UK-EGG

“A place to share knowledge on inherited eye disease and train the next generation of clinicians and scientists.”

Previous Meetings

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 will also be available shortly.

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:

Meeting Screencasts

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.

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.

Professor Andrew Lotery

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.

photo.jpg

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

The EyeTN Final Conference

Montpellier, France – 22-23 June 2016

EyeTN Montpellier Programme

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: 

  • Alan Fryer 
  • Prof. Jill Clayton-Smith 
  • Amanda Churchill:- 
    • “Unusual Ushers”  
    • “Retinal Dystrophy and the 105 Retinal Gene Panel” 
  • Dr Gavin Arno:-
    • “A series of exome sequencing mutations identified in syndromic genes in apparently non-syndromic retinal dystrophy cases”
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:

  • Alan Fryer
  • Prof. Jill Clayton-Smith
  • Amanda Churchill:-
    • “Unusual Ushers”
    • “Retinal Dystrophy and the 105 Retinal Gene Panel”
  • Dr Gavin Arno:-
    • “A series of exome sequencing mutations identified in syndromic genes in apparently non-syndromic retinal dystrophy cases”
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:
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

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:

  • Jo Allard, Oxford – Dept of Health initiative for genetic counselling; genetic testing in childhood
  • Patrick Watts, Cardiff
  • Zubin Saihan, London – The National Collaborative Usher Study – purpose and progress
  • David Robinson, Salisbury
  • Sharon Jenkins, London – a family with a rare form of retinal degeneration
  • Robert Henderson, London – Leber’s Congenital Amaurosis – the genotype-phenotype correlations of RPE65
  • Kevin Gregory-Evans, London – When two wrongs DO make a right
  • Cheryl Gregory-Evans, London
  • Susie Downes/Andrea Nemeth, Oxford
16:45 Summary and Close
 

Proposed date and venue for next meeting:
February 2006 in Manchester

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