UK-EGG
Links
Genetic Testing within NHS England
Genetic testing within NHS England are co-ordinated by a single national testing network called the NHS Genomic Medicine Service, which consists of seven genomic laboratory hubs (GLHs) across the country. Testing for rare ophthalmic conditions are conducted in the following GLHs:
- London North GLH led by Great Ormond Street Hospital for Children NHS Foundation Trust
- West Midlands, Oxford and Wessex GLH
- North West GLH led by Manchester University NHS Foundation Trust
Genetic Testing UK and Worldwide Information Sources
Genetic services across the UK
Prof Mariya Moosajee, Prof Andrew Webster, Prof Michel Michaelides, Dr Omar Mahroo and Dr Patrick Yu Wai Man
Moorfields Eye Hospital NHS Foundation Trust
https://www.moorfields.nhs.uk
Prof Christopher Lloyd, Mr Robert Henderson and Prof Mariya Moosajee
Great Ormond Street Hospital for Children
https://www.gosh.nhs.uk
Prof Graeme Black and Dr Jane Ashworth
Central Manchester University Hospitals NHS Foundation Trust
https://mft.nhs.uk
Mr Martin McKibbin
The Leeds Teaching Hospitals NHS Trust
https://www.leedsth.nhs.uk
Miss Amanda Churchill
Bristol Eye Hospital
http://www.uhbristol.nhs.uk
Prof Susan Downes, Prof Robert MacLaren, Dr Helen Stewart
Oxford University Hospitals NHS Foundation Trust
https://www.ouh.nhs.uk
Mr Ajay Kotagiri, Mr Lawrence Gnanaraj and Mr Peter Tiffin
Sunderland Eye Infirmary
https://www.stsft.nhs.uk/services/sunderland-eye-infirmary
Prof Andrew Lotery and Dr Jay Self
University Hospital Southampton
https://www.uhs.nhs.uk
Ms. Savita Madhusudhan
St. Paul’s Eye Unit, Royal Liverpool University Hospital
https://www.liverpoolft.nhs.uk/
Prof Marcela Votruba
Cardiff Eye Unit, Cardiff & Vale University Health Board
https://cavuhb.nhs.wales/our-services/ophthalmology/
Prof Daniela Pilz and Dr David Gilmour
Gartnavel General Hospital, NHS Greater Glasgow and Clyde.
https://www.nhsggc.org.uk
Dr Roly Megaw
Princess Alexandra Eye Pavilion
https://www.nhslothian.scot/
Miss Louise Downey
Hull University Teaching Hospitals NHS Trust
https://www.hey.nhs.uk
Miss Louise Allen, Prof Geoff Woods, Dr Patrick Yu Wai Man and Mr Liam Sullivan
Cambridge University Hospitals NHS Trust
https://www.cuh.nhs.uk
Dr Rupal Morjaria
Sandwell & West Birmingham NHS Trust
https://www.swbh.nhs.uk
Genetic Meetings
Gene and Mutation Databases
- Retnet (a database of inherited retinal diseases and genes)
- Human Gene Mutation Database – Cardiff
- Online Mendelian Inheritance in Man
- Retina International (a comprehensive database of mutations
and genes causing retinal degeneration)
Relevant Publications
OTHERS
- Genetic Interest Group
- Vision 2020 UK
- Women in Vision UK network website
- ISGEDR – International Society for Genetic Eye Diseases and Retinoblastoma
- Help for Visually Impaired Users
Patient Support Groups and Resources
- Esme’s Umbrella – www.charlesbonnetsyndrome.uk
- Royal National Institute of Blind People
- Sense
- Macular Society
- RP Fighting Blindness
- Libraries and producers of Braille music
- Guide Dogs for the Blind
- Action for Blind People
- Genetic Alliance UK (Lists many support groups relevant to genetic disease)
- Help for Visually Impaired Users
Organisations Sponsoring Research
UK-EGG
16 years of support for ophthalmic clinicians and clinical geneticists