The 12th Meeting of The UK Eye Genetics Group & the 20th Meeting of The International Society for Genetic Eye Diseases & Retinoblastoma Leeds, UK September 14-16, 2017 A Very Special Meeting Indeed The UK EGG is delighted to be co-hosting this joint international meeting with ISGEDR to share research and clinical developments in this rapidly evolving and highly dynamic field of genomics in ophthalmology. This meeting represents a unique opportunity to establish and develop working relationships and collaborations within the ophthalmic genetics community worldwide, and will present a varied and engaging programme of presentations from scientists, clinicians and researchers at the cutting edge of the field. Amongst other things, ophthalmology is emerging at the very forefront of gene therapy research worldwide, with a number of early phase trials opening this year in the UK, so this is a very exciting and unique time for those working in the field. We welcome you to Leeds and hope you enjoy your stay and the exciting scientific programme. Georgina Hall, President UK-EGG & Birgit Lorenz, President ISGEDR Scientific Program Committee Graeme Black, UKEGG Amanda Churchill, UKEGG Brenda Gallie, ISGEDR Chris Inglehearn, UKEGG Bart Leroy, ISGEDR Birgit Lorenz, ISGEDR Martin McKibbin, UKEGG Carmel Toomes, UKEGG Elias Traboulsi, ISGEDR 1 The UK Eye Genetics Group The UK Eye Genetics Group (UK EGG) was formed in 2002 for ophthalmic clinicians, geneticists and genetic counsellors with a specialist interest and expertise in ophthalmic genetics in the UK. The group now has over 100 members, hosting an annual conference and AGM each year, and provides a unique networking environment for the largest group of genetics/ophthalmology experts in the UK. The UK EGG committee was formed in 2012 to lead the UK EGG group as a professional organisation representing clinicians, scientists and researchers in the field. Further information about UK EGG and details of how to become a member is available on our website (http://ukegg.com). Our current committee: Georgina Hall (Consultant Genetic Counsellor) (Chair), Amanda Churchill (Consultant Ophthalmologist) (treasurer), Stuart Ingram (Research Trials Co-ordinator) (secretary), Graeme Black (Professor in Genetics and Ophthalmology), Penny Clouston (Clinical Scientist), Barbara Norton (Patient Representative), Andrew Webster (Professor in Ophthlamic Genetics), Marcela Votruba (Professor of Ophthalmology), Catherine Willis (Genetic Counsellor), Nicola Ragge (Professor in Ophthalmology). Co-opted website co-ordinator, Susie Downes (Professor in Ophthalmology). 2 The International Society for Genetic Eye Diseases ISGEDR Mission Statement To bring together individuals interested in the field of genetic diseases of the eye and in retinoblastoma *** To provide a forum for researchers in the field of genetic diseases of the eye to share information *** To promote international collaborations in the study of genetic diseases of the eye and in Retinoblastoma *** To disseminate scientific knowledge through international conferences and through its official publication, Ophthalmic Genetics ISGEDR Executive Committee Birgit Lorenz, Giessen, Germany, President David Mackey, Perth, Australia, Immediate Past President Elias I. Traboulsi, Cleveland, USA, Executive Vice President Brenda Gallie, Toronto, Canada, Member-at-Large – Retinoblastoma Bart Leroy, Ghent, Belgium, Member-at-Large – Genetics Alex Levin, Philadelphia, USA, Member-at-Large – Genetics Francis Munier, Lausanne, Switzerland, Member-at-Laarge – Retinoblastoma Richard Weleber, Portland, USA, Member-at-Large – Genetics 3 Welcome from the Local Organizing Committee Welcome to Leeds for the combined ISGEDR and EGG meeting, from members of the UK organising committee, and we do hope you will enjoy what promises to be a stimulating and exciting meeting. With sessions on genetic testing, phenotyping, interesting cases, interpretation of genetic tests, mitochondrial disease, therapies, free paper sessions on both ocular genetics and retinoblastoma and two poster sessions featuring work on a wide range of ophthalmic conditions, the committees of ISGEDR and EGG are proud to present to you an excellent and truly international scientific and clinical programme. The Rose Bowl, just off the Millennium square in central Leeds, provides a first class conference venue, with tea, coffee and croissants to start each day, a full lunch provided and further refreshments at regular intervals. Each day has a mix of targeted symposia, free paper sessions and posters (separate sessions on days one and two). In addition we have a social programme to which you are all warmly invited, that shows Leeds at its best while giving everyone plenty of opportunities to get to know each other better. This begins with a drinks reception in the Leeds city museum two minutes walk away on Thursday evening, followed by a Gala dinner with Ceilidh at the Royal Armouries on Friday night and closing with an evening in the historic city of York on the final day. We look forward to meeting you and welcoming you to Leeds, and we thank you all for participating in this meeting and making it a success. Dr Amanda Churchill Consultant Ophthalmologist with specialist interest in Paediatric and Genetic Ophthalmology, United Hospitals Bristol NHS Foundation Trust, Honorary Clinical Lecturer, University of Bristol Professor Chris Inglehearn Section Head, Section of Ophthalmology and Neuroscience, School of Medicine, University of Leeds Mr Martin McKibbin Consultant Ophthalmologist, Leeds Teaching Hospitals NHS Trust Honorary Clinical Associate Professor, University of Leeds Dr Carmel Toomes Associate Professor, Section of Ophthalmology and Neuroscience, School of Medicine, University of Leeds 4 The UK Eye Genetics Group and the International Society for Genetic Eye Disease & Retinoblastoma thank the following sponsors who have generously supported the 2017 Joint UK EGG and ISGEDR Meeting in Leeds, UK Novartis Prevention Genetics Spark Therapeutics Foundation Fighting Blindness Optos Santhera Bronze Sponsors Allergan Eyecare Bayer Blueprint Genetics Congenica Nightstar 5 Special Thanks Sandy Wong Administrative Assistant ISGEDR Cleveland, USA Sarah Janesz Meeting Website Administrator Cleveland, USA 6 Congratulations to the Travel Awardees Adam Ali Medical Student University College London UK Evangelia Panagiotou Resident in Ophthalmology University Department of Ophthalmology AHEPA Hospital Thessaloniki, Greece Lev Prasov Resident in Ophthalmology University of Michigan USA Raquel Sofia Silva Post-Doctoral Fellow University College London UK 7 Keynote and Named Lectures *** 2017 Inaugural UK EGG Keynote Lecture: Andrew Read, Manchester, UK “Overview of the Human Genome” Thursday – 12:00 Noon Keynote and Named Lecturers Professor Andrew Read, PhD, FRCPath, FMedSci Emeritus Professor of Human Genetics University of Manchester Manchester, UK Andrew trained at Cambridge as an organic chemist, but after postdoctoral studies in Heidelberg and Warwick (UK) he gradually transformed himself into a geneticist. He is Professor of Human Genetics (now Emeritus) at the University of Manchester, UK. He was founder chairman of the British Society of Human Genetics (now the British Society for Genetic Medicine). For the ESHG he was chair of the Scientific Programme Committee from 1999 to 2003, since when he has been Treasurer. He is co-author of the well-known textbooks Human Molecular Genetics (Strachan & Read; Garland, 5th edition in preparation 2017) and New Clinical Genetics (Read & Donnai, Scion Publishing, 3rd edition 2015). 8 .2017 Franceschetti Lecture: David Mackey, Perth, Australia “Eye Genetics at the Fork in the Road” Friday - 11:30 am Keynote and Named Lecturers PROFESSOR DAVID A MACKEY MBBS, MD, FRANZCO, FRACS, FARVO, FAHMS Managing Director, Lions Eye Institute, Perth Western Australia Professor of Ophthalmology Director, Centre for Ophthalmology & Visual Science The University of Western Australia Perth, Australia Professor David Mackey has achieved international recognition as a genetic ophthalmologist who has spent 25 years studying the genetics of eye disease with over 340 publications. Although studying many genetic and environmental factors involved in eye disease, his major works centre on the optic nerve: glaucoma, optic neuropathies and the genetics of optic nerve biometry. A University of Tasmania medical graduate, David completed his ophthalmology training at the Royal Victorian Eye and Ear Hospital in Melbourne. After an MD thesis on Leber Hereditary Optic Neuropathy at the University of Melbourne he completed fellowships at the Johns Hopkins Center for Hereditary Eye Disease in Baltimore US and Moorfields Eye Hospital in London UK. He was awarded an Alcon Research Institute Award in 2010 and holds Silver Fellowship of ARVO. He has given the Lance, Council, Gillies and Gregg Lectures in Australia and the Marshall M Parks Lecture at the AAO meeting in 2015. In 2015 he was elected to the Australian Academy of Health and Medical Sciences. He is past-President of the International Society for Genetic Eye Disease and Retinoblastoma (and was convenor for the 1996 meeting in Hobart); Regional Secretary (Australian & New Zealand) and Chair of the Membership committee of the Asia-Pacific Academy of Ophthalmology; Executive Committee member of the Glaucoma Research Society; and Chair, Scientific Advisory Committee of the Ophthalmic Research Institute of Australia. He is a member of the American Academy