CDHR1-associated retinal degeneration results in blindness, affecting >200,000 people worldwide. We show that gene therapy can restore vision in a model of this disease. Here are the key messages: 🧵 MacLaren Research Group Oxford Nuffield Department of Clinical Neurosciences Beacon Therapeutics Medical Research Council St Cross College Molecular Therapy

Fantastic first day at the Oxford congress: multi-faceted talks in retinal disease, space medicine, challenges in glaucoma and a lively poster session. Looking forward to day 2. #OOC2024

#OOC2024 CDHR-1 associated retinal degeneration at rapid fire, prevalence worldwide surprising … a masquerade for Geographic atrophy! Targeted treatment next steps Translational Research Office-University of Oxford

#OOC2024 gene therapy associated inflammation both in ipsilateral & contralateral eye. Meta analysis of 67 trials #poster 26. The reality is that some require long term second line immunosuppression. ?affect the outcome of treatment in the longer term Translational Research Office-University of Oxford OOC

Our Doyne Lecturer for 2024 is Professor Robert MacLaren, sharing his career’s work on gene therapies #OOC2024

Prof Robert MacLaren giving the 107th Doyne lecture at the OOC today. ⁦OOC⁩ ⁦University of Oxford⁩ #retinalgenetherapy

RPGR: it’s importance and challenge that it represents in gene therapy in X-linked retinitis pigmentosa, ⁦OOC⁩ ⁦University of Oxford⁩

OOC Master Dr James Talks awarding Prof Robert MacLaren the Doyne medal after his excellent lecture. ⁦OOC⁩ Interesting curious beautiful things from the web

Our afternoon genetics session focuses on personalised medicine. David Bick explains the role of newborn rare disease screening in this endeavour. #OOC2024

How do we find the 9 children born each day in the UK with a rare treatable disease?

#ooc2024 newborn screening in U.K. 1/190 have a treatable genetic condition..roughly 9 a day. The generation study enrolling now! Iconseq.org Genomics England David P Bick, MD OOC

Evelyn Mensah presents the pros and cons of the Generation Study - early treatment and better outcomes to be balanced against costs, consent, privacy and health inequity. #OOC2024

Our final session this afternoon offers us the opportunity to think wider: opening with Pearse Keane and Advances in Artificial Intelligence #OOC2024

Prof Susie Mollan takes us up into space and down to Antarctica to share the influence of extreme environments on ICP #OOC2024

Our Gala Dinner at Hertford College. #OOC2024

I am working with CureCHM to host a #Choroideremia Patient Day in London on Sat 12th Oct 2024. For any #CHM families, please do come along, you can register here 👉🏼 curechm.salsalabs.org/internationalp…

An energetic blast through management of angle closure glaucoma with Leon Au #OOC2024

Next in our Emergency Ophthalmology Session, corneal acute cases with Ankur Barua. #OOC2024

Prof Mollan guides us through clinical pearls to help differentiate and manage patients with disc swelling #OOC2024