Objective
Down syndrome (DS) is the most common genetic cause of mental retardation and in most cases is due to three full copies of human chromosome 21 (HC21). Mental retardation in DS is probably a consequence of the anomalous development of the central nervous system, so genes which show temporal or high levels of expression during the development of the central nervous system may be of special importance in DS, especially in the pathogenesis of mental retardation. Recently, the human homologue of the Drosophila minibrain gene was isolated from HC21. Its location, together with its probable function in neurogenesis, supports MNB as a strong candidate gene to produce some of the neurological abnormalities present in DS patients. To determine the biological function of MNB, I propose to knockout the gene in mouse and to assess the contribution of MNB dysfunction to the abnormal brain development and mental retardation observed in DS.
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 mathematics pure mathematics mathematical analysis functional analysis
- natural sciences biological sciences genetics chromosomes
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Programme(s)
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Multi-annual funding programmes that define the EU’s priorities for research and innovation.
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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.
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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
08907 HOSPITALET DEL LLOBREGAT
Spain
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