Tag: nystagmus research

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.

30 years of nystagmus research – what a difference it has made

When my daughter was 6 weeks old a paediatrician at baby clinic told me she was blind. Just like that. No preamble. It was a devastating experience, a cruel message, bluntly delivered.

I went to see my GP, whom I knew well and trusted. She confirmed what I already suspected. My daughter wasn’t blind, but she did have something wrong with her eyes.

My doctor wrote the word nystagmus on a compliment slip and handed it to me. She couldn’t tell me any more. I had so many questions, but she had no answers for me. She made me an emergency appointment (another scary thing to hear at this point) with the ophthalmic hospital. It took two weeks to come through.

There followed a barrage of tests, each more alarming than the last, and at the end of it all we still had nothing but that ugly word, nystagmus.

I keep that compliment slip to this day as a reminder of how far we have all come. It’s what spurs me on to support other parents and raise awareness and understanding of this complex condition.

Since the early 1990s the Nystagmus Network has campaigned for and invested in nystagmus research whenever funding permitted. Thanks to the generosity of our supporters, there has been a substantial sum invested nearly every single year.

In the past 30 years clinicians have gained so much knowledge about this truly Cinderella condition: how to diagnose it, which of the many possible causes may be responsible for it and even how well a child will be able to see. They have also learned a lot about delivering worrying news to a parent.

Today researchers stand poised to unlock genetic secrets, manipulate enzymes and stop nystagmus in its tracks.

We have come this far together in just 30 years, a period which has seen the birth of the internet, the end of apartheid in S Africa, the fall of the Berlin Wall, the credit crunch, a decade of austerity, Brexit and, today, a global pandemic.

Who knows what is to come next for our brave new world? One thing is for sure. The Nystagmus Network will still be here, making your voice heard, working alongside the best brains in the country to find effective treatments and yes, eventually, a cure.

With your help, we can do this.

To donate now to the Nystagmus Network research fund, please click here. 

THANK YOU.

Fight for Sight and Nystagmus Network logo.

Nystagmus Network research investment 2020 – 2021

An update of our post doctoral award

For those of you eagerly awaiting news, alongside charity trustees, of the outcome of 2019/2020 applications for the new post doctoral research project into nystagmus, jointly funded by the Nystagmus Network and Fight for Sight, we can now share with you the somewhat disappointing news that the project grant will not be awarded this year.

Research priorities

Sadly, although the applications received were strong and very much in line with research priorities laid out by the charity on behalf of the nystagmus community, the expert members of Fight for Sight’s Grant Assessment Panel found that no application met the stringent success criteria required in this very competitive research arena. A post doctoral award is highly prestigious and offered on a fully peer reviewed basis.

Next steps

For the charity this was initially seen as a setback, but it also serves to highlight our faith in Fight for Sight to carry out due diligence on our behalf and the importance of wise investment in robust research projects which are most likely to yield tangible benefits for those living with nystagmus.

Two new research grants

In consultation with our funding partners, Fight for Sight, the Nystagmus Network has now decided to repurpose the hard won monies already committed to the post doctoral project into funding one post-graduate researcher to address visual impairment associated with nystagmus (a new PhD studentship) and, in addition, to provide a further grant award for a clinical research study focusing on quality of life and one or more of the following: cause (including genetics), diagnostic testing/analysis and treatments.

Funding future research

It is very positive news for the future of research for the Nystagmus Network to be funding PhDs, as it establishes a pipeline of work leading to breakthroughs into treatments for nystagmus.

New time scales

Following a rigorous application process, again overseen by experts at Fight for Sight, we expect to award our PhD nystagmus studentship in March 2021. The additional small grant will be awarded in September/October 2020 or March 2021.

Nystagmus Network Honorary President and chair of the charity’s research subcommittee, Vivien Jones, said:

“Through the new nystagmus PhD studentship we shall be bringing new brain power at a significant level to the nystagmus research table. We are also delighted to be continuing the small grant scheme which is an effective way of supporting research projects.”

You can help us keep investing in nystagmus research by donating to our research fund.

THANK YOU.

Research on nystagmus and glaucoma

As previously reported here, the Research Unit for Nystagmus at Cardiff University has been looking for people with nystagmus to take part in a survey that aimed to further their understanding of the number of people with nystagmus who have also been diagnosed with glaucoma.

Nikita Thomas, of Cardiff’s School of Optometry and Vision Sciences says: “Thank you for sharing. We’ve had a fantastic response.”

The survey is now closed. Thank you to everyone who contributed to the study. We will report on progress as soon as we can.

Volunteers needed

It’s thought that some types of nystagmus are caused by a genetic spelling mistake. Although nystagmus is not classified officially as a rare disease, we can all take part in genetic research to help researchers find out more.

The NIHR BioResource – Rare Diseases has been established to identify genetic causes of rare diseases, improve rates of diagnosis and to enable studies to develop and validate treatments; thus improving care for those with rare diseases and their families.

There are approximately 7,000 inherited rare diseases and the genetic basis of about half of these have been discovered, the challenge now is to identify the remaining causes of rare diseases.

  • 1 in 17 people will develop a rare disease at some point in their lives
  • 30 million people across Europe have a rare disease
  • 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday
  • A rare disease affects the individual, parents, siblings and friends; many people’s lives are affected by rare disease

The NIHR BioResource – Rare Diseases recruits affected participants and their relatives across several different disease areas including Infection and Immunity, Neuroscience, Rare Diseases (including Rare Cancers) and Cardiovascular Disease.

The whole genomes of a large number of participants have been studied and an extensive range of phenotype information has been captured.

Watch the short film below featuring Professor Willem Ouwehand and Dr Ernest Turro, both researchers at the NIHR BioResource for Rare Diseases as they talk about the importance of volunteers to help them understand more about the genetic causes of rare disease.

Read more about the research project here

Watch the video here

People chatting.

Nystagmus researchers need your help

Common misconceptions about nystagmus

A team of nystagmus researchers in the UK have recently shown that there is significant variation in the way people with nystagmus are supported and given information, from diagnosis to treatments and beyond.

They are now interested in studying public perceptions of nystagmus and are developing a similar questionnaire for both people with nystagmus (and their parents/carers) but also the general public.

The study will take the form of an online questionnaire and seek to understand both the public’s assumptions and understanding of what nystagmus is, alongside what people with nystagmus feel is commonly misunderstood or misinterpreted.

Do you have any suggestions for things which the research teams could ask to help highlight common misconceptions or assumptions about nystagmus? If so, please complete the form below. Thank you.

Thank you to everyone for sharing your thoughts on common misconceptions about nystagmus. This study is now closed. We will report on progress as soon as we can.

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