Objective
Skeletal dysplasias are an extremely complex group of disorders that affect the development of the osseous skeleton. There are over 200 well-characterised phenotypes, which range in severity from mild to severe and lethal forms. Our combined research and demonstration project will establish an integrated research and diagnostic network for skeletal dysplasias [European Skeletal Dysplasia Network (ESDN)]. This multidisciplinary approach will allow us to study comprehensively the molecular genetics and cell- matrix pathology of these diseases. In addition we will demonstrate the viability of molecular diagnosis for skeletal dysplasias by transferring research results into clinical practice. ESDN will improve equity of geographic access to molecular diagnosis for EU citizens and establish laboratory proficiency testing through external quality assessment. Overall, this project will provide new understanding of the pathophysiology of these and more common diseases and allow the development of a service delivery model for the molecular diagnosis of rare genetic diseases.
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 genetics
- natural sciences biological sciences molecular biology molecular genetics
- medical and health sciences basic medicine physiology pathophysiology
- medical and health sciences basic medicine pathology
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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.
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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
M13 0JH MANCHESTER
United Kingdom
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.