Event Details
Date: 9 June 2023

Location name: Edinburgh , UK

Location address: MRC Human Genetics Unit, Western General Hospital, Crewe Road South, Edinburgh

Contact: Chloe Stanton

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Chloe M. Stanton, UK-EGG Treasurer, MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh

Delegates including ophthalmic clinicians, clinical geneticists, genetic counsellors and research scientists travelled to Edinburgh from across the UK and Europe to attend the UK Eye Genetics Group (UK-EGG) annual conference. This meeting was a fantastic opportunity to catch up with the latest developments in eye genetics and with others with a shared interest in the genetics of eye disease.

Reflecting the diverse membership of UK-EGG, speakers highlighted a wide range of research in ophthalmic genetics. Starting with an exciting session on developmental eye disorders, Dr Nikki Hall provided a clinical overview focused on diagnosis and genetics. This was followed by two research talks: Dr Joe Rainger describing work to understand tissue fusion processes in coloboma using chicks as a model system; and Dr Shipra Bhatia highlighting in vivo and ex vivo models to uncover the impact of disease-associated sequence variants in the non-coding genome.

Shifting focus, Dr David Gilmour from Glasgow gave us a local PI’s perspective on clinical trials for the IRDs and we heard from Dr Miguel Bernabeu about utilising the retina as a unique window to investigate systemic microvascular health. This could allow monitoring of population health and delivery of inexpensive diagnostics – look out for more from the Scottish Collaborative Optometry-Ophthalmology Network e-research (SCONe)!


Attendees at the UK-EGG annual conference at the Institute of Genetics and Cancer, University of Edinburgh.

In a Genomic Diagnosis session, Samantha Malka shared insights and case studies on genetic counselling in the era of whole genome sequencing. Dr Jamie Ellingford gave a masterclass in variant interpretation for improving genetic diagnosis of eye diseases. Dr Roly Megaw hosted a patient perspective by inspirational paralympic athlete, Libby Clegg MBE. These talks stimulated plenty of discussion, as did excellent poster sessions, early career researcher talks and clinical case studies.

The meeting closed with keynote speaker Prof Elfride de Baere describing elegant studies to elucidate disease-relevant differential cis-regulatory interactions in the 3D genome, including thoughtful connections to talks earlier in the programme. At the drinks reception, the poster prize was awarded to Fay Newton from University of Edinburgh (Mechanisms of Photoreceptor Degeneration in an Rpgr Mutant Model of Retinitis pigmentosa). Best oral research presentation was won by Thomas Julian from the University of Manchester (Phenome-wide Mendelian randomisation analysis provides causal insights into glaucoma and age-related macular degeneration).

Special thanks to the speakers, our host at the Institute of Genetics and Cancer, Prof Wendy Bickmore, sponsors BluePrint Genetics and Novartis for their support and to the UK-EGG team for organising a fantastic annual meeting in Edinburgh. Don’t miss next year’s meeting in Liverpool!