by Mohammed Aslam, FY 3 Doctor, Calderdale and Huddersfield NHS Foundation Trust, UK.
Founded in 2002, the UK EGG provides a hub to share knowledge on inherited eye disease and train the next generation of clinicians and scientists. This year’s annual meeting took place at the award-winning Spine building which sits in the heart of Liverpool’s knowledge quarter.
The day was kickstarted with talks on advances in ocular genetics, including an informative update from Consultant Histopathologist Sarah Coupland on the ocular melanoma genetics and their clinical relevance. The highlight of this session involved a presentation delivered by group leader at the UCL Institute of Ophthalmology, Nikolas Pontikos. The socioeconomic burden of late diagnosis for inherited retinal diseases (IRD) is a well-known issue, therefore alongside his team Pontikos is creating Eye2Gene. This AI software can help doctors better diagnose patients with IRD. The team used data from 130 IRD cases and found Eye2Gene provided a rank for the correct gene higher or equal to the human phenotype ontology (HPO)-only score in over 70% of cases.
The next session involved talks from early researchers with regards to their exciting projects. Cecile Mejecase achieved the award for the best oral presentation with her talk on retinal organoid models revealing dysfunctions of vitamin A metabolism in RDH12-retinopathies.
It was a pleasure to be amongst the audience when listening to keynote speaker and Consultant Gynaecologist Meenakshi Choudhary. The presentation gave many exciting insights into mitochondrial DNA disease prevention, highlighting newer technologies such as ‘Pronuclear Transfer’. Engaged listeners were eager to get involved with Q&A time at the end. It’s useful to note that maternally inherited mitochondrial DNA mutations can also cause optic neuropathies.
After lunch we had the privilege of listening to well-known professional actors Laura Norton and her partner Mark Jordon, best known for his TV roles in Heartbeat and Emmerdale. They told the story of how their two young children were diagnosed with Usher syndrome, a rare genetic disease that can cause significant hearing and visual issues. It was both sad and frustrating to hear the lack of support that was available to them, and how this led to such a negative experience. They now spend much of their time raising awareness of the condition and endeavour to raise funds for research to find a cure.
A later talk by Consultant Obstetrician Meekai To highlighted ‘The Generation Study’, which will sequence the genomes of 100,000 newborn babies. Amongst the genetic conditions tested for is RPE65 associated Leber congenital amaurosis and early onset severe retinal dystrophy.
The day was concluded after some engaging ocular genetics related case presentations and finally a talk on developing a short activating RNA therapy for aniridia.
