15 August, 2024
Hot Off The Press
A few snippets for you this month to keep you excited for the future:
Artificial intelligence can now diagnose eye disease
It’s not entirely trustworthy at the moment, but artificial intelligence is advancing so rapidly that it is now comparable to ophthalmologists in the diagnosis of eye conditions. The latest version of chatGPT (GPT-4) performed the best of the AI bunch. It was quite remarkably good, and future versions are only likely to improve. The expert ophthalmologists were still slightly more accurate, but I suspect it won’t be long before they are overtaken.
EDIT-101 improving sight in Lebers
As we know, children with Lebers congenital amaurosis go partially or completely blind by the age of 10 years old. The centrosomal protein 290 (CEP290) is deficient, and lack of it disrupts normal ciliary action on photoreceptors. It lends itself to gene therapy, as one faulty gene is associated with three quarters of those people affected.
A recent efficacy and safety clinical trial injected the new “EDIT-101” and used CRISPR-Cas9 gene editing to replace the common IVS26 faulty variant.
There were 12 adults and two children in the trial, and afterwards 6 of them had improved vision-related quality of life scores; 4 of these were able to navigate better, and 2 of them still had improved vision over 2 years later. Happily, there were no serious adverse events. Exciting news all around, so we will look forward with anticipation to a phase 3 trial.
Who knows what will pop up next? It’s all happening!
Cathy
Guest writer – Dr Catherine Civil
My name is Dr Catherine Civil. I have been associated with Retina Australia since the early 2000s. At that time, they were called WARPF, or the WA Retinitis Pigmentosa Foundation. WARPF were raffling a car in a shopping centre, and it caught my eye because my dad and my uncle both had Retinitis Pigmentosa. Being a doctor and a parent, I had a particular interest and awareness, not just of the disease, but of the fact that there was a significant risk that I or my children or my relatives might have inherited it.
I turned up at an AGM and found myself on the Board and engaged in fundraising. I spent several years on the Board and met some wonderful people, and I was even Chairman for a couple of years. When I left, I started writing the “Hot off the Press” research update column for the newsletter.
I arrived from the UK in the early 1990s with my husband and twin baby girls to live in Perth for a year for a bit of sunshine and fun, and we find ourselves still having fun in WA 30 years later, and with a grown son as well.
