Institute welcomes UK Eye Genetics Group annual conference

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The conference was an opportunity for attendees from across the UK and Europe to bring each other up to speed with the latest developments in the rapidly evolving field of eye genetics research.

The programme was opened by Professor Wendy Bickmore, Director of the MRC Human Genetics Unit (MRC HGU) which was hosting the meeting.

The MRC HGU has a strong history and reputation in the investigation of genetic eye diseases – both developmental and degenerative - which has inspired the research developments by some of those in attendance.

The meeting began with a session on developmental eye disorders, including a clinical overview of genetic diagnosis, research to understand tissue fusion processes in coloboma and work to uncover the impact of disease-associated sequence variants in the non-coding genome.

The second session, From the Clinic, shifted focus onto clinical trials for Inherited Retinal Diseases. Attendees heard about the utilisation of the retina as a unique window to investigate systemic microvascular health, which could potentially allow monitoring at population health level and the delivery of inexpensive diagnostics.

A session on genomic diagnosis followed where insights and case studies into genetic counselling in the era of whole genome sequencing were shared. Delegates attended a masterclass in variant interpretation for improving genetic diagnosis of eye diseases and also heard an inspiring patient perspective from Paralympic athlete Libby Clegg MBE, hosted by MRC HGU’s Dr Roly Megaw. Libby shared moving accounts of her Stargardt's Macular Dystrophy diagnosis and what it’s like to be a member of a family with an inherited eye condition.

Fay Newton from the Roly Megaw and Pleasantine Mill Research Groups won best poster prize for her presentation on 'Mechanisms of Photoreceptor Degeneration in an Rpgr Mutant Model of Retinitis pigmentosa'.

Xinyi Jiang from the Veronique Vitart Research Group was highly commended for her poster 'Exploiting pleiotropy of genetic associations to identify plausible causal Keratoconus genes'.

Mihaly Badonyi from the Joe Marsh Research Group was highly commended for his oral research presentation, 'Protein complex structural data enables phenotype-level prediction of missense variants in PRPH2'. The prize for best talk was awarded to Thomas Julian from the University of Manchester.

The meeting closed with a keynote speech from Professor Elfride De Baere who leads the Ophthalmic and Developmental Genetics Lab at Ghent University and Ghent University Hospital in Belgium. Professor De Baere’s fascinating presentation described studies to elucidate disease-relevant differential cis-regulatory interactions in the 3D genome, including thoughtful connections to talks earlier in the programme.

It was fantastic to welcome clinicians and scientists to the 2023 UK-EGG annual meeting at the MRC Human Genetics Unit. What a great opportunity to share exciting developments in the field as we seek to identify causes, understand the mechanisms and find treatments for genetic eye disease.

Chloe Stanton, Conference Organising Committee

Organising Committee:

• Wendy Bickmore

• Chloe Stanton

• Roly Megaw

• Anne Lampe

• Veronique Vitart

• Joe Rainger

• Bal Dhillon

The conference was sponsored by BluePrint Genetics and Novartis.

Related links

• UK Eye Genetics Group (UK-EGG) website