Project description
A novel therapy for epilepsy
Dravet syndrome (DS) is a rare genetic type of epilepsy with seizures that begin early on in life and cause developmental delays. Patients do not respond to conventional medications, and a significant proportion do not reach adulthood. DS is caused by mutations in the SCN1A gene that encodes a transmembrane protein responsible for ion transport in neuronal cells. Funded by the Marie Skłodowska-Curie Actions programme, the miRSodium project aims to understand how the mutated SCN1A isoform emerges during development. The goal is to develop a gene therapy approach for DS based on microRNA mediated regulation.
Objective
Dravet syndrome (DS) is a rare epileptic encephalopathy affecting ~1:20000 children, who suffer from infantile seizures and lifelong deficits in cognitive, motor, behavioural, and social skills. DS can cause premature mortality with up to 21% of patients not reaching adulthood. Despite the known genetic origin – 80% of patients carry a mutation in the SCN1A gene encoding the alpha1 subunit of the sodium voltage gated channel – there is no cure for this disease. The symptoms of DS start at ~ six months of age, shortly after the transition from the developmental Nav1.3 (SCN3A gene) to the postnatal Nav1.1 (SCN1A) channel isoform carrying the mutation. The mechanism of this transition remains unexplained, which hinders the Nav1.3 isoform-based DS therapy. I will build upon the recently discovered miRNAs’ (short, non-coding RNA) regulatory effect on SCN1A and 3A genes to elucidate regulation of the isoform transition. My ULTIMATE AIM is to harness the protective effect of the Nav1.3 isoform via miRNA regulation as a DS treatment. I will untangle the miRNA profile of DS from birth to the symptom onset in a well-established mouse model. Through miRNA expression manipulation, I will resolve miRNA function in SCN1A and 3A regulation, its impact on the brain, and ultimately on DS symptoms. My skills in developmental epilepsy models will combine with Prof Henshall’s expertise in miRNA function and use in treatment (shown by miRNA-based treatments for epilepsy in pre-clinical development) to deliver novel treatment options for devastating DS and advance the field of miRNA regulation in the brain. This training & collaboration with top neurobiologists at three excellent institutions – RCSI (host), UA & UMCU (secondment partners) – will advance my skills & employability and propel my career in developmental neurobiology. It will also contribute to the quality of Europe's research and innovation, increasing its competitiveness and attractiveness as a leading research destination.
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 neurobiology
- medical and health sciences basic medicine neurology epilepsy
- social sciences sociology demography mortality
- natural sciences chemical sciences inorganic chemistry alkali metals
- natural sciences biological sciences genetics mutation
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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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HORIZON.1.2 - Marie Skłodowska-Curie Actions (MSCA)
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Topic(s)
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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
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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
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Call for proposal
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Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
(opens in new window) HORIZON-MSCA-2021-PF-01
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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.
D02 YN77 DUBLIN 2
Ireland
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.