View conference programme - The British Society for Rheumatology

11:45 Collagen III and V mutations Anne de Paepe
The Ehlers-Danlos syndrome groups a number of inherited connective tissue
disorders in which skin and joint hyperlaxity, easy bruising, dystrophic scarring
and generalized connective tissue fragility are prominent features. Mutations
affecting the biosynthesis and structure of fibrillar collagens are causal in
several EDS subtypes. One of the most severe subtypes, vascular EDS, is
characterized by arterial fragility and reduced life expectancy due to vascular
rupture and results from mutations in the gene encoding type III collagen.
Approximately half of the patients with the classical form of EDS, in which skin
hyperextensibility and fragility are prominent, carry a mutation in one of the
genes encoding type V collagen. The clinical and molecular aspects of these
conditions as well as diagnostic and management issues will be discussed.
12:05 Collagen II, XI and other mutations in Stickler syndrome Martin Snead
Stickler syndrome forms part of the spectrum of type II/XI collagen
chondrodysplasias and is the commonest inherited cause of retinal detachment.
12:25 Extracellular matrix mutations in the epiphyseal and other
chondrodysplaysias Mike Briggs
Multiple epiphyseal dysplasias are inherited bone diseases that are
characterised by joint pain and stiffness and early onset osteoarthritis.
Autosomal dominant forms of these diseases are genetically heterogeneous
and result from mutations in important cartilage structural proteins. Recent
studies have contributed significantly to our understanding of the pathobiology
of these relatively common diseases.
12:45 One gene, many clinical consequences: the lessons from G proteins
Paul Wordsworth
G proteins fulfill a vital role in cell signaling pathways. Activating and
inactivating mutations have been described in the alpha subunit. Depending on
whether these are of maternal or paternal origin widely differing phenotypes
may result (Albright’s hereditary osteodystrophy, progressive osseous
heteroplasia, pseudohypoparathroidism). Somatic mosaicism for activating
mutations results in polyostotic fibrous dysplasia (McCune Albright syndrome).
Authorship acknowledgement: Lisa Miles
13:00 – 14:00 Lunch Cromdale Hall
BSR Biologics Register Open Meeting – progress update for BSR and
BHPR members Tinto/Moorfoot
14:00 – 16:00 BSR: Plenary oral presentations of abstracts Pentland/Sidlaw
Chair: David GI Scott
• Targeting B cells with rituximab: an effective and well tolerated treatment for active
rheumatoid arthritis (RA) John Isaacs
• Heberden’s nodes: what Heberden didn’t see – a high resolution MRI study of the
micro-architectural abnormalities in early and established hand osteoarthritis
Ai Lyn Tan
• Psoriatic arthritis synovitis: a critical role for IL-15 and IL-18? David Kane
• Young Investigator Award Winner: Very early rheumatoid arthritis is characterised
by a unique and transient T cell and stromal cytokine profile Karim Raza
• Moderate alcohol is good for women’s bones Frances Williams
• Michael Mason Prize winner: Autoantibodies, lupus and the science of sabotage
Anisur Rahman
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