From GWAS to function Image Dr Veronique Vitart Research in a Nutshell The overarching goal of my research group is to leverage population genetic findings to understand molecular mechanisms underlying common complex diseases/conditions. A major focus is on identifying genetic variants affecting vision and understanding how they exert their effects. We are particularly interested in those increasing risks of keratoconus- a leading cause of corneal transplants- or of myopia and hyperopia, extreme forms of which are associated with severe vision impairments. We, and others, identified many candidate variants by performing genome-wide association studies (GWAS) on associated quantitative biometrical traits. We are additionally seeking disease risk variants by analysing families with severe myopia or hyperopia from the island of Lewis/Harris in Scotland and carrying-out case-control studies of retinal detachment, a blinding condition for which high myopia is a risk factor. We are conducting both computational and experimental projects to decipher the physiological roles of established associations. This line of research makes use of the latest developments in statistical genetics, the growing sources of molecular traits GWAS, biological gene-sets and functional annotations, and the establishment of cell and animal models. Image People Veronique VitartGroup LeaderCamilla DrakeResearch assistantChloe StantonInvestigator scientistXinyi JiangPhD studentContactVeronique.Vitart@ed.ac.uk Veronique Vitar - Research Information CollaborationsProfessor Wendy Bickmore, Dr Shipra Bhatia, Professor Ian JacksonDr Roly Megaw, clinical lecturer, University of EdinburghProfessor David Charteris, Dr Danny Mitry and Dr Aman Chandra, Moorfield’s Eye HospitalDr Forbes Mason, University of ManchesterDr Andrew Pyott, Raigmore Hospital, InvernessPartners and FundersMRCThe Royal College of Surgeons of EdinburghNational Eye Research CentreFight for SightScientific Themesgenetics of eye diseases, genome-wide association study,linkage, editing, gene expression analysisTechnology Expertisegenetics, genome-wide association study, linkage, editing, gene expression quantitation, exome and whole genome sequences analysis This article was published on 2024-09-23