Research Groups

Current and future projects

Current

• Structural and functional studies of the matilin-1 and matrilin-3 A-domains and their role in cartilage ECM assembly (Ms Maryline Fresquet)
• The role ER stress and UPR in Ehlers Danlos Syndrome caused be type III collagen defects (Ms Maryline Fresquet)
• The role of matrilin-1 in skeletal development, chondrodysplasia and disease severity.(Mr Peter Bell)
• The musculoskeletal complications of chondrodysplasias caused by mutations in COMP, matrilin-3 and type IX collagen.(Dr Katarzyna Pirog)
• The role of type IX collagen in the pathogenesis of skeletal dysplasia through the generation and in-depth analysis of a targeted mouse model.(Dr Katarzyna Pirog)
• Pseudoachondroplasia caused by the C-terminal pT585M COMP mutation is associated with a conventional unfolded protein response and CHOP mediated apoptosis. (Dr Katarzyna Pirog)
• Pseudoachondroplasia caused by the common pD469Del COMP mutation is associated with a non-conventional unfolded protein response and the role of oxidative stress in growth plate pathophysiology.(Dr Benedetta Gualeni)
• The role of ARMET/MANF and Creld2, two newly discovered ER stress genes, in the development and pathogenesis of multiple epiphyseal dysplasia caused by matrilin-3 mutations (Dr Claire Hartley and Ms Sarah Edwards)
• dREAMS: Dynamic Radiological Electronic Atlas of Malformation Syndromes (http://d-reams.org/) (Dr Mike Briggs and Certus Technologies)


Future

• Identification of genetic modifiers of phenotypic severity in chondrodysplasias