2 days ago
Hot Off The Press
Welcome back to you all and I hope you all had a delightful festive season.
I have a few more snippets for you today to get you going again, so please read on…..
How do Genetic Mutations Cause Disease?
This is a lovely concise article explaining how the different types of genetic mutations come about, and how these mutations can subsequently cause disease including IRDs.
The end of Eye injections for AMD?
RNA gene editing using CRISPR Cas13, has been shown in human retinal cells to reduce the production of Vascular Endothelial Growth Factor. This growth factor is what can lead to new fragile blood vessel growth in the retina in AMD and diabetes. When these fragile vessels bleed, the retinal cells get damaged.
If this works in human studies too, then potentially it could replace antiVEGF eye injections which would be good news to many.
Bring on the clinical trials….. !
A link between sleep apnoea and wet-AMD?
An Australian study has linked low levels of oxygen in the blood overnight – a common sign of obstructive sleep apnoea – with wet age-related macular degeneration. The low oxygen levels are thought to damage the retina.
OSA is a common condition, and often undiagnosed, so if you think that you may have it you can do this STOP-BANG questionnaire and discuss the results with your GP to see if you might benefit from further assessment.
A Stargardts gene therapy trial is starting early this year in Spain
In this new stage 1-2 clinical trial, the SB007 gene will replace the faulty ABCA4 gene that allows fatty proteins to build up in the photoreceptor cells in Stargardts. It is the accumulation of these abnormal proteins which causes photoreceptor cell death and early blindness in Stargardts. The preclinical studies looked great so crossed fingers for a good clinical outcome.
That’s all folks, till next time.
HAPPY NEW YEAR!
Cathy x
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.
