Objective
RNA metabolism is regulated by multiple post-transcriptional layers, primarily orchestrated by RNA-binding proteins (RBPs). When disrupted these processes can lead to diseases like myotonic dystrophy type 1 (DM1), a rare inherited disorder affecting skeletal muscle. DM1 is caused by an expansion of trinucleotides in the DMPK gene, leading to accumulation of RNA foci and deregulation of RNA metabolism. The mutation was identified in 1992 but aspects of its pathophysiology are not understood and there is no cure.
A promising area of research is the potential alteration of the m6A epitranscriptome in DM1. A major discovery in gene regulation is the presence of modified nucleotides like N6-methyladenosine (m6A), which affect RNA fate. Defects in m6A have been linked to various diseases but its role in muscular dystrophies including DM1 remains unexplored. m6A is regulated by writers that add and erasers that remove the modification. In DM1, the erasers FTO and ALKBH5 are deregulated. Once added m6A marks are recognised by readers which mediate their cellular effects. m6A readers are crucial to skeletal muscle physiology but their involvement in DM1 is unknown.
EpiDM project hypothesises that altered m6A demethylases activity leads to hypermethylation, impacting RNA function and muscle physiology. Its objectives are to 1) map and characterize m6a’s role in DM1, 2) identify m6A readers involved in the disease and 3) explore the therapeutic potential of targeting m6A methylation to restore muscle function.
My expertise will be combined with the host lab’s by leveraging DM1 models and next-generation sequencing techniques to study m6A and RBPs, and developing innovative therapies. By pioneering this research EpiDM will uncover the regulation of novel RNA pathways in skeletal muscle, advancing understanding of DM1 and identifying new therapeutic targets for muscular dystrophies. Finally it aligns with European initiatives focused on rare diseases and epitranscriptomics.
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 basic medicine physiology pathophysiology
- natural sciences biological sciences genetics mutation
- natural sciences biological sciences genetics nucleotides
- natural sciences biological sciences genetics RNA
You need to log in or register to use this function
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.
-
HORIZON.1.2 - Marie Skłodowska-Curie Actions (MSCA)
MAIN PROGRAMME
See all projects funded under this programme
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.
HORIZON-TMA-MSCA-PF-EF - HORIZON TMA MSCA Postdoctoral Fellowships - European Fellowships
See all projects funded under this funding scheme
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) HORIZON-MSCA-2024-PF-01
See all projects funded under this callCoordinator
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.
75654 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.