Autumn Meeting - Friday 10th November 2006 Lecture Theatre 2, Level 4, UBHT Education Centre, Upper Maudlin Street, Bristol BS2 8AE Collagen type II in skeletal dysplasias 9.40 Registration and coffee 10.10 Welcome and outline of day Dr Sarah Smithson, Consultant in Clinical Genetics, Bristol 10.15 Collagen type II: the gene and protein Dr Sarah Smithson and Dr Kristein Hoornaert, PhD in Molecular Genetics, Gent University, Belgium 10.45 Clinical and radiological findings associated with COL2A1 mutations Dr Sarah Smithson and Dr David Grier, Consultant Paediatric Radiologist, Bristol Children’s Hospital 12.00 Namaqualand dysplasia – a South African type II collagenopathy Professor Peter Beighton, Deparment of Genetics, University of Cape Town, South Africa (TBC) 12.15 Taking Xrays of patients with skeletal dysplasias: the radiographers perspective Mrs Donna Dimond, Superintendent Radiographer, Bristol Children’s Hospital 12.30 Lunch 1.15 Annual General Meeting of Skeletal Dysplasia Group 1.30 Surgical management of collagen type II disorders Mr Fergal Monsell, Consultant Paediatric Orthopaedic Surgeon, Bristol Children’s Hospital 2.00 Growth and medical aspects of collagen type II disorders Dr Christine Burren, Consultant Paediatric Endocrinologist, Bristol Children’s Hospital 2.30 The eye in type II collagenopathies Dr Sarah Meredith, Clinical Research Fellow, Department of Ophthalmology, Addenbrooke’s Hospital, Cambridge 3.15 Tea 3.45 Founder member prize presentations Case discussion – please bring cases with you in powerpoint format 4.45 End of meeting Dear Member, Here is the final programme for the Autumn meeting in Bristol. The Annual General Meeting of the Skeletal Dysplasia Group will be held at 1.15pm, during the meeting. The provisional agenda for the meeting is as follows: Annual General Meeting of the Skeletal Dysplasia Group Minutes of last AGM Matters arising from AGM Report by Administrator Report by Hon. Treasurer Election of new officers Any other business Please inform the Administrator, Dr Joanna Fairhurst, if you have any items for the agenda. (email: jo.fairhurst@suht.swest.nhs.uk) Please return the application form for the meeting by Friday 27th October to: Dr Joanna Fairhurst, Consultant Paediatric Radiologist, Children’s Xray Dept, Southampton General Hospital, Tremona Road, Shirley, Southampton, SO16 6YD. ………………………………………………………………………………………………. Name:………………………………………… Address:……………………………………… ……………………………………………...... ……………………………………………….. ……………………………………………….. ……………………………………………….. I would like to attend the Autumn meeting of the SDG and enclose a cheque for £20 made out to the Skeletal Dysplasia Group.