MRC Integrative Epidemiology Unit (IEU) Seminar Series

Title: Major advances in the understanding of glaucoma genetics offers hope for disease prediction

Abstract: Glaucoma is the leading cause of irreversible blindness globally. Despite its gravity, the disease is frequently undiagnosed in the community. Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG) and lowering of IOP is the only proven treatment to prevent vision loss. The pathophysiology underling IOP has remained obscure and genome-wide association studies (GWAS) up till this work had identified only several loci associated with IOP.

We carried out a GWAS for IOP in 103,382 UK Biobank participants of European descent and replicated findings in the EPIC-Norfolk (n=6,595) and International Glaucoma Genetics Consortium (n=29,578) studies. We identified 112 genomic loci associated with IOP which explained 17% of the variance of IOP. Regression-based glaucoma prediction models had an area under Receiver Operating Characteristic curve of 0.76 in USA NEIGHBORHOOD study participants and 0.75 in independent glaucoma cases from UK Biobank. Genetic prediction models for glaucoma offer an opportunity to target screening and timely therapy to individuals most at risk.

Biography: Anthony Khawaja is a consultant ophthalmologist currently working in the glaucoma service at Moorfields Eye Hospital, London. He completed his medical training at the University of Cambridge and University College London and has undertaken the majority of his ophthalmic residency training at Moorfields Eye Hospital. Anthony’s research training began with a Wellcome Trust funded PhD programme at the University of Cambridge, including a Masters in Epidemiology for which he won the Nick Day Prize. He was also awarded the Berkeley Fellowship which supported a research period at Harvard Medical School. Anthony’s research interests concern the genetic and environmental epidemiology of glaucoma and learning about disease pathogenesis and optimal care pathways by probing routinely collected data. Anthony is an active member of international multidisciplinary consortia for eye diseases, including the International Glaucoma Genetics Consortium and the European Eye Epidemiology consortium. Anthony established the Young Ophthalmologists section of the European Society of Ophthalmology and is in-coming director for the European Leadership Development Programme. He was recently ranked 8th in the world of Rising Stars in ophthalmology by his peers for The Ophthalmologist publication. In his spare time, Anthony is passionate about music: he plays the piano, composes, and enjoys listening to broad range of music. His favourite record of 2017 was American Dream by LCD Soundsystem.

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