Domain Chair:
Prof Gudrun Moore and Prof Neil Marlow
Domain Coordinator:
Dr Claire Glen
The Domains encompass the breadth of research activity across the School of Life and Medical Sciences within nine core groupings.
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
