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2018 UK-EGG Meeting Programme
You can now download the 2018 UK-EGG Meeting Programme HERE
2018 Free Paper and Poster Abstracts
You can now preview the Free Paper and Poster Abstracts
Register now for the UK-EGG 2018 Meeting
Birmingham Children’s Hospital – Thursday, 1st November, 2018 – 9.00am to 5.30pm
Book places for the UK-EGG 2018 Meeting via our Eventbrite page: REGISTER NOW
The UK EYE Genetics Group (UK-EGG) 2018 Meeting
Birmingham Children’s Hospital – Thursday, 1st November, 2018 – 9.00am to 5.30pm
The annual meeting of UK-EGG is a fantastic opportunity to network with research active colleagues in a variety of roles from all fields of genetic eye research.
The meeting will be of particular interest to vision scientists, ophthalmic and genetic clinicians/nurses and genetic counsellors. There will be a programme of lectures, a free paper session, keynote speech and of course networking and refreshments throughout the day.
This year’s programme of lectures will cover, amongst other areas:
- Recent findings and treatments in VHL patients
- Inherited optic neuropathies and LHON gene therapy
- Ciliopathies
- MAC syndrome
- Retinoblastoma
This year’s keynote speaker is Professor Robert MacLaren (University of Oxford, Oxford Eye Reseach Group, Nuffield Department of Clinical Neurosciences)
For further information, please contact the local organiser, Dr Denise Williams via denise.williams@bwnft.nhs.uk
The 2018 Meeting Programme will be available shortly
Download Links UK-EGG Birmingham 2018 Leaflet
Day 1 – Thursday, September 14, 2017
GENETIC TESTING (DIAGNOSTICS AND LABORATORY TESTING, ACCESS TO GENETIC TESTING IN EUROPE V USA).
PHENOTYPING, PENETRANCE AND EXPRESSION SYMPOSIUM
Friday, September 15, 2017 ISGEDR meeting
Leads – Martin McKibbin / Birgit Lorenz
OPHTHALMIC GENETICS FREE PAPERS –
(7x10 minutes including questions)
Moderators – Nicola Ragge / Michael Gorin
FRANCESCHETTI LECTURE – Professor David Mackey
“Eye Genetics at the Fork in the Road”
Introduction – Elias I. Traboulsi
Award – Birgit Lorenz
RETINOBLASTOMA: FROM DETECTION AND COMMUNICATION TO RETINOBLASTOMA FOR LIFE
Lead – Ashwin Reddy
OPHTHALMIC GENETICS FREE PAPERS
(9x10 minutes incl. questions)
Moderators – Chris Inglehearn / Alex Levin
RETINOBLASTOMA FREE PAPERS
(9x10 minutes incl. questions)
Moderators – John Ainsworth, Manoj Parulekar and Mandeep Sagoo
OPHTHALMIC GENETICS FREE PAPERS
Saturday, September 16, 2017 ISGEDR meeting
(6* 10 minutes incl. questions)
Moderators – Frans Cremers and Amanda Churchill
FRANÇOIS LECTURE – Professor Andreas Gal
“From Congenital Stationary Night Blindness to Inherited Retinal Dystrophy:
A Journey of 30 Years Discovering the Secrets of the Emerging Human Genome”
Introduction – Bart Leroy
Award – Birgit Lorenz
OPHTHALMIC GENETICS FREE PAPERS
(6x10 minutes incl. questions)
Moderators = Brian Brooks and Elias Traboulsi
OPHTHALMIC GENETICS FREE PAPERS
(5x10 minutes incl. questions)
Moderators – Birgit Lorenz/Arif Khan
CLINICAL TRIALS, EMERGING NEW TREATMENTS AND THE ROLE OF PHARMA.
Leads – Bart Leroy and Alun Barnard
TIME TO GO HOME…
UK-EGG Team

Amanda Churchill (Chair)
Amanda Churchill (Chair) is a Consultant Paediatric Ophthalmologist with a special interest in Genetics and honorary Clinical Lecturer at the University of Bristol. During her training in Yorkshire, she undertook a PhD in the Department of Molecular Medicine at the University of Leeds studying the genetics of developmental eye disease including anterior segment dysgeneses and dominant optic atrophy. She spent a six month molecular genetics Fellowship with Professor Ed Stone in Iowa before moving to the University of Bristol in 2001. Her continued research on inherited eye disease led to the development of an NHS-funded genetic test for anterior segment dysgenesis. Moving away from simple Mendelian to complex genetics diseases, Amanda has devoted the last ten years to investigating the VEGF gene in angiogenic eye diseases. She has published a DNA profile associated with both age-related macular degeneration and proliferative diabetic retinopathy. Funding has included the The Wellcome Trust, Diabetes UK and the British Heart Foundation. Her current research is focussed on personalised medicine and using genetic profiling as a predictor of how an individual may respond to treatment. In addition to her research interests, she leads the Paediatric Ophthalmology unit at Bristol Eye Hospital and runs a monthly Genetic Eye Clinic. Amanda has previously been Treasurer of UKEGG for the last 4 years.

Georgina Hall (Treasurer)
Georgina Hall (Treasurer) is a Consultant Genetic Counsellor in the Manchester Centre for Genomic Medicine in the UK. Having gained her degree in Genetics at Cambridge University, she went on to graduate from the Master’s degree in Genetic Counselling in Manchester in 1992. Georgina has worked across many different areas of clinical Genetics, but specialises in ophthalmic genetics. She has been working in the multidisciplinary genetic eye clinics in Manchester for twentyyears involving clinical geneticists, ophthalmologists, genetic counsellors and eye clinic liaison officers. Georgina’s research interests include developing services for patients and families with inherited eye disease. Her programme of research, funded by a patient Charity, Fight for Sight, has explored the needs of patient with retinal dystrophy, measuring experiences and value of genetic testing for retinal dystrophy and development methods to evaluate services. She is also interested in communication with families, developing communication aides for patients with visual impairment, leaflets and information for patients to support family communication and decision making.

Stuart Ingram (Secretary)
Stuart Ingram (Secretary) is a Research Project Manager at Manchester Centre for Genomic Medicine, and manages several interconnected research projects in the field of inherited eye disease including observational, therapeutic, academic and commercial streams. He is also works on grant applications, research governance, patient involvement and experience, and coordinates multi-disciplinary team meetings. He is currently studying for an MSc in Genomic Medicine at the University of Manchester and would like to follow this with a PhD studying and developing new approaches to research consent in visually impaired patients in the NHS clinical setting. Stuart acts as secretary to UK EGG and provides administrative support to other committee & executive members.
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UK-EGG
The UK Eye Genetics Group was set up in 2002 for ophthalmic clinicians and clinical geneticists with a specialist interest and expertise in ophthalmic genetics, to keep up to date in the field of clinical ophthalmic genetics which is a rapidly evolving specialty.
UK-EGG
16 years of support for ophthalmic clinicians and clinical geneticists
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UK-EGG Team

Amanda Churchill (Chair)
Amanda Churchill (Chair) is a Consultant Paediatric Ophthalmologist with a special interest in Genetics and honorary Clinical Lecturer at the University of Bristol. During her training in Yorkshire, she undertook a PhD in the Department of Molecular Medicine at the University of Leeds studying the genetics of developmental eye disease including anterior segment dysgeneses and dominant optic atrophy. She spent a six month molecular genetics Fellowship with Professor Ed Stone in Iowa before moving to the University of Bristol in 2001. Her continued research on inherited eye disease led to the development of an NHS-funded genetic test for anterior segment dysgenesis. Moving away from simple Mendelian to complex genetics diseases, Amanda has devoted the last ten years to investigating the VEGF gene in angiogenic eye diseases. She has published a DNA profile associated with both age-related macular degeneration and proliferative diabetic retinopathy. Funding has included the The Wellcome Trust, Diabetes UK and the British Heart Foundation. Her current research is focussed on personalised medicine and using genetic profiling as a predictor of how an individual may respond to treatment. In addition to her research interests, she leads the Paediatric Ophthalmology unit at Bristol Eye Hospital and runs a monthly Genetic Eye Clinic. Amanda has previously been Treasurer of UKEGG for the last 4 years.

Georgina Hall (Treasurer)
Georgina Hall (Treasurer) is a Consultant Genetic Counsellor in the Manchester Centre for Genomic Medicine in the UK. Having gained her degree in Genetics at Cambridge University, she went on to graduate from the Master’s degree in Genetic Counselling in Manchester in 1992. Georgina has worked across many different areas of clinical Genetics, but specialises in ophthalmic genetics. She has been working in the multidisciplinary genetic eye clinics in Manchester for twentyyears involving clinical geneticists, ophthalmologists, genetic counsellors and eye clinic liaison officers. Georgina’s research interests include developing services for patients and families with inherited eye disease. Her programme of research, funded by a patient Charity, Fight for Sight, has explored the needs of patient with retinal dystrophy, measuring experiences and value of genetic testing for retinal dystrophy and development methods to evaluate services. She is also interested in communication with families, developing communication aides for patients with visual impairment, leaflets and information for patients to support family communication and decision making.

Stuart Ingram (Secretary)
Stuart Ingram (Secretary) is a Research Project Manager at Manchester Centre for Genomic Medicine, and manages several interconnected research projects in the field of inherited eye disease including observational, therapeutic, academic and commercial streams. He is also works on grant applications, research governance, patient involvement and experience, and coordinates multi-disciplinary team meetings. He is currently studying for an MSc in Genomic Medicine at the University of Manchester and would like to follow this with a PhD studying and developing new approaches to research consent in visually impaired patients in the NHS clinical setting. Stuart acts as secretary to UK EGG and provides administrative support to other committee & executive members.
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