Skip to main content
Przejdź do strony domowej Komisji Europejskiej (odnośnik otworzy się w nowym oknie)
polski pl
CORDIS - Wyniki badań wspieranych przez UE
CORDIS
Zawartość zarchiwizowana w dniu 2024-06-18

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

Cel

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.

Dziedzina nauki (EuroSciVoc)

Słowa kluczowe

Program(-y)

Temat(-y)

Zaproszenie do składania wniosków

FP7-PEOPLE-2007-4-2-IIF
Zobacz inne projekty w ramach tego zaproszenia

System finansowania

MC-IIF - International Incoming Fellowships (IIF)

Koordynator

STICHTING RADBOUD UNIVERSITEIT
Wkład UE
€ 228 507,88
Koszt całkowity
Brak danych