Tag: gene therapy

Nystagmus Network Trustee Paul Rose and Dr Matteo Rizzi from the UCL Institute of Ophthalmology, looking at images captured with their high-speed camera.

Nystagmus Network visits pioneering research in London

The Nystagmus Network is committed to supporting groundbreaking research, from understanding the root causes of nystagmus through to managing and treating the condition.

Recently our trustees, Paul Rose and Harshal Kubavat met with Dr Matteo Rizzi to discuss his team’s innovative work at the University College London (UCL) Institute of Ophthalmology.

For those who follow the charity’s research activity, Dr Rizzi is no stranger: in 2022 he was a recipient of the Small Grant Award funded jointly by the Nystagmus Network and Fight for Sight.

The effects of nystagmus on individuals and their families can be wide and varied. For some it has a relatively low impact on daily life, while for others it proves to be a debilitating condition, making everyday activities challenging. Current research, like that carried out by Dr Rizzi’s team, is crucial in finding broader solutions that could benefit a wide range of patients.

Dr Rizzi’s research into Gene Therapy

During our visit we were shown how Dr Rizzi’s research explores the use of gene therapy to target specific retinal cells responsible for nystagmus. At their research facility they are testing new DNA sequences called “promoters”, which are designed to limit the production of therapeutic molecules to specific retinal cells. When testing this gene therapy on healthy (non-human) subjects with ‘evoked nystagmus’ (evoked by showing moving stripes on a computer screen), the gene therapy was seen to dampen and almost eliminate the nystagmus-like movements. The next step is to try this approach on subjects who have nystagmus and see whether the same effect can be seen.

From our discussions it seems a promising approach that could, in the future, offer significant improvements in vision quality for many patients. Truly remarkable! Of course, this comes with the usual caveats – this work is at the very early stages and exploratory. It takes years and in many instances decades to come to fruition, if successful. But we have a beginning!

In Dr Rizzi’s own words:

“The Small Grant Award from the Nystagmus Network alongside Fight for Sight has been unquestionably instrumental for me to start work in this space. It provided me with the resources to test out our initial thinking and has enabled us to generate hugely valuable data that we hope will contribute to a greater understanding of nystagmus, and perhaps eventually a treatment. Thanks to all those that supported our work”

IMAGE: Nystagmus Network Trustee Paul Rose and Dr Matteo Rizzi from the UCL Institute of Ophthalmology, looking at images captured with their high-speed camera (acquired through a Fight for Sight / Nystagmus Network grant) / July 2024.

The Value of Fundraisers and Supporters

Our visit underlines the importance of why continued funding for such research is vital. It not only allows scientists to explore new avenues but also helps translate these findings into something that may one day become a clinical treatment that can change lives. This is where our community of fundraisers and supporters becomes invaluable. Every donation, every fundraising event and every act of support contributes directly to advancing research that holds the potential to alleviate the challenges faced by those with nystagmus.

Fundraisers and supporters are the backbone of our charity. Your contributions provide the essential resources needed for pioneering research. For instance, the Fight for Sight Joint Small Grant Award has enabled Dr Rizzi’s team to get this far. Imagine how much further they could get with continued funding and support? Each breakthrough, no matter how small, brings us closer to finding effective treatments and improving the quality of life for those living with nystagmus.

Pride in the UK Research Community

We take immense pride in the continued support and collaboration of the UK research community in tackling nystagmus. Institutions such as the UCL Institute of Ophthalmology and Moorfields Eye Hospital have been at the forefront of ocular gene therapy research. Their integrated approach – where therapeutic strategies are developed and clinically tested within the same ecosystem – exemplifies the synergy between research and practical application. These research programmes and wider international collaborations have been instrumental in identifying the specific retinal cells involved in nystagmus, paving the way for targeted treatments.

The Journey Forward

The journey to understanding and treating nystagmus is long and complex, but with your support, we are making significant strides. The research funded by Nystagmus Network is not just about scientific discovery; it’s about bringing hope to thousands of individuals and families living with this condition.

As we look to the future we remain dedicated to supporting innovative research, fostering collaborations and ensuring that the findings of today become the treatments of tomorrow. Your ongoing support is crucial in this mission. Together, we can continue to push the boundaries of what’s possible, bringing us closer to a world where nystagmus is no longer a barrier to a fulfilling life.

Get Involved

We invite you to join us in this vital work. Whether through donations, participating in fundraising events or simply spreading the word about nystagmus. Every action makes a difference. Visit our website to learn more about how you can contribute and stay updated on the latest research developments.

Together, we can transform the lives of those living with nystagmus. Thank you for your unwavering support and commitment to this cause.

 

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 7

We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.

Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.

Question 7: Can you tell us about gene studies and personalised medicine and how that might be a breakthrough for nystagmus?

(JS) The main development in genetics is being able to do loads of sequencing. That means finding out all the genes that lots of individuals have, what their particular spelling changes are and how they’re different to everybody else. That’s part of the 100,000 genome project.

The problem we have is then interpreting all that material. All of us will have a few million variants that are different from each other, that we shouldn’t really have or that we haven’t seen before. When you test 3.2 billion things you find all of this data and the question is that we haven’t all got a million diseases so some of them are causing things, some aren’t. It’s all about interpretation. This is where diagnostics comes in. We are getting better at that. It will lead to being able to group patients better. So when you then go on to test things or see what happens during life, or to see whether having funny toe nails really is related to nystagmus, you can start to look at groups and what these conditions are and then what you can do about them.

The second thing about gene therapy and gene changing, that absolutely is relevant. There are quite a few retinal conditions which cause nystagmus for which gene therapy is already going through. There’s one which is now NIHCE approved. This is going to be available through the NHS as one of the first ever gene therapies. It’s for a type of RP called Leber’s.

Gene therapy is a potential, but it goes a bit further than that. There are various drugs now which we know can change certain spelling mistakes. There are also some albinism changes that we’ve looked at before.

There are lots of other potential medical therapies which might change genetic outcomes. This is where this all might contribute, but we need to keep refining and refining the patient groups stage. There is no way any of that is going to work as a panacea.

It’s one thing to look at nystagmus as an end point. All this is about looking at the opposite end, at very specific changes.

Quite often, if you’ve got a single gene that causes a disease, some drugs might only work if it’s a particular type of spelling mistake in a particular part of that gene, if you happen to be male, etc. So you can end up with tiny numbers. One of the challenges is that originally gene therapy was reported as being able to correct spelling mistakes. But if you have 4,000 spelling mistakes you can’t develop 4,000 different gene therapies. So the idea now is to develop gene therapies that replace bigger chunks to treat more variations or more patients.

(HL) As we understand how the disease is developing as a result of each of the spelling mistakes, we’ll also understand how to target the treatment. It might not necessarily be gene therapy. It might be something as simple as a dietary supplement. We need the genetic test then we can say you can benefit from this combination of things. You need this and this to start with. We know this is how your disease will turn out, we know that this type of gene therapy would probably be pointless for you. The idea with personalised medicine is that each person goes in and comes out with a different set of advice and guidance or treatment.

The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.