Domain Chair:

Prof Gudrun Moore and Prof Neil Marlow

Domain Coordinator:

Dr Claire Glen

Seminars and Events

Friday 18 January 2013 - 9th UK Eye Genetics Group Meeting

Location: Kennedy Lecture Theatre, Wellcome Trust Building, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH

Email: l.browning@ucl.ac.uk or j.sowden@ucl.ac.uk

Programme

08.30 - Registration opens

09.30 - Opening - Prof Jane Sowden, UCL Institute of Child Health

Session 1       Chair: Prof Jane Sowden

9.40     Professor Christopher Hammond, Frost Chair of Ophthalmology, Kings College London

Glaucoma genetics - genome wide association studies and rare variants

10.05   Dr Patrick Yu-Wai-Man, Newcastle University

Mitochondrial eye disorders - an update

10.30   Professor Ken K Nischal, Childrens Hospital of Pittsburgh

Neonatal corneal opacities – genetics and interventions

10.50   Dr Daniel Kelberman, UCL Institute of Child Health

Finding new genetic causes of childhood blindness by homozygosity mapping

11.05 – 11.30 COFFEE BREAK, COMMERCIAL EXHIBITION & POSTERS

Session 2       Chair Dr Lily Islam, UCL Institute of Child Health

11.30   Professor David FitzPatrick, MRC Human Genetics Unit, Edinburgh

Rare genetic variants in developmental eye disease and coloboma – the UK10K project     and future clinical application

11.55   Professor Alison Hardcastle, UCL Institute of Ophthalmology London

X-linked eye diseases

12.25   Dr Nick Lench, Regional Genetics Service, Great Ormond Street Hospital

Broadening horizons in the genetics service laboratory

12.40   Professor Maria Bitner-Glindzicz, UCL Institute of Child Health & Great Ormond Street Hospital

Ethical dilemmas of whole genome analysis

12.55 – 14.00 LUNCH, COMMERCIAL EXHIBITION & POSTERS

Session 3       Chair: Prof Alison Hardcastle, UCL Institute of Ophthalmology

14.00   Professor Andrew Webster, UCL Institute of Ophthalmology and Moorfields Eye Hospital

Usher Syndrome - diagnosis and future treatments

14.25   Dr Dorothy Thompson, Great Ormond Street Hospital

Retinal dysfunction and congenital glycosylation disorders

14.40   Professor Graeme Black, University of Manchester and Central Manchester University Hospital

A patient-led model of care for families with inherited retinal dystrophy 

15.05   Dr Jorn Lakowski, UCL Institute of Child Health

Stem cell therapy for retinal disease

15.20 – 15.45 – TEA BREAK, COMMERCIAL EXHIBITION & POSTERS

Session 4       Chair: Ms Isabelle Russell-Eggitt, Great Ormond Street Hospital

15.45   Ms Suzie Downes, Oxford Eye Hospital and University of Oxford

 New UK EGG constitution and Business Meeting

16.15   Cases/Short reports: Contributions from attendees - diagnostic and counselling dilemmas

17.15  Close