Project description
Molecular insight into mTORopathies
The mechanistic target of the rapamycin (mTOR) pathway is a central cellular regulator that integrates nutrients, energy and growth signals to control cell metabolism, proliferation and survival. Dysregulation of this pathway can severely disrupt neuronal function and development. Among the resulting conditions are mTORopathies, a group of genetic disorders that include tuberous sclerosis complex (TSC), a disease associated with reduced life expectancy. With the support of the Marie Skłodowska-Curie Actions programme, the TOR-TREKking project aims to uncover how hyperactivation of mTOR leads to neurological hyperexcitability. Researchers will focus on the TREK1 potassium channel, a newly identified target. Using molecular, cellular and neurophysiological approaches, they will investigate the mechanisms driving TSC and identify potential therapeutic strategies to restore neuronal balance.
Objective
Neurological disorders, such as epilepsy and autism, affect millions of people worldwide with the underlying causes ranging from genetic mutations to developmental issues. Treatment options vary widely from anti-epileptic drugs to more severe approaches such as surgical interventions, underscoring the need to understand the underlying causes for developing effective treatment strategies. Among these neurological disorders are mTORopathies, a group of genetic diseases characterized by the dysregulation of the mechanistic Target Of Rapamycin (mTOR) signaling pathway. The most common mTORopathy, Tuberous Sclerosis Complex (TSC), leads to significant health challenges resulting in a reduced life expectancy of 10-20 years for affected newborns. Despite crucial progress in understanding mTOR dysregulation, the precise mechanisms by which it causes neurological hyperexcitability remain unclear, and current treatments present important limitations. This project aims to unravel the molecular mechanisms driving mTORopathies and to develop targeted therapeutic interventions. The first comprehensive study of phosphorylation landscape in TSC brain in the host laboratory has identified TREK1 potassium channel as a novel target, potentially playing a critical role in the development of epileptic seizures. Using a range of multidisciplinary approaches, from molecular and cell biology techniques to neurological analyses, I aim to gain invaluable insights into the molecular mechanisms underlying mTORopathies. Furthermore, by generating mouse models with modulated TREK1 activity, I aim to identify novel therapeutic strategies to counteract TSC. Understanding the molecular program underlying these diseases is essential to develop targeted therapies that improve patient outcomes. This research can significantly enhance our understanding of neurological disorders and contribute to more effective treatments, ultimately leading to improved outcomes and better quality of life for patients.
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 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)
MAIN PROGRAMME
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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-2024-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.
75006 PARIS
France
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