15th May 2015

Whitworth Art Gallery

The University of Manchester

Oxford Road

Manchester

M15 6ER

09:00 – 09:30 REGISTRATION AND REFRESHMENTS
09:30-10.00 Welcome – Update on Gene Therapy Oxford – R. MacLaren
10:00-10:15 Genetic Testing in Manchester – G. Black
10:15-10:30 Genetic Testing in Oxford – P. Clouston
10:30-11:00 UK Specialist Commissioning – A. Davies
11:00-11.30 TEA
11:30-11.50 Genetics of Glaucoma – A.Viswanathan
 11:50-12:10 Optic Nerve – M. Votruba   
12:10-12.30 Nystagmus – J. Self, Southampton
12:30-12:50  Functional Gene Testing – M. Cheetham
12:50-14:00 LUNCH
14:00-15:15 Case Presentations: 

  • Alan Fryer 
  • Prof. Jill Clayton-Smith 
  • Amanda Churchill:- 
    • “Unusual Ushers”  
    • “Retinal Dystrophy and the 105 Retinal Gene Panel” 
  • Dr Gavin Arno:-
    • “A series of exome sequencing mutations identified in syndromic genes in apparently non-syndromic retinal dystrophy cases”
15:15-15:45 Initiative on Rare Diseases – T. Moore
15:45-16:15 TEA
16.15-16:45 UK EGG Update