long-term disability imposing a significant burden on patients, families and public health care. In many cases, patients die prematurely from respiratory, and in some cases cardiac, muscle impairment. There are more than 200 NMDs, including over 30 types of Muscular Dystrophy (MD) which results from the mutation of genes controlling muscle functions and structures. The classification of MDs is not fixed but evolves with the constant discovery of new genes/mutations responsible for these diseases. Despite more than 40 genes involved in MDs have already been identified many genes are still to be discovered. In Europe, thousand patients with MD are currently without molecular diagnosis. Delayed or inaccurate diagnoses postpone the adequate care and may have irreversible consequences for the patients. MUMDUPSC aims combining descriptive clinical diagnosis, genomics and disease modelling from patients’ induced Pluripotent Stem Cells (hiPSC) to identify both molecular mechanisms and genetic mutations underlying undiagnosed muscular dystrophies (UMDs). Specifically, I propose to generate hiPSC from selected UMD patients and investigate their transcription profile during skeletal muscle differentiation compared to control cells (unaffected or affected with known MDs). By identifying, for the first time, DEGs specifically modulated in UMDs, MUMDUPSC will reveal the genes and pathways specifically contributing to the diseases. It will represent a proof of concept for the classification of unlabeled muscle pathologies and, in the long term, will provide innovative leads for the diagnosis and the treatment of these debilitating diseases.
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 health sciences public health
- medical and health sciences basic medicine neurology muscular dystrophies
- medical and health sciences medical biotechnology cells technologies stem cells
- natural sciences biological sciences genetics mutation
- medical and health sciences basic medicine pathology
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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.
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H2020-EU.1.3. - EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions
MAIN PROGRAMME
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H2020-EU.1.3.2. - Nurturing excellence by means of cross-border and cross-sector mobility
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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.
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.
MSCA-IF - Marie Skłodowska-Curie Individual Fellowships (IF)
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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.
(opens in new window) H2020-MSCA-IF-2020
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Net EU financial contribution. The sum of money that the participant receives, deducted by the EU contribution to its linked third party. It considers the distribution of the EU financial contribution between direct beneficiaries of the project and other types of participants, like third-party participants.
13284 Marseille
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.