Objective
To systematize and optimize the detection and mapping of disease-associated balanced chromosome re-arrangements (DBCRs) detected by routine cytogenetic laboratories in order to facilitate the identification of novel phenotype/genotype associations.
The task of linking clinical features (phenotype) with mutations (genotype) within the thousands of new genes that will be identified within the coming years, will be formidable. One of the most important key factors behind the successful positional cloning of many disease genes have been disease-associated balanced chromosome re-arrangements (DBCRs) that truncate/inactivate the relevant genes. Although such DBCRs are generally considered to be very rare, they are regularly encountered in diagnostic cytogenetic laboratories. However, most of these cases are never reported since they do not constitute recognisable, known disease entities, and since the individual breakpoints involved rarely can be linked to known mapped disorders. The estimate is, that more than half of these disorders are caused by one or more of the breakpoint(s) involved, by interference with specific genes. Since these associations cannot be defined at the level of individual laboratories, the project will systematise the identification, mapping and cloning of novel DBCRs: 1) by establishing a large network of European cytogenetic laboratories, 2) by establishing a central secretariat and database that will facilitate the collection, comparison, and dissemination of data and material from DBCRs within this network, 3) by the generation and distribution of standardised molecular probes for breakpoint mapping, 4) by the dissemination of technical know-how by targeted training within the network, and 5) by the provision of the necessary technical know-how and facilities for molecular cloning and disease-gene identification for any of the participants.
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 computer and information sciences databases
- natural sciences biological sciences genetics mutation
- natural sciences biological sciences genetics chromosomes
You need to log in or register to use this function
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.
Data not available
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
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
2200 KOEPENHAGEN
Denmark
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.