Objective
Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder and the leading known genetic cause of autism in girls. RTT is characterized by normal early development followed by cognitive, motor and language regression. Mutations in the X-linked MECP2 (methyl-CpG binding protein 2) gene account for at least 80% of RTT cases. In mouse models, CNS-specific deletion of Mecp2 is sufficient to cause Rett-like symptoms. In patients as well as in the mouse models, the involved CNS circuits do not show atrophy but rather remain in an immature state. Although there is no known cure for RTT, gene therapy in MeCP2 mutant mouse models has proven effective in rescuing the phenotype, showing that this neurological condition may be reversible. A therapy for human use might arise from identifying an agent capable of stimulating brain circuit maturation if applied systemically. This proposal identifies such an agent in the form of insulin-like growth factor 1 (IGF1), a pleiotrophic growth factor in the brain. IGF1 specifically targets many of the systems and features impaired in RTT such as cell size and dendritic arborization, synapse maturation, the gabaergic system, hippocampal learning and plasticity, and cognitive abilities. IGF1 is capable of crossing the blood-brain barrier and has already been approved for human clinical trials. IGF1 thus offers a means to reverse the RTT phenotype by engaging key molecular pathways to stimulate synaptic maturation, in a format that is more amenable to therapeutic administration to RTT patients. This proposal aims to clarify the neurobiology of MeCP2 protein in MECP2 mutant animal models and to test the efficacy of IGF1 and its derivates for RTT therapy. Successful therapies for RTT have significant implications for other autism spectrum and neurodevelopmental 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 neurobiology
- medical and health sciences medical biotechnology genetic engineering gene therapy
- natural sciences biological sciences biochemistry biomolecules proteins
- natural sciences biological sciences genetics mutation
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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.
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.
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.
FP7-PEOPLE-2009-RG
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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.
Coordinator
D02 CX56 Dublin
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.