CRANIOTECHGENE

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

Coordinatore	STICHTING KATHOLIEKE UNIVERSITEIT    more  Organization address address: GEERT GROOTEPLEIN NOORD 9 city: NIJMEGEN postcode: 6525 EZ contact info Titolo: Mr. Nome: Wil Cognome: Groen Email: send email Telefono: -3616723 Fax: -3668807
Nazionalità Coordinatore	Netherlands [NL]
Totale costo	228˙507 €
EC contributo	228˙507 €
Programma	FP7-PEOPLE Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	FP7-PEOPLE-2007-4-2-IIF
Funding Scheme	MC-IIF
Anno di inizio	2008
Periodo (anno-mese-giorno)	2008-07-01   -   2010-06-30

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	STICHTING KATHOLIEKE UNIVERSITEIT  Organization address address: GEERT GROOTEPLEIN NOORD 9 city: NIJMEGEN postcode: 6525 EZ contact info Titolo: Mr. Nome: Wil Cognome: Groen Email: send email Telefono: -3616723 Fax: -3668807	NL (NIJMEGEN)	coordinator	0.00

Mappa

 Word cloud

Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.

 Obiettivo del progetto (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.

Introduzione (Teaser)

Craniosynostosis occurs in an infant's skull when the naturally free-floating bones fuse earlier they should. This restricts the growth of an infant's brain and may cause topical pressure and problems with vision.

Descrizione progetto (Article)

'A program for high throughput molecular diagnostics of the mutation negative syndromic and nonsyndromic craniosynostoses' (Craniotechgene) is a project aiming to identify novel genes that contribute to non-syndromic craniosynostosis (NSC). Using new strategies for identifying copy number variations and next generation sequencing of patient samples, researchers successfully discovered two novel genes for NSC.

The FREM1 gene was identified as a candidate gene for metopic craniosynostosis, which begins at the nose and progresses towards the top of the skull. Study results revealed that mutations in FREM1 could account for up to 7;% of such cases. This particular study was presented at a 2010 meeting of the European Society of Human Genetics and is currently under peer review for publication.

The second gene identified, a member of the Leucine-Rich Repeat (LRR) gene family, is still undergoing validation studies and requires additional work before it can be considered as a completed study.

The outcomes of this project will have implications for generating knowledge about critical genes involved in regulating the biological processes that take place in cranial bone fusion. Development of genomic therapies mean that corrective surgery for the disorder could be avoided.