Molecular and cellular mechanisms of Inherited Retinal Dystrophies. Dr Roly Megaw Clinical Lecturer and Honorary Consultant Ophthalmologist Contact details Email: roly.megaw@ed.ac.uk Research in a NutshellOur work focuses on understanding the mechanisms that lead to sight loss in the inherited retinal dystrophies (IRDs). IRDs are a group of untreatable, blinding conditions caused by mutations (mis-spellings) in genes that are critical for the health of the light sensing photoreceptor cells at the back of our eyes. Mutations in these genes cause the photoreceptor cells to misfunction and then die and are the leading cause of sight loss in children and adults of working age. We run research projects that span from the bench to the bedside that aim to answer the following questions:How is a photoreceptor built and maintained and how does this go wrong in IRDs?Do cell pathway defects develop that are common to all IRDs, regardless of the gene involved, that could be targeted for therapy?Can we improve the detection rate of mutations in IRD patients?Can gene specific therapies successfully stop sight loss in IRD patients?By studying the genes responsible for IRDs in the lab, using state-of-the-art imaging and big data experiments, we can gain valuable insight into how and why photoreceptors misfunction and die, with the long term goal of identifying treatments for these devastating diseases. People NameRole Roly MegawClinical Lecturer and Honorary Consultant OphthalmologistFay NewtonSenior research assistantLinda NguyenMRC Precision Medicine PhD candidateChloe BrothertonMacular Society / Retina UK PhD candidateLisa McKieSenior research technician Key Publications Roly Megaw Research Explorer Profile Collaborations Professor Pleasantine Mill, The University of EdinburghProfessor Alex von Kriegsheim, University of EdinburghProfessor Yanick Crow, University of EdinburghDr Chloe Stanton, University of EdinburghProfessor Ian Ganley, University of DundeeProfessor Mike Murphy, University of CambridgeProfessor Alecia Gross, University of AlabamaProfessor Patricia Boya, University of Freiburg Partners and Funders Wellcome TrustRetinaUKMacular SocietyFight for SightRoyal College of Surgeons (Edinburgh) Scientific Themes Inherited retinal dystrophies, mitochondria, cell biology, clinical trials Disease Areas Inherited retinal dystrophies, macular disease Technology Expertise Mouse models (disease models, reporters); stem cell retinal organoids; imaging (confocal, electron microscopy, super-resolution); cell biology This article was published on 2025-11-14