People involved in L-ORD Professor Alan Wright (Edinburgh) Image Professor Wright’s interests are the genetics of biomedically relevant quantitative traits (QTs). He primarily studies isolated populations because of the reduced genetic and environmental diversity within them. He has been carrying out genome-wide association scans in samples from some 2,000 people to date, after measuring >300 different QTs in each individual. Professor Wright also has a long-standing interest in the genetics of retinal disorders, including retinitis pigmentosa and age-related macular degeneration. Professor Caroline Hayward (Edinburgh) Image Caroline is Principal Investigator and co-ordinator of the QTL in Health and Disease research programme. Over the last 10 years she has been responsible for managing many aspects of the collection and analysis of quantitative trait data from isolated and general Croatian populations. More recently this project has expanded to include analyses of further Croatian and Scottish populations. Her main interests are in the genetics of quantitative traits in human populations especially those likely to be involved in clinically significant complex diseases. Professor Baljean Dhillon (Edinburgh) Image I am Professor of Clinical Ophthalmology, University of Edinburgh and hon. Consultant Ophthalmologist, NHS Lothian at Princess Alexandra Eye Pavilion in Edinburgh. I have been a Consultant Ophthalmologist since 1991 after training posts in Birmingham, Plymouth, London, Edinburgh and Singapore. I have worked with Professor Alan Wright for many years running the retina-genetics clinic at the eye hospital where we have seen many patients with L-ORD and carried out joint research with Caroline, Chloe and Shyamanga exploring the genetics, mechanisms, natural history and new approaches to treating L-ORD and other diseases affecting the macula/retina. I am also Programme Director for the Masters post-graduate courses in ophthalmology and lead the eye research lab at the University of Edinburgh with a focus on repair and regeneration. Dr Shyamanga Borooah (California) Image Dr Shyamanga Borooah was a Rowling Scholar from 2011 to 2016. He is a clinician-scientist specialising in diseases of the retina. Shyamanga's initial medical training was at Imperial College, London followed by a residency in ophthalmology in Edinburgh and a further retinal fellowship at Moorfields Eye Hospital, London. He completed a Wellcome Trust-sponsored PhD entitled ‘Developing a patient-derived induced pluripotent stem cell model to understand the clinical and pathological changes in macular degeneration’ supervised by Professors Siddharthan Chandran and Baljean Dhillon at the MRC Centre for Regenerative Medicine, University of Edinburgh. The findings from Shyamanga's PhD led to the award of a Fulbright post-doctoral scholarship which aimed to translate the important laboratory findings in order to develop novel treatments for patients with macular degeneration. He has recently been appointed as an Assistant Clinical Professor in the Department of Ophthalmology at the University of California San Diego, where he has been an awarded a Foundation Fighting Blindness Career Development Award to further his translational research. Dr Chloe Stanton (Edinburgh) Image Dr Chloe Stanton received her BSc degree in Biochemistry from the University of Leeds. Following time spent working as a research technician in a human genetics lab (Mayo Clinic, Florida) and a molecular biology lab (University of California San Diego, California), she moved to Edinburgh to start her PhD with Professor Alan Wright studying the genetic and molecular mechanisms of age-related macular degeneration (AMD). She is now an Investigator Scientist in the Molecular Genetics of Vision-related traits research group at the MRC Human Genetics Unit, University of Edinburgh. Dr Roly Megaw (Edinburgh) Image Roly Megaw is a Wellcome Trust-funded clinical lecturer at the University of Edinburgh and a consultant ophthalmologist in NHS Lothian, where he combines his clinical and research interests to try to improve our management of patients with genetic eye disease. Roly runs the Lothian Retinal Genetics service and is a principal investigator for several clinical trials that are assessing the effect of new therapies for genetic eye disease, including gene therapy and exon skipping therapy. He also undertakes cataract surgery in Edinburgh. Roly’s research aims are: - to better understand the mode of action of genes that are crucial for retinal health. Mutations in these genes cause genetic eye disease - to better understand how the light sensing cells in the retina die in genetic eye disease and to determine how we can stop it - to better understand the natural history of genetic eye diseases so as to identify the optimum treatment windows as novel treatments emerge Through these areas of research, it is hoped novel treatment options will be identified. Dr Randa Li (Edinburgh) Image Dr Randa Li graduated from Edinburgh Medical School and was a houseman at the Royal Infirmary of Edinburgh. She received her full specialist training and registration in Ophthalmology in Hong Kong. She pursued a master degree in Public Health at the Chinese University of Hong Kong and she was the first graduating class of the new Master of Surgery in Clinical Ophthalmology online programme run by The University of Edinburgh. Her main interests are strabismus & paediatric ophthalmology, preventive medicine, ophthalmic research and genomic ophthalmology. She is currently back at her alma mater to help coordinate the multi-centre LORD project hoping to bridge the gap between the laboratory scientists and clinical ophthalmologists. Dr Li believes she and her LORD teammates can bring hope and light to LORD patients and make a difference in their lives. Contact ophthalmology@ed.ac.uk This article was published on 2024-08-22
