'As scientists our ultimate aim is to make people’s lives better'Posted: Monday 22 June 2020 at 16:13
What is the progress with research into macular disease?
This week we have shared Matilda's story. Matilda is just seven years old and her parents would so desperately like a cure in her lifetime. So, what progress is being made?
Matilda has a rare type of macular disease known as Best disease.
Dr Amanda Carr from University College London is currently working on a research project, which is looking into treatments for this rare form of the condition.
She has talked to us more about the progress being made and what this progress could mean for other types of macular disease....
Amanda says: "Matilda has a condition called Best disease, which is caused by mutations in the Bestrophin (BEST1) gene. Patients inherit a healthy copy of the BEST1 gene from one parent and a mutated (diseased) copy of the gene from the other – in Matilda’s case, her mum Kay.
"Our project, funded by the Macular Society, is looking at new ways of ‘switching off’ the mutated copy of the BEST1 gene, leaving the healthy copy to do its normal job.
It’s not just about cells in a dish
"We have a really close connection with our patients; they’ve volunteered, they’ve given us their cells, to help with research. When we talk to these people, we see how it affects their lives, and their children’s lives.
"Their stories are a powerful motivation to find a cure for macular disease.
We have come so far already
"So far, we have been able to effectively ‘switch off’ the disease gene in cells in the lab, and we’re now working flat out to discover whether this makes cells behave and function normally.
"If it does, we could move this potential treatment into patients, and be one step closer to saving Matilda’s sight.
I want to give patients the good news
"The thought of being able to tell our patients that we can prevent their sight – or their child’s sight – getting worse, or stop the disease happening in the first place, would be absolutely amazing.
"But without more funding, we can’t do more research which would be the worst-case scenario for us. That’s obviously the last thing we want, especially as we’re making such good progress.
This is why we need more research into eye disease
"Working with eye cells is so exciting. It’s where all the new therapies are being tested for the first time – stem cell therapies, gene therapies, and now gene editing like my team’s work.
"But because losing your sight isn’t life-threatening, there just isn’t the funding for eye research that there is for other conditions.
"If we can prove that these therapies work for Best disease, we can adapt them to treat other macular diseases, and then other inherited diseases, even ones that don’t affect the eyes.
"Although funding for eye disease is limited, the progress that we’re making is way above what people are doing in other areas of the body. You get a lot for your money if you fund eye research.
"We have to push forwards. So far we’ve worked with cells from a couple of people, but we know of hundreds and hundreds of patients with similar macular conditions, all caused by different mutations. We want to make sure there is a treatment – a cure – for all of them.
"For us, it’s not just a job; it is a vocation. We go in at weekends, we put in hours that you wouldn’t do in another job, to push forwards.
"As scientists, that’s our ultimate aim – to make people’s lives better."