18th January 2013

UCL Institute of Child Health

Kennedy Lecture Theatre

and Great Ormond Street Hospital for Children

08:30

REGISTRATION OPENS

09:30

Opening – Professor Jane Sowden
  Session I – Chair:  Jane Sowden

09:40

Glaucoma Genetics – genome wide association studies and rare variants: Professor Christopher Hammond, Frost Chair of Ophthalmology, Kings College, London

10:05

Mitochondrial eye disorders – an update: Dr Patrick  Yu-Wai-Man, Newcastle University

10:30

Neonatal corneal opacities – genetics and interventions: Professor Ken K Nischal, Childrens Hospital of Pittsburgh

10:50

Finding new genetic causes of childhood blindness by homozygosity mapping: Dr Daniel Kelberman, UCL Institute of Child Health
11:05 -11:30 COFFEE BREAK, COMMERCIAL EXHIBITION AND POSTERS
  Session II – Chair: Dr Lily Islam, UCL Institute of Child Health

 11:30

Rare genetic variants in developmental eye disease and coloboma – the UK10K project and future clinical application: Professor David FitzPatrick, MRC Human Genetics Unit, Edinburgh

 11:55

X-linked eye diseases: Professor Alison Hardcastle, UCL Institute of Ophthalmology London   

12:25

Broadening horizons in the genetics service laboratory:
Dr NickLench, Regional Genetics Service, Great Ormond
Street Hospital

12:40

 Ethical dilemmas of whole genome analysis:  Professor
 Maria Bitner-Glindzicz, UCL Institute of Child Health & Great
 Ormond Street Hospital

12:55 -14:00

LUNCH, COMMERCIAL EXHIBITION AND POSTERS
  Session III – Chair:  Alison Hardcastle, UCL Institute of Ophthalmology

14:00

Usher Syndrome – diagnosis and future treatments:Professor Andrew Webster, UCL Institute of Ophthalmology and Moorfields Eye Hospital

14:25

Retinal dysfunction and congenital glycosylation disorders: Dr Dorothy Thompson, Great Ormond Street Hospital 

14:40

A patient-led model of care for families with inherited retinal dystrophy: Professor Graeme Black, University of Manchester and Central Manchester University Hospital

15:05

Stem cell therapy for retinal disease: Dr Jorn Lakowski, UCL Institute of Child Health

15:20 -15:45

TEA BREAK, COMMERCIAL EXHIBITION AND POSTERS
  Session IV – Chair:  Ms Isabelle Russell-Eggitt, Great Ormond Street Hospital

 15:45

New UK EGG constitution and business meeting: Ms Susie Downes, Oxford Eye Hospital and University of Oxford

16:15

Cases/short reports: contributions from attendees – diagnostic and counselling dilemmas  

 17:15

 CLOSE