Monthly Archives: June 2014

Rare disease talks at MBE 2014 in Rotterdam this week

MBE 2014

Looking forward to some rare disease talks at 1st MBE (Matrix Biology Europe) conference (XXIVth FECTS meeting) 21 – 24 June 2014

New insights in collagen processing as revealed by autosomal recessive forms of osteogenesis imperfecta (Joan Marini – Bethesda)

Defective proteolytic processing of fibrillar procollagens and other extracellular matrix proteins due to mutations in BMP1 result in a severe form of osteogenesis imperfecta (Delfien Syx – Ghent)

Skeletal dysplasias and the molecular pathology of the unfolded protein response (John Bateman – Melbourne)

ECM mutations in multiple epiphyseal dysplasias and pseudoachondrodysplasia (Michael Briggs – Newcastle)

The effect of fibrillin mutations: Altered TGF-beta and heparin binding results in a variety of connective tissue diseases (Cay Kielty – Manchester)

Mesenchymal stromal cell therapy for recessive dystrophic epidermolysis bullosa (Tobias Kühl – Freiburg)

Nonsense-mediated mRNA decay of collagen – emerging complexity in RNA surveillance mechanisms (Shireen Lamandé – Melbourne)

Basement membranes and human disease (Leena Bruckner-Tuderman – Freiburg)

HANAC Col4A1 mutation in mice causes a muscular disease with endoplamic reticulum stress and vascular defects (Emmanuelle Plaisier – Paris)

Chemical chaperone treatment to target haemorrhagic stroke caused by collagen IV mutations (Tom Van Agtmael – Glasgow)

Full Programme here 2. 1st MBE Conference 2014 Program