Objective
Human chromosome 15q11-q14 is characterized by genome instability, allele-specificmethylation and gene expression complexity. Several large segmental duplications relocated at this chromosome region and are known to mediate genomic rearrangements leading to genomic disorders. In addition to Praderj-Willi and Angel man syndromes, complex disorders like autism, schizophrenia and epilepsy are found to be associated with rearrangements of ISqII-qH. The understanding of the genomic organization of the 15q11-q14 regions is the first step towards the detailed analysis of the link between variants at the genomic or molecular level and specific disorders. All versions of the draft sequence of this region are still very preliminary and the understanding of its genomic organization is hampered by the large number of segmental duplications that it contains, the complexity of the orientation of the different copies of the segmental duplications, and the variability that exists in the general population and in parents of patients that suffer from disorders affecting this region. Complete supplicant map of 15q11-q14 has not yet been developed and the major breakpoints of rearrangements have not yet been characterized at a precise molecular level. One of the major goals of this project is to further study the detailed segmental duplications organization of 15q11-q14 and to detect the molecular mechanisms that predispose to their genomic rearrangements. The proposed project also aims to identify the breakpoints of rearrangements in patients with autism that carry either deletions or duplications of 15q11-q14. In these patients, gene dosage effect and/or genes with disrupted structure is likely tube a direct cause of disease. Analysis of molecularly defined rearranged segments will identify such genes and their role in disease.
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
- medical and health sciences clinical medicine psychiatry schizophrenia
- natural sciences biological sciences genetics chromosomes
- 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.
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.
FP6-2002-MOBILITY-5
See other projects for this call
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.
Coordinator
BARCELONA
Spain
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.