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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 6

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 6: What is your current research focus?

(HL) I’m mainly funded to develop the L-Dopa treatment for albinism. That is essentially in two parts. In the lab what we’re trying to understand is how L-Dopa influences retinal development and how a lack of that, which is what happens when you lack pigment, causes the retinal problems and subsequently the visual problems. Then we’re looking at how replacing that can help reduce the disability caused by the lack of L-Dopa. We’ve done this in albino mice and they’ve done really well.

The second phase is when we take this to a small pilot trail. We work with a group of children who have a diagnosis of oculocutaneous albinism. That is only one type of albinism. It’s quite specific, but it’s a start. What we’re trying to do is make the retinal development more normal in those children, so it prevents them having the level of visual disability they would have had.

(JS) We’ve also been focusing on genetics. We developed a platform so people could be tested. We’re also looking at why we don’t always get a result by working on lots of background genetics. One of the things we’re finding is that there are lots of different types of albinism but they all cross over massively. This is why there are so many patients with clear albinism who get a partial result, which doesn’t make sense. It’s because they’ve got lots of contributions from lots of different genes.

We’re also looking at some very early phased treatment. We developed some cell assays. These are little cells which have albinism. We can put these cells on plates and throw loads of drugs at them. These are drugs which might work for various reasons or even massive batteries of drugs where we have no hypothesis about why they would work, but because you can scale it up to 1,000s and 1,000s you can just get random hits. That’s how pharmaceutical companies develop new drugs for things.

We’re also doing a bit of work on outcome measures. In a lot of the clinical trials the question is ‘in what way has it helped nystagmus?’ Has it made the wiggle less? Have people tested that just by looking or just asked the patients ‘Do you think your eyes wiggle less?’ Have they done vision tests, bearing in mind that we know that vision isn’t really a very good test.

There are loads of things which patients have said have changed things massively for them, but none of the things we test are any better. So, we’re trying to develop proper outcome measures.

We’re also doing some work on questionnaire studies. Are you registered? Are you getting support?

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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 5

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 5: What are nystagmus researchers currently focused on?

(JS) There are lots of different avenues. There is an element of ‘If you’ve only got a hammer, every problem looks like a nail’. What I mean by that is that I’ve got a background in genetics, so I will look at all the ways genetics can help with nystagmus. We both have a background in clinical trials, so we always look at ways we can test things. If you’re an eye movement person who’s done 30 years of eye movement research you’re always going to look for an eye movement avenue. There are different people with very different expertise. We really need to broaden the net, because there will be people whose research is based on a particular molecule and they’ll try and work out how that is relevant to nystagmus. The more people you have and the broader it is, what tends to happen is that things start to come together and you get collaborations. Or there’s a totally different avenue of science that none of us even knows about.

The work that the Nystagmus Network are doing to try and broaden it out with broad calls for research is a brilliant idea. You never know. You could get people coming in from a totally different angle which might seem crazy or we’ve just never heard of that technology and suddenly that’s the thing that unpicks one part of it.

There are lots of people doing lots of different things, but you can always get more. There are themes to the answer. Lots of people are looking at diagnostics. People like me from the genetics point of view. There are quite a few looking at the use of eye trackers to help with diagnostics. There are others focusing more on support and wellbeing. Then there’s the treatment group as well.

There are also people looking at other conditions, such as retinal dystrophy researchers. Nystagmus is a major part of their phenotype, but, if you asked the patients, they wouldn’t tell you they’ve got nystagmus, they’d say they’ve got RP or cone dystrophy, or whatever. The nystagmus is just considered part of it from their point of view.

When we go to American Nystagmus Network meetings everyone is joined together by their common nystagmus and actually nobody thinks beyond that or questions why their sight is particularly bad or another person’s really good. It’s because they’ve all got completely different conditions.

There are 3 different groups of patients with nystagmus. There are those with neurological problems of which there is a huge long list, not just the acquired nystagmus cases but also children born with various neurological conditions. Then there are the ones with significant eye problems. For example, anybody born with very poor vision will get nystagmus. Then there is the group where it’s a bit more mixed, where nystagmus is a part of it. In that group I include people with idiopathic nystagmus, subtle aniridic changes or albinism.

Research is still going on into the neurological causes. Neurologists would, however, probably be about 5 sentences in before they mentioned nystagmus, because it’s not considered the main part of the phenotype.

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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 4

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 4: How much would it cost to cure nystagmus?

(HL) The grant that I got, which isn’t going to cure even a fraction of nystagmus, was £1.4 million and that’s only the beginning. It’s not going to cure it completely.

(JS) So that’s one small clinical trial. The L-Dopa study is going to work for a subset of a subset of people with albinism. It may well not work in all of them. This is the first clinical trial and usually you need a few clinical trials to get things going. So we are talking about millions and millions and millions of pounds.

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.

If you would like to donate to the Nystagmus Network nystagmus research fund you can do so here.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 3

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 who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.
Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 3: Would it cause more problems to stop the eye wobble?

(HL) We have very poor understanding of nystagmus, why it occurs and why it’s happening in the first place. We do know that for adults who acquire nystagmus, it’s horrendous because they haven’t compensated for it. The entire world moves around them. So for them it is worthwhile stopping the wobble, because their visual system has developed to work with eyes that are steady.

In some children with nystagmus, we know that when we perform certain kinds of surgery for their null point so that their eyes can be more steady, it does seem to improve their visual function. Just this experience would seem to suggest that reducing the wobble helps to some degree. Eliminating the wobble entirely is a difficult one to answer, because in how many people have we managed to do this? And how can we ask them whether they’re better off with or without it?

(JS) I would agree. I think it’s unlikely that, if we stopped it, it would make visual function worse. People have done experiments with gaze contingent visual tracking so that they look at a screen and wherever their eye looks the image moves to it, so in theory they are simulating removing the nystagmus. It does seem to help with speed of seeing. They haven’t reported having any specific problems, but obviously that’s a simulated scenario. I think it’s unlikely.

The question probably arises because we’ve talked for years about nystagmus being a compensation mechanism for something going wrong. One way of thinking about it is that it’s not an effective compensation. It doesn’t really achieve what it’s trying to achieve, as far as I’m aware.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered – question 2

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 who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.
Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 2: Why isn’t there a focus on cure?

(JS) Sometimes people’s focus changes from cure to what we can do right now to help people in education and so on. I think the honest answer is that all of these things need to be addressed, often by very different groups of people. There are some quick wins and some slower ones. It’s a multi-team effort. It doesn’t mean that one team is more important than the other.

For quite a while we have said that diagnosis is more important at the moment, because it’s very easy to test drugs and do clinical trials, but actually you’re never going to get funding for it and it’s not very likely to work unless you have a very good argument as to why it will work and for that you have to have specific groups of patients.

Cure has lagged behind, but we are getting there thanks to Helena’s work on L-Dopa. And there are a few other things. But if there’s one thing we should focus on, for me it’s getting to the bottom of what’s causing it.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

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.

The Nystagmus Network logo and the words nystagmus research

Your nystagmus research questions answered

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 who has been researching nystagmus for around 15 years since studying nystagmus for his PhD. He runs specialist nystagmus clinics and researches primarily cause and diagnosis and treatment of albinism since around 50% of his nystagmus patients seem to have albinism.
Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher, currently working on developing a treatment for albinism.

Question 1: Will there ever be a cure for nystagmus?

Answer: (JS) Nystagmus is the result of a lot of different things going wrong. Traditionally, to try and find a cure for anything you really need to know what that thing is that has gone wrong and quite often it requires very different treatments. It’s a bit like trying to find a cure for stomach ache. You’re never going to find a cure that treats all types of stomach ache. You need to find out what the cause is and then look at lots of different treatments.

There is also the opposite way of looking at it. If nystagmus is the final result, is there something that can be done to stop the eyes from ‘wiggling’. Will that actually help? In some situations and for some people I think it would. For instance, if you’re an adult and you have acquired nystagmus and oscillopsia because your eyes are moving all the time, that is horrendous. So if we could find a cure for that part you might say you don’t then need to know what the underlying cause is.

So there are different ways of looking at it, but I think a single panacea for nystagmus is very unlikely. I don’t think anyone is going to invent a pill which corrects all the underlying causes.

(HL) I would agree with that. It also depends on what you define as a cure. Is it getting rid of the wiggle entirely or is it to deal with some of the side effects of the nystagmus? We will be able to help with a lot of that in time. It’s just a question of dealing with each problem as they come along and dealing with it on an individual basis. Some people may not be bothered by the wiggle but by the visual function. Some people care more about how their eyes look.

But Jay and I remain optimistic that by the end of our careers we will have found some sort of cure for everything that causes nystagmus.

(JS) An added complication is that there are different types of albinism which have their own causes, so one type of treatment might be appropriate for one type of albinism and not for another. The final level of complexity is that things often depend on who you are and where you live. For example, if you live in sub-Saharan Africa the colour of your skin may be the most important thing to you if you have albinism. If you live in Scandinavia or Europe, the colour of your skin may be way down the list and the vision or the nystagmus may be more important to you.

Nystagmus researchers have for a while talked about developing a kind of toolkit which can be added to. For example, for other conditions you have lots of different tools which can be used in different scenarios. That’s the end point we would really like to get to. It’s going to be slow. It will take a long time. There will be advances in some areas, whereas others are falling back a bit. It’s a levelling process. It’s going to take a while.

We will publish more of your questions and the answers Jay and Helena gave over the next few days.

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.

Marie Turnbull

Join us at the Manchester meet up

The next meeting of our north west regional Nystagmus Network support group is on Saturday, 25 April from 1 to 3pm in central Manchester

Adults with nystagmus, parents of children with nystagmus and anyone supporting someone with nystagmus are all welcome to come along.

The meeting is hosted by Nystagmus Network trustee, Marie Turnbull (pictured).

The focus of the meeting this time will be nystagmus research. There will be a short, pre-recorded film by Associate Professor and Consultant Ophthalmologist, Jay Self from Southampton University Hospital. 

Jay will answer any research questions group members have about nystagmus, cure, treatment, testing, etc. You can email your questions in advance.

If you would like to join this regional group, come along to meetings and take part in the Q+A with Jay, please contact us today.

Thank you

Nystagmus Network UK research workshop 2019.

UK Nystagmus Research Workshop

The Nystagmus Network is today hosting the UK Nystagmus Research Workshop 2019 at the School of Optometry and Vision Sciences, Cardiff University. Delegates are joining us from the 6 UK centres of nystagmus research excellence. These are:

The School of Optometry and Vision Sciences, Cardiff University
The Ulverscroft Eye Unit, University of Leicester
Moorfields Eye Hospital, London
The Royal Eye Infirmary, Plymouth
The Academic Unit of Ophthalmology and Orthoptics, University of Sheffield
The University of Southampton and Southampton General Hospital

All delegates will also be attending the Nystagmus Network Open Day 2019 at the Principality Stadium, Cardiff on Saturday.

Nystagmus Network research conference 2019.

Nystagmus research conference 2019

The Nystagmus Network will once again be hosting a UK nystagmus research conference in 2019.

Following the success of last year’s event, attended by research and clinical teams from the Universities of Cardiff, Sheffield, Plymouth and Southampton and from Moorfields Eye Hospital and Fight for Sight, the charity will be funding a further event with a view to bringing about ever closer collaboration between teams and seeking out new and collaborative ways to make rare resources stretch even further.

As testing and detection become ever more sophisticated, it is hoped that outcomes for babies born with nystagmus will continue to improve, with effective treatments, prevention and even cure moving closer. In addition, therapies and interventions for young people and adults with congenital and acquired nystagmus continue to be explored.

This year’s conference takes place at the University of Cardiff in September. Delegates from across the UK have been invited and the charity is delighted to announce that representation from Leicester, London, Plymouth, Southampton and, of course, Cardiff is already confirmed. Clinicians, researchers and academics will be joined by Research Manager at Fight for Sight, Neil Meemaduma and those Nystagmus Network trustees who sit on the charity’s research committee.

Research teams will also attend the Nystagmus Network Open Day in Cardiff on Saturday 28 September, where they will be available to speak with delegates about their work.