20th January 2012

University of Bristol

Lecture Theatre 1

Medical Education Centre

Upper Maudlin Street

Bristol

09:30

REGISTRATION

10:00

Introduction – Amanda Churchill

10:10

PITX2 /FOXC1 NHS Service – Kenny Smith
10:30 UK Stickler Service – Martin Snead

10:50

Attitudes to Genetic Testing – Martin McKibbin
11:00 -11:30 COFFEE BREAK AND COMMERCIAL EXHIBITION

 11:30

Findings of the ‘Regard Study’ – Graeme Black
 11:50 UK Genetic Testing Service for Retinal Disease – Susie Downes

12:00

Mitochondrial Mutations and Eye Disease – Marcela Votruba

12:20

 Stem Cell Treatments in Retinal Disease – Pete Coffey

13:00 -13:55

LUNCH AND COMMERCIAL EXHIBITION
13:55 Interesting Cases – Contributions from Attendees
 14:30 Genetics of Age-Related Macular Degeneration – Andrew Lotery
14:50 Pharmacogenetics in Eye Disease – Denize Atan/Amanda Churchill

15:05 -15:30

TEA BREAK AND COMMERCIAL EXHIBITION
 15:30 UK EGG Business Meeting – Amanda Churchill

15:45

 Uses of Next Generation Sequencing in Rare Diseases – Ruth  Newbury-Ecob/Maggie Williams
16:10  Approaches to Genetic Studies of Common Disease – Ian Day
 16:45  CLOSE