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Content archived on 2024-06-18

A program for high throughput molecular diagnostics of the mutation negative syndromic and nonsyndromic craniosynostoses

Objective

Objectives: To identify the genetic basis of FGFR and TWIST1 mutation negative syndromic and nonsyndromic craniosynostosis Research Plan: Patient cells from the sutures of FGFR and TWIST1 mutation negative syndromic and nonsyndromic craniosynostosis will be screened for mutations using two genetic approaches. Firstly genomic DNA from the patient cells will be hybridised to Affymetrix snp microarrays to determine copy number variation. Secondly the transcriptome of cranial suture cells will be sequenced using the ABI SOLiD technology to identify high quality snps. If successful this project will identify cryptic cytogenetic or point mutations in critical genes that regulate the morphogenesis of cranial sutures. Relevance to work program: This project is intended to be coordinated with an application from a consortium of European molecular genetics diagnostic laboratories for innovative approaches to mutation identification in genetic disorders.

Fields of science (EuroSciVoc)

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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)

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.

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

FP7-PEOPLE-2007-4-2-IIF
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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.

MC-IIF - International Incoming Fellowships (IIF)

Coordinator

STICHTING RADBOUD UNIVERSITEIT
EU contribution
€ 228 507,88
Address
HOUTLAAN 4
6525 XZ Nijmegen
Netherlands

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Region
Oost-Nederland Gelderland Arnhem/Nijmegen
Activity type
Higher or Secondary Education Establishments
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Total cost

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.

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