Objective
Troyer Syndrome (TS) is a rare and complex variant of Hereditary Spastic Paraplegia (HSP), driven by mutations in the SPG20 gene, which encodes the Spartin protein (SPART). This syndrome, characterized by neurodevelopmental impairments, remains poorly understood, particularly regarding the impact of SPART mutations on mitochondrial function. Although genomic technologies like Whole Exome and Whole Genome Sequencing have advanced our knowledge, the link between SPART mutations and metabolic dysfunctions in TS is still unclear. This project aims to fill this gap by integrating transcriptomics and metabolomics to study the effects of SPART mutations across three cellular models: fibroblasts derived from TS patients, motor neurons differentiated from patient-derived iPSCs, and CRISPR-Cas9-edited cells carrying specific SPART mutations. The hypothesis is that SPART mutations disrupt mitochondrial metabolic processes, which are central to TS pathogenesis. By employing these advanced -omics and functional approaches, we will map the metabolic alterations, aiming to correct these dysfunctions through targeted metabolite supplementation. This research not only offers a novel perspective on the molecular mechanisms underlying TS but also paves the way for potential therapeutic interventions. The project will significantly enhance my expertise in cutting-edge biomedical research while contributing valuable insights to the field of neurodegenerative diseases, potentially leading to improved diagnostics and therapies for TS and related disorders.
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 biochemistry biomolecules proteins
- natural sciences biological sciences genetics mutation
- natural sciences biological sciences genetics genomes
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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-GF - HORIZON TMA MSCA Postdoctoral Fellowships - Global 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.
40126 Bologna
Italy
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.