UK-EGG
“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”
Previous Meetings
2019 Glasgow UK-EGG Annual Meeting
The 2019 UK-EGG annual meeting was held in Glasgow on 8th November 2019. 57 people attended and we received overwhelmingly positive feedback about the overall content of the sessions and the overall organisation of the meeting (more than 76% of you thought these were “excellent”). Many of you commented on the interesting variety of talks, and the high quality of presentations across the board. We were also pleased to hear that you enjoyed the friendly atmosphere of the meeting, and thought that the venue and catering were excellent.
We improved poster presentations on last year (35% of you thought these were just “adequate” or “good”, compared to 61% last year) but we will continue to strive to improve this for next year. In order to display more posters and have more free papers we need more abstract submissions so we would urge you to send abstracts and unusual or unsolved clinical cases in good time. Congratulations to our two winners of the prizes for the best free paper (Siying Lin) and poster (Chloe Stanton) – see photos below. Look out for details of the posters and free papers on the education webpage in the coming weeks.
In response to feedback we will improve the online registration process next year, including advertising more widely and providing clearer directions to the venue. We will also strive to reduce plastic waste, and provide re-usable cups next year. Finally, we will introduce timers for speakers and better microphones for speakers and audience next year.
Our 2019 Keynote speaker, Professor Veronica van Heyningen gave an excellent talk on ‘Disease to genes and biology: PAX6 and progress’ highlighting the significant improvements in both knowledge and genetic techniques over the last 30 years. The patient perspective session was particularly well-received this year, with Andrew Pettigrew entertaining us with a selection of his poems, as well as sharing with us his experience of living with a visual impairment. Our aim will be to include a patient perspective in the meeting programme where possible. It serves as a great reminder of why we have chosen to work in this area of ophthalmology.
Building on the success of last year, a specific session was set aside for genetic counsellors and nurses in genetic ophthalmology, in addition to an informal lunchtime meeting for this group of professionals. Presentations were recorded with permission from the speakers and these will be available to members only at https://ukegg.com Check your email for the password. Should you wish to propose a future Keynote speaker, or have any suggestion for the 2020 meeting, please let one of the committee members know.
We welcomed new members to the Executive: Denize Atan and Mariya Moosajee as joint Chairs of UKEGG, and Gabrielle Wheway as Secretary and thanked the departing members for all their hard work over the years: Amanda Churchill (Chair), Stuart Ingram (Secretary) and Daniela Pilz (Meeting Organiser). Georgina Hall will be stepping down as Treasurer in February 2020 and replaced by Carmel Toomes.
UK-EGG would like to say a huge thank you to Daniela and everyone at Queen Elizabeth University Hospital Glasgow for such a fantastic job organising and hosting the meeting, and to Geoff Cross for providing AV services. And of course thank you to our members and attendees!
We look forward to seeing you in London on Tuesday, November 24th, 2020!
Amanda Churchill and Gabrielle Wheway
2018 – Birmingham
Our 2018 Meeting was this year held on November 1st in the UK’s ‘second city’ Birmingham. Our venue was the wonderful Birmingham Childrens Hospital. Whilst you wait for the meeting HD Screencasts to be composed then reviewed, why not browse through our favourite photographs of the event. A full report of the meeting together with screencasts are available here. Please contact stuart.ingram@mft.nhs.uk if you have not received the password to access these.
2017 – Leeds
Filling up Fast:
Did you miss the Joint UK-EGG and ISGEDR Meeting last September? Want to revisit Andreas Gal’s wonderful François Lecture? Never fear, almost sixteen hours of HD Screencasts covering all three days of presentations including Parallel Session are AVAILABLE NOW…
16th November 2017
12th Annual meeting of UK-EGG
Joint UK-EGG/ISGEDR
September 14th to 16th, 2017
Leeds
This year’s annual conference was held jointly with the International Society for Genetic Eye Diseases and Retinoblastoma (ISGEDR). We had 180 delegates from 20 countries for a three day meeting at the Rose Bowl in Leeds. There was a full programme with invited speakers, submitted abstracts and concurrent sessions on a wide range of topics around science discovery, clinical management, updates on treatment trials, clinical case discussion and patient experiences. For the full programme, click here.
Co-hosting a joint meeting was a great success, attracting international researchers and clinicians across the field of ophthalmic genetics, giving an opportunity to showcase work from the UK and importantly provided a great environment to develop new international collaborations and working relationships. The quality of the presentations, both spoken and posters, were excellent, it was a highly informative and dynamic meeting.
We extend our thanks to our inaugural UK-EGG keynote lecturer Professor Andrew Read, to the joint organizing committee, especially Amanda Churchill from UK EGG and the joint scientific committee. We are also very grateful to the host team in Leeds for organizing such a professional meeting in an excellent venue and a great conference dinner (Carmel Toomes, Chris Inglehearn, Martin McKibbin.
For UK-EGG members to the meeting, please view the lectures from the meeting here. Please contact stuart.ingram@mft.nhs.uk if you have not received the password to access these.
Georgina Hall
Outgoing Chair UK EGG
2017 Joint UK-EGG and ISGEDR Meeting Screencasts
Available NOW:
To give you a flavour of the meeting, here is our Montage Video:
Access to the screencasts is on a Members Only password-protected page:
To view the screencasts you will need a password, which should have been sent to you recently. Contact either of the following: Catherine Willis catherine.willis@uhs.nhs.uk or Stuart Ingram stuart.ingram@cmft.nhs.uk if you haven’t received your password.
Links to our other Screencasts
Joint UK-EGG/ISGEDR Meeting Gallery
2016 – Southampton
UK-EGG meeting 2016 – Southampton
Another excellent UK-EGG meeting hosted by Professor Andrew Lotery and his colleagues in Southampton with a series of lectures and cases on extremely interesting and highly relevant topics.
To view the programme please click here.
UK-EGG 2016 PhD Prize
Katie Williams receiving the PhD Prize at UK-EGG meeting 2016 held in Southampton, congratulated by Prof Susie Downes outgoing Chair of UK EGG.
Friday 25th November 2016 9:00 – 17:30.
Grand Harbour Hotel
West Quay Road
Southampton, SO15 1AG
Click here to see the Southampton 2016 UK EGG meeting poster.
2016 – The EyeTN Final Conference
2015 – Manchester – Whitworth Art Gallery
Whitworth Art Gallery
The University of Manchester
Oxford Road
Manchester
M15 6ER
09:00 – 09:30 | REGISTRATION AND REFRESHMENTS |
09:30-10.00 | Welcome – Update on Gene Therapy Oxford – R. MacLaren |
10:00-10:15 | Genetic Testing in Manchester – G. Black |
10:15-10:30 | Genetic Testing in Oxford – P. Clouston |
10:30-11:00 | UK Specialist Commissioning – A. Davies |
11:00-11.30 | TEA |
11:30-11.50 | Genetics of Glaucoma – A.Viswanathan |
11:50-12:10 | Optic Nerve – M. Votruba |
12:10-12.30 | Nystagmus – J. Self, Southampton |
12:30-12:50 | Functional Gene Testing – M. Cheetham |
12:50-14:00 | LUNCH |
14:00-15:15 |
Case Presentations:
|
15:15-15:45 | Initiative on Rare Diseases – T. Moore |
15:45-16:15 | TEA |
16.15-16:45 | UK EGG Update |
2014 – Oxford – St John’s College
St John’s College
Auditorium
Oxford
OX1 3JP
09:00 – 09:30 | REGISTRATION AND REFRESHMENTS |
09:30-10.00 | Welcome – Update on Gene Therapy Oxford – R. MacLaren |
10:00-10:15 | Genetic Testing in Manchester – G. Black |
10:15-10:30 | Genetic Testing in Oxford – P. Clouston |
10:30-11:00 | UK Specialist Commissioning – A. Davies |
11:00-11.30 | TEA |
11:30-11.50 | Genetics of Glaucoma – A.Viswanathan |
11:50-12:10 | Optic Nerve – M. Votruba |
12:10-12.30 | Nystagmus – J. Self, Southampton |
12:30-12:50 | Functional Gene Testing – M. Cheetham |
12:50-14:00 | LUNCH |
14:00-15:15 |
Case Presentations:
|
15:15-15:45 | Initiative on Rare Diseases – T. Moore |
15:45-16:15 | TEA |
16.15-16:45 | UK EGG Update |
2013 – London – UCL and GOSH
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: |
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 |
2012 – Bristol – University of Bristol
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 |
2011 – Oxford – St Anne’s College
Oxford University
The Tsuzuki Lecture Theatre
St Anne’s College
Woodstock Road
Oxford. OX2 6HS
09:30 |
Registration/Start |
10:00 |
Introduction: Susan Downes |
10:05 |
Inherited Retinal Degenerations. Where are we now and what next? Alan Wright |
10:30 | Genetic testing in the UK – current status: Graeme Black |
10:50 |
Genetic testing in Belgium: Bart Leroy |
11:10-11:30 | Tea |
11:30 |
Genetic testing NGS current status: Andrea Nemeth, Simon Ramsden |
12:10 | X-linked Retinitis Pigmentosa – update: Alison Hardcastle |
12:30-13:30 | Lunch |
13:30 | Developmental gene testing update: David Robinson |
13:50 | Interesting Cases: Contributions from attendees |
15:20 | Future interventions therapies: Jim Bainbridge |
15:45-16:00 | Summary/AOB: Susan Downes |
2009 – Birmingham – City Hospital
Post Graduate Centre
City Hospital
Dudley Road
Birmingham
B18 7QH
09:30-10:00 |
Registration and Coffee |
10:00-10:15 |
Introduction |
10:15-11:15 |
Session One: Retinoblastoma – the Birmingham Experience –John Ainsworth, Consultant Paediatric Ophthalmologist and Dr Trevor Cole, Consultant Geneticist |
11:15-11:45 | Coffee |
Session Two |
Cases from the Floor – to include Best Trainee Prize |
13:00-13:45 |
Lunch |
Session Three |
The Use of Autozygosity Mapping in the Identification of Rare Autosomal Recessive Conditions |
13:45-14:00 |
Nonsense Mutation in TMEM126A causing Autosomal Recessive Optic Neuropathy and Auditory Neuropathy – Professor Eamonn Maher, Professor of Medical Genetics, Birmingham |
14:00-14:15 |
A New Bardet-Biedl Syndrome Locus – Dr Geoff Woods, Consultant Geneticist, Cambridge |
14:15-14:30 |
Homozygosity Mapping used to Identify Genes for Microphthalmia and Anophthalmia: FOXE3… – Miss Nicky Ragge, Honorary Consultant in Paediatric Ophthalmology, Birmingham |
14:30-14:45 |
Mutations in the Putative Mg2+ Transporter CNNM4 Cause Amelogenesis Imperfecta and Cone-Rod Dystrophy – Professor Chris Ingelhearn, Professor of Molecular Ophthalmology, University of Leeds |
14:45-15:05 |
Presentation of Trainee Prize followed by Tea |
Session Four |
The Eye in Complex Disorders |
15:05-15:25 |
Von Hippel Lindau Disease – Professor Eamonn Maher |
15:25-15:45 |
Optic Tumours in the Neurofibromatosis – Tim Matthews, Consultant Ophthalmologist, Birmingham |
15:45-16:05 |
The Contribution of the Clinical Scientist to the Diagnosis and Assessment of Genetic Eye Disease – Dr Peter Good, Consultant Clinical Scientist, Birmingham |
16:05 |
Summary and Future Plans |
16:15 |
aClose of Meeting |
2008 – Cardiff
Cardiff
09:00 |
Registration |
Welcome – Marcela Votruba and Patrick Watts | |
Retinoblastoma – Chair: Patrick Watts | |
09:30 |
Genetic Testing and Management of Retinoblastoma – Professor Graham Black and Professor Anna O’Grady, Manchester |
10:00 |
Genetic Testing and Ophthalmic Screening for Retinoblastoma – case discussions – Dr Helen Stewart, Oxford |
10:30-11:00 | Coffee and Networking |
Genetic Studies – Chair: Tony Moore | |
11:00 |
The Epidemiology of Childhood Onset Hereditary Retinal Disorders – Dr Esther Hamblion, MEH/IOO/ICH |
11:20 |
Leber Congenital Amaurosis – Phenotype-Genotype Correlation –Dr Martin McKibbin, Leeds |
11:40 |
Update on AMD Genetics – Professor Andrew Lotery, Southampton |
12:00 |
Genetic Profiling in Angiogenic Eye Disease – Dr Amanda Churchill, Bristol |
12:30-13:30 | Lunch |
Genetic Therapy and Testing Update – Chair: Marcela Votruba | |
13:30 |
The Influence of Microglia on Retinal Progenitor Cell Turnover and Cell Replacement – Professor Andrew Dick, Bristol |
14:00 |
Prospects for Therapy for Childhood Retinal Dystrophies –Professor Tony Moore, UCL |
14:30 |
Developing a new NHS Genetic Test: OPA 1 and Inherited Optic Neuropathy – Dr Rachel Butler |
15:00-15:20 | Tea and Networking |
Cases from the Floor – Chair: Patrick Watts and Marcela Votruba | |
15:20 |
Clinical Cases from the Floor |
16:00 |
Summary and Future Plans – Dr Marcela Votruba |
16:15 |
Close of Meeting |
2006 – Manchester – NOWGEN Centre
NOWGEN Centre
Manchester
09:15 |
Registration and Coffee |
Session One |
Novel Treatments for Retinal Disease |
10:00-10:30 |
Update of Gene Therapy Modalities – the RPE65 Trial – Tony Moore, UCL |
10:30-11:00 |
Stem Cells in the Treatment of Retinal Dystrophies – Robert McLaren, UCL |
11:00-11:30 |
Opticin: a Vitreous-Derived Anti-Angiogenic? – Paul Bishop, Manchester |
11:30-12:30 |
Session Two: Unusual Cases from the Floor |
12:30-13:45 |
Lunch |
Session Three |
Update on Genetic Testing and Provision of Genetic Services |
13:45-14:05 |
What the UK GTN can offer Ophthalmology – Jo Whittaker,Cambridge |
14:05-14:20 |
Update on Genetics of AMD – Andrew Webster, UCL |
14:20-14:40 |
Should there be Genetic Testing for AMD? Discussion to be led by Alan Wright, Edinburgh |
14:40-15:30 |
Update of Genetic Testing(i) XLRP/ADRP – Niki Hart-Holden, Manchester, James O’Sullivan, Manchester (ii) Open Discussion: Who Should Pay for Genetic Testing? – to be chaired by Susie Downes |
2005 – London – Institute of Child Health
Institute of Child Health
London
09:30 | Registration/Coffee £40 (please bring cash or cheque – no credit cards) |
10:00 | Opening Remarks – Susie/Andrew |
10:05 | X-linked retinoschisis (XLRS) in the clinic – the impact of genetic testing – Professor Dorothy Trump |
10:30 | XLRS genetic testing – Dr Jo Whittaker, Cambridge |
11:00-11:15 | Coffee |
11:15 | The MRC gene service and whole genome amplication – Dr Cheng Eng Ang |
11:50 | The Illumina platform and the advent of full genome association scans – Sandy McBean |
12:30-13:30 | Lunch |
13:30 | The UK-GTN history, philosophy and future – Professor Peter Farndon, Birmingham |
14:15 | An ‘Eye-Genetic Strategy Document’ – Helen Stewart, Oxford |
14:30 | Progress in laboratory testing for XLRP and Sorsby. Future service developments in RP – Simon Ramsden, Jacqueline Rice and Nicki Hart-Holden, Manchester |
15:00-15:15 | Tea |
15:15 |
Consultation cases and discussion issues – members of EGG. Approximately 10 minutes each:
|
16:45 | Summary and Close |
Proposed date and venue for next meeting: |
2003 – Oxford – St Catherine’s College
St Catherine’s College
Oxford
09:30 | Registration/Coffee |
10:00 | Welcome – Chairman, Alan Bird |
10:10 | Genetic Knowledge Parks – Jenny Taylor |
10:40 | Gene Testing Update from Manchester/Wessex labs – Rob Ellis/Graeme Black, Oxford and other Centres re gene testing (UKGTN) |
11:30-11:45 | Coffee |
11:45 |
Update re website UKEGG – Susie Downes/Andrew Webster Constitution of UKEGG – Helen Stewart |
12:10 | White paper GENCAG/UKGTN – Anneke Seller/Rob Ellis |
12:30-13:30 | Lunch |
13:30 | Future therapeutics/intervention strategies in inherited retinal degenerations – Andrew Webster |
14:00 | Genetic testing in childhood – Denise Williams |
14:30 | Legal aspects in genetic testing – Charles Foster |
15:00-15:30 | Tea |
15:30 | Consultation Cases |
16:15 | Summary and Close |
UK-EGG
16 years of support for ophthalmic clinicians and clinical geneticists