GENEPAD

Genetic and Epigenetic Determinants of Paget's Disease of bone

Coordinatore	THE UNIVERSITY OF EDINBURGH    more Spiacenti, non ci sono informazioni su questo coordinatore. Contattare Fabio per maggiori infomrazioni, grazie.
Nazionalità Coordinatore	United Kingdom [UK]
Totale costo	1˙493˙543 €
EC contributo	1˙493˙543 €
Programma	FP7-IDEAS-ERC Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)
Code Call	ERC-2012-StG_20111109
Funding Scheme	ERC-SG
Anno di inizio	2012
Periodo (anno-mese-giorno)	2012-10-01   -   2017-09-30

 Partecipanti

#	participant	country	role	EC contrib. [€]
1	THE UNIVERSITY OF EDINBURGH  Organization address address: OLD COLLEGE, SOUTH BRIDGE city: EDINBURGH postcode: EH8 9YL contact info Titolo: Dr. Nome: Omar Cognome: Albagha Email: send email Telefono: +44 131 6511022	UK (EDINBURGH)	hostInstitution	1˙493˙543.60
2	THE UNIVERSITY OF EDINBURGH  Organization address address: OLD COLLEGE, SOUTH BRIDGE city: EDINBURGH postcode: EH8 9YL contact info Titolo: Mrs. Nome: Angela Cognome: Noble Email: send email Telefono: +44 131 650 9024 Fax: +44131 651 4028	UK (EDINBURGH)	hostInstitution	1˙493˙543.60

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 Obiettivo del progetto (Objective)

'Paget’s disease of bone (PDB) is a common disease characterised by focal areas of increased bone turnover leading to symptoms of bone pain, deformity, osteoarthritis and other complications. Genetic factors play an important role in PDB and mutations in SQSTM1 gene are responsible for ~10% of PDB cases with high penetrance. We have recently identified seven additional susceptibility loci for PDB using genome-wide association studies (Albagha et al, 2011; Nat Genet). These recently identified loci have a combined effect that explained about 13% of familial risk suggesting that other genetic factors remain to be identified. The aims of this project are three fold: 1) to define the functional variants in the recently identified susceptibility loci using targeted DNA sequencing, 2) To identify novel genetic variants for disease susceptibility using exome sequencing in PDB patients without SQSTM1 mutations, 3) To investigate the role of epigenetic factors and their interaction with genetic factors in the pathogenesis of PDB. We will study genome-wide DNA methylation patterns in PDB patients and controls to identify differentially methylated sites associated with PDB. The contribution of epigenetic factors to the focal nature of PDB will be studied using an animal model of PDB to assess if epigenetic changes are specific to bone lesions and to determine if these changes contribute to disease development or occur as a consequence of the disease. Identification of genetic and epigenetic factors that predispose to PDB will increase our understanding of disease mechanisms and could also identify novel molecular pathways that could form targets for new therapeutic treatment not only for Paget’s disease, but also other diseases associated with increased bone turnover. These factors could be used as markers for disease susceptibility to assess people at risk of developing PDB later in life and target those with the highest risk for early treatment.'