23rd February 2005

Institute of Child Health


09:30 Registration/Coffee
£40 (please bring cash or cheque – no credit cards)
10:00 Opening Remarks – Susie/Andrew
10:05 X-linked retinoschisis (XLRS) in the clinic – the impact of genetic testing – Professor Dorothy Trump
10:30 XLRS genetic testing – Dr Jo Whittaker, Cambridge
11:00-11:15 Coffee
 11:15 The MRC gene service and whole genome amplication – Dr Cheng Eng Ang
 11:50 The Illumina platform and the advent of full genome association scans – Sandy McBean
12:30-13:30 Lunch
13:30 The UK-GTN history, philosophy and future – Professor Peter Farndon, Birmingham
14:15 An ‘Eye-Genetic Strategy Document’ – Helen Stewart, Oxford
 14:30 Progress in laboratory testing for XLRP and Sorsby. Future service developments in RP – Simon Ramsden, Jacqueline Rice and Nicki Hart-Holden, Manchester
 15:00-15:15 Tea
 15:15 Consultation cases and discussion issues – members of EGG. Approximately 10 minutes each:

  • Jo Allard, Oxford – Dept of Health initiative for genetic counselling; genetic testing in childhood
  • Patrick Watts, Cardiff
  • Zubin Saihan, London – The National Collaborative Usher Study – purpose and progress
  • David Robinson, Salisbury
  • Sharon Jenkins, London – a family with a rare form of retinal degeneration
  • Robert Henderson, London – Leber’s Congenital Amaurosis – the genotype-phenotype correlations of RPE65
  • Kevin Gregory-Evans, London – When two wrongs DO make a right
  • Cheryl Gregory-Evans, London
  • Susie Downes/Andrea Nemeth, Oxford
16:45 Summary and Close

Proposed date and venue for next meeting:
February 2006 in Manchester