Project description
Modulated autophagy as RTT therapeutic strategy
Rett syndrome is a rare genetic disorder that affects girls almost exclusively and is frequently classified within the autism spectrum. Caused by mutations in related severe neonatal encephalopathy (MECP2), it can lead to severe intellectual disability (ID) in about 1 out 10 000 girls worldwide. A link between autophagy (a self-degradative process crucial for balancing sources of energy) and RTT has been recently suggested, as promising for re-activation of Mecp2 gene to revert the majority of RTT symptoms. The EU-funded RTTOPHAGY project will develop cellular and animal models RTT enabling the identification of the molecular defects responsible for altered autophagy in RTT. This will allow designing a treatment for RTT and other neurodevelopmental defects.
Objective
Intellectual disability (ID) is a generalized neurodevelopmental disorder characterized by deficits in mental abilities, social and motor skills. ID affects about 2-3% of the general population and it is mostly caused by a genetic lesion. Accordingly, mutations in the X-linked MECP2 cause Rett syndrome (RTT), a devastating neurological disorder that, because of its incidence (1:10000), represents the most common form of severe ID in girls worldwide with no approved cure. RTT profoundly affect the lives of affected individuals and their families and represent a considerable burden for health care providers across Europe. While the molecular pathways causing RTT remain mainly unknown, it is recognized that they ultimately lead to prominent alterations of synaptic transmission and neuronal activity. Autophagy is a catabolic process that sequesters aberrant organelles and macromolecules into autophagosomes and delivers it to lysosomes for degradation. Autophagy participates in a variety of events in neuronal cells including synaptic growth and neuronal activity, however, its possible involvement in neurodevelopmental disorders is still mainly neglected. In accordance with a recent study applied to human samples, my preliminary data suggest that autophagy is altered in RTT. By using cellular models of the disease, this project aim at characterize the therapeutic potential of restoring the autophagy pathway in RTT. (i) I will dissect the defective autophagy signaling cascade; (ii) identify target molecules that restore the neuronal dysfunction and synapses transmission; (iii) provide therapeutic targets to treat RTT and other nerudevepmental disorders with impaired autophagy function. My results have the potential to be translated into therapeutics. This research will contribute to provide new clinical targets against RTT. The Experienced Researcher will emerge from the project with new skills, and the capability to lead her own research group.
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
- natural sciences biological sciences genetics mutation
- medical and health sciences basic medicine neurology
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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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H2020-EU.1.3. - EXCELLENT SCIENCE - Marie Skłodowska-Curie Actions
MAIN PROGRAMME
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H2020-EU.1.3.2. - Nurturing excellence by means of cross-border and cross-sector mobility
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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
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.
MSCA-IF-EF-SE - Society and Enterprise panel
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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) H2020-MSCA-IF-2018
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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.
20132 Milano
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.