Objective
SNARE proteins are essential for brain cell communication. They enable the release of signaling molecules like neurotransmitters and neuropeptides by facilitating the fusion of storage vesicles with the cell membrane. Mutations in genes coding for SNARE proteins cause a group of neurodevelopmental disorders known as SNAREopathies, which can include symptoms such as seizures, developmental delays, autism, and motor or speech impairments. SNAREopathies show very high phenotypic diversity even for patients carrying the same mutation, suggesting that other factors—like the patient's genetic background or other developmental processes—may influence the disease phenotype.
One critical process in the brain development is the “GABA-switch”, which determine the GABA neurotransmitter’s action on neurons; early in development, GABA excites neurons; later, it becomes inhibitory. This switch is vital for the brain to form stable and balanced networks, and it depends on precise control of chloride levels inside neurons. Disruption of this switch has been linked to disorders such as epilepsy and autism.
My project will use human neurons derived from stem cells carrying patient-specific SNARE variants to study how these variants affect the timing and function of the GABA-switch. I will develop a novel high-throughput, microscopy-based assay that simultaneously measures intracellular chloride concentration and neuronal network activity, allowing precise determination of the timing of the GABA-switch and its relationship to changes in neuronal activity. The functional analysis will be complemented by molecular profiling to uncover underlying mechanisms of affected molecular pathways in SNAREopathies. Finally, I will use my high-throughput microscopy platform to screen candidate compounds with the potential to restore proper signaling in affected neurons. This project will help to better understand SNAREopathies and lay the groundwork for new therapeutic strategies.
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 neurology epilepsy
- natural sciences biological sciences biochemistry biomolecules proteins
- natural sciences physical sciences optics microscopy
- 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)
MAIN PROGRAMME
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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.
HORIZON-TMA-MSCA-PF-EF - HORIZON TMA MSCA Postdoctoral Fellowships - European Fellowships
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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) HORIZON-MSCA-2025-PF
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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.
1165 KOBENHAVN
Denmark
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.