Gene.Vision website about aniridia launched

Medical information about aniridia, written for both patients and doctors is now available on a new website by Moorfields Eye Hospital.

Gene.Vision contains in-depth, but easy to read, details about aniridia for patients and their families. For example there is an overview of the eye’s structure for those without prior knowledge. It also lists current research and clinical trials in to treatments.

Alongside is scientific content aimed at clinicians and other professionals who are diagnosing patients or learning about the condition.

Gene.vision website

Professor Mariya Moosajee set up the site. As a practising consultant ophthalmologist specialising in aniridia, she said that she:

“has had countless conversations with families struggling to find the information they needed on their condition, including the appropriate care pathways, latest research and accessing social support. Often patients would report never receiving an explanation on what their rare disease was and how it was caused.”

She also hopes it will be used by GPs and other referrers to understand their patient’s condition and how to provide the best care plan, quickly and easily.

It was vital to test that the website could be used by everyone, especially those with all levels of sight loss and using magnification or screen reader software. A user focus group and testing session helped make iterate a prototype. So the final site is useful for parents, younger people and health care professionals. It adapts well to use on mobile devices too.

“The page speaks to a patient or a family member. I think it addresses the issues they want to know about. The content is not too detailed, digestible and easy to understand”

Parent of visually impaired child

“Gene.vision is easier to read and has a softer tone than Wikipedia. The layout is more user friendly as well”

Visually impaired person
9 people sitting at 7 computers
Usability and accessibility testing session

Aniridia Network contributed to the website’s content. Trustee James Buller was a digital consultant for the project. He advised on development methods and checked the code for accessibility issues. He later took part in the trails too. This led to helping to edit a paper, that was later peer-reviewed and will soon be published in the Journal of Medical Internet Research.

“I have been advocating for a website like this for many years. A free, easy to use, authoritative, up to date aniridia resource is badly needed by our worldwide community. I am delighted to have played a part in making it a reality. I hope it will grow in size and effectiveness over time.”

James Buller

The website hosts resources relating to several other rare genetic eye diseases. Genetic disorders are rare, but together contribute to more than 60% of blindness among infants worldwide2. Inherited retinal diseases are the commonest cause of blindness among working-age adults generating a huge burden for those with the disease and their families.3

“It can be devastating for those receiving rare genetic diagnoses, and frequently patients are not provided with the accurate information they need. Unfortunately, there is also a lack of professional knowledge so patients are not always signposted to relevant resources for information and support, or offered the appropriate investigations, which could really benefit them in the short and long term.”

“Families deserve to know whether the condition could reoccur in future pregnancies or be passed on to the next generation, or if there are clinical trials they could access. Receiving a genetic diagnosis can cause a great deal of anxiety and worry. Hence we needed a trustworthy open-access knowledge resource that complements other credible and accurate information already out there.”

Professor Moosajee
Woman wearing a white coats in a laboratory
Dr Mariya Moosajee

Gene Vision was developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation) at Moorfields Eye Hospital in 2019/20. It went live on 1 December 2020.

The website was jointly supported and funded by The National Institute for Health Research (NIHR) Biomedical Research Centre (BRC) at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology and Retina UK, a charity which works for people with inherited sight loss.

Key medical charities including Microphthalmia, Anophthalmia, Coloboma Support, Aniridia Network, International WAGR Syndrome Association, Nystagmus Network and others have also inputted on content.

References

  1. Jeans for Genes;  accessed 17.11.20
  2. Cleveland Clinic; accessed 17.11.20
  3. Liew G, Michaelides M, Bunce C. A comparison of the causes of blindness certifications in England and Wales in working age adults (16–64 years), 1999–2000 with 2009–2010 BMJ Open. 2014 Feb 12;4(2):e004015.

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Aniridia Network Online Conference 2020

This year’s Aniridia Day was more important than ever. The absence of our usual conference, due to pandemic restrictions, made it vital to find another way of connecting aniridia patients with one another, and with those who support them.

We therefore held a special online conference, providing an afternoon of free, informative presentations and discussions about aniridia. Anyone was welcome to attend from all over the world, especially patients with aniridia and their relatives in the UK and Ireland.

Watch recordings of the event on YouTube.

We had fantastic speakers and time to ask questions and chat with people also affected by the condition, as we all celebrated international Aniridia Day together.

The agenda included:

  • Open discussion for all attendees
  • Dry Eye Disease and Aniridia – Colin Parsloe will talk about the causes and treatments for the gritty sore sensation many feel in their eyes.
  • “But you don’t look blind?”Charles Bloch will talk about challenges and successes at university and finding jobs with aniridia.
  • Annual General Meeting 2020 of Aniridia NetworkReports, financial accounts, questions and comments.
  • Achievements with AniridiaSinead Kane will give a motivating talk about becoming a lawyer, multi-marathon athlete and world record holder with aniridia.
  • Success at Aniridia CentreDr Natella Sukhanova will show how she has created an effective centre of excellence at the Research Institute of Pediatrics in the Central Clinical Hospital of the Russian Academy of Science.
  • Open conversation for all attendees
  • Perhaps other sessions, to be confirmed.

The event was also a substitute for the European Aniridia Conference in London, which is delayed until summer 2021.

James wearing a Aniridia Day t-shirt in front of computer monitors showing Charles Bloc and thete Aniridia Day website
James listening to Charles Bloc’s talk
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2020 Annual General Meeting

The Annual General Meeting (AGM) of Aniridia Network, a charitable incorporated organisation was held online between on 21 June 2020 to transact the business below. It was held accordance with our governing document with adaptions due to restrictions relating to the coronavirus pandemic. It was a session between online seminars as part of Aniridia Day.

Agenda

  1. Minutes of the Aniridia Network 2019 Annual General Meeting to be agreed. Watch the video of the 2019 AGM.
  2. Matters arising.
  3. Reports & Accounts 2019/20
    To receive and consider the accounts for the financial year ending 2020 and the report of the charity trustees
  4. Noting the deferment of retirement by rotation of a trustee – see below
  5. Any other business.

By order of the Trustee Board

No proposals for resolutions were received.

Deferment of retirement by rotation of a trustee

The trustee board of Aniridia Network decided to suspend the voting element of this year’s Annual General Meeting (AGM) due to COVID-19 and logistical difficulties. We had already given notice by email and website post, that the AGM would take place as a video conference because of social distancing requirements. This still took place online.

Members could review the board’s annual report including financial accounts plus previous meeting minutes. They could raise questions or comments during the meeting. As is customary, without objections these documents were then deemed accepted.

As there were no new nominations, the only other agenda item to was to have been to  reappoint Katie Atkinson as a trustee. It was her turn to ‘retire’ under a rotation system, despite serving only 2 years of a normal 3 year term.

The trustees looked at the practicalities of holding an election by post and email. They concluded that a postal vote would be difficult to run efficiently, cheaply and fairly. They also considered the Charity Commission guidance on cancelling AGMs and the context of the currently 4 out of 5 filled trustee posts. As a compromise, the board decided to hold the meeting but waive the requirement for Katie to retire this year. This avoided a vote but still put the team up for scrutiny.

We hope members understand this choice, which was not made lightly. We welcome your questions or comments about it.

The board will strive to work on issues relating to voting members, with the goal of proposing one or more solutions to members next year.

Join the Trustee Board

Trustees are the volunteers who form our governing body. They work as a team and are collectively responsible for controlling the management and administration of the charity. Being a trustee can be hard work, but also be very rewarding and provide great opportunities for personal development and improving your employability.

Interested? Find out more about being and how to become a trustee.

Trustee nominations must be received by post or email to the trustees.

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Annual Report 2019-2020

A young girl smiling and wearing sunglasses, while holding a white teddy bear. The bear has a red bow tied around its neck, and is wearing a white t-shirt featuring the Aniridia Day logo.

Read details of what our officials, members and supporters did and our finances between 1 April 2019 and 31 March 2020 in the Aniridia Network Annual Report for 2019/20.

The hightlights include:

Thanks to great efforts by everyone who helped with these achievements

However, we continue to struggle to do some basic things well and rely too much on a few very active volunteers. We badly need more people to help us achieve our goals. Please volunteer if you can.

The report will be received at the charity’s Annual General Meeting 2020

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Join our trustee team in 2020/21

Trustee group posing

Trustees after the 2019 Annual General Meeting: Eleanor, Dave, Sarah, James, Kaite

Could you lead our charity to: ensure it runs properly and enjoys success?

We need all the help we can get. Don’t assume others will do it all or even as well as you could. We’re seeking new people to fill gaps on the Aniridia Network Trustee Board – how about you?

Trustees are the people who form our governing body. They are responsible for controlling the management and administration of the organisation. Trustees are volunteers and work together as a team, with collective responsibility for the charity.

Being a trustee is very rewarding but can be hard work too. It provides opportunities for personal development and improving employability. Trustees are not paid but are repaid out-of-pocket expenses.

Find out more about what is involved in being a trustee at Aniridia Network.

Sarah Matthews who was elected last year is no longer a trustee so we have a space on the board which has up to 5 posts. We would particularly value anyone with: financial, fundraising, volunteer management or business development skills. We would also be very keen to talk to you if you could also help in these areas without being a trustee.

Current trustee Katie Atkinson is also due to retire by rotation as our constitution requires. She will be standing to be reappointed.

Trustees for the coming year will be at voted in by our members at our next Annual General Meeting on 21 June 2020.

If you want to join the team, fill in the trustee nomination and declaration form and submit it to us by 22 May 2020.

If you have any questions, ask them in the comments below or email info@aniridia.org.uk.

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Get a call to ‘Ask the expert’ about aniridia

Woman wearing a white coats in a laboratory

Dr Mariya Moosajee

Six members got to speak with an expert who cares for lots of patients with aniridia and has a detailed knowledge of the field

A doctor who specialises in aniridia very generously offerred one-to-one calls with those affected by the condition, during the COVID-19 lockdown.

People with aniridia or their relatives, who are members of Aniridia Network, could request a 20-minute conversation with Dr Moosajee at Moorfields Eye Hospital to talk about the disease.

Dr Mariya Moosajee is a Consultant Ophthalmologist at Moorfields and Great Ormond Street Hospital for Children in London. She is also an Associate Professor leading a research group at UCL Institute of Ophthalmology and the Francis Crick Institute.

She specialises in genetic eye diseases and spends half of her normal working week, seeing patients in clinics with conditions such as aniridia. The rest of the time she researches its causes and is developing potential treatments, to hopefully benefit patients in future.

Mariya said:

Over this lockdown, I have continued my clinics at Moorfields but virtually, through video consultations and telephone calls. Being in contact with their specialist has provided my patients with a lot of comfort during this worrying time.

For the past couple of weeks, I felt I needed to do more to help people. Sadly, my intensive care skills are not up to scratch, although I may still be redeployed to the Nightingale Hospital. What I can offer is advice and guidance to patients with rare genetic eye diseases.

So I have reached out to Aniridia Network to offer a weekly “Ask the Expert” session exclusively to its members.

Every Thursday morning Mariya was more than happy to have one-to-one calls, to chat and answer any questions (or point people in the right direction) about the following:

  • aniridia
  • connecting with specialist services
  • accessing genetic testing
  • interpreting your genetic testing result
  • research and clinical trials that may be applicable

You did not have to be a current patient of Moorfields Eye Hospital or Great Ormond Street Hospital to request a call.

This was not a formal clinical consultation: Mariya didn’t take clinical notes or refer to previous patient notes. The conversation remained completely confidential. It was for a maximum of 20 minutes to allow her to speak to as many people as possible.

Mariya added:

I really hope you will find this helpful. It is a terrible time and we must support each other as much as we can. I look forward to speaking with you. Best wishes, stay safe and take care,

Aniridia Network is extremely grateful to Dr Moosajee for so kindly offering her time and expertise in this way to help people affected by aniridia.

Please let us know what you think of this initiative and what else we can do to help during the COVID-19 crisis.

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Insecurity and aniridia

Two things taught Fern about insecurity – being blind due to aniridia and online dating. Watch her amazing TEDx talk.

From denying her disability entirely to learning that she didn’t have to fully accept being blind to reveal it to others. Fern challenges the idea that total acceptance of oneself is necessary for others to accept us and explains that self-acceptance is not a moment of enlightenment, but a lifelong rollercoaster ride. Fern Lulham is a captivating, inspirational and vibrant motivational speaker. She speaks with honesty and passion, covering topics such as self-confidence, self-worth, the power of communication, working together and the importance of sharing our emotional experiences.

Fern has a unique, upbeat and entertaining style that resonates with all audiences. Talking from her own experience, Fern can reach out and touch every single person. She believes strongly in altering perspectives and encouraging value and belief in ourselves.

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Sleep and visual impairment health study

city skyline and sunsetParticipants are wanted for a study into the association between vision impairment and sleep, health, and wellbeing. The researchers are keen to identify the effects of different conditions including aniridia.

Many people with aniridia experience sleep issues which may be related to having hypoplasia, and other anomalies such as with the pineal and pituitary glands.

Sleep and biological daily (circadian) rhythms are essential to maintaining the healthy balance and functioning of the mind and body. Our master internal circadian clock coordinates our body’s daily physiological and behavioural cycles to the Earth’s solar day. This includes daytime alertness and sleep timing, to synchronization of changes in hormone secretion, to fluctuations in mood and cognitive ability.

The researchers are based in Oxford and want to hear from people with visual impairments from around the UK.

Find out more about the research and take the survey that forms its first part. Make sure you highlight that you have aniridia in your answers.

 

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Rare Disease Day 2020 Meetup

Rare Disease Day is always a very good opportunity to bring people together and raise further awareness of aniridia.

People around a bar table

To mark the occasion, trustee Eleanor Burke hosted an aniridia meetup at Wynn’s Hotel in Dublin on Saturday 29 February 2020, from 3pm-6pm.

Despite the very stormy wet weather there were a total of eight people 4 with aniridia. Jill came with her son Stephen, Marty came with his mum and Finton came too. .

Eleanor with Aniridia Day merchandise

Eleanor

The event was free and included a non-alcoholic welcome drink.

Anyone affected by aniridia was welcome to attend, including patients, parents, children and professionals. As proven by the most recent gatherings in Scotland & London, our meetups are a wonderful opportunity for people to share experiences, get supportive advice and make new friends, so please do join us!

If you would like to organise a meetup in your area, then you are more than welcome to do so, and indeed we encourage it. Email meetup@aniridia.org.uk to let us know when and where it will take place, and we’ll help you to promote it.

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Testing if drugs can improve cornea regeneration

KatieBy researcher Martin Collinson

Aniridia, caused by mutation in the so-called eye ‘master regulator gene’, PAX6, can impact on vision in several ways. In addition to the absence or near-absence of the iris, people with aniridia are at high risk of cataract (cloudy lenses) and glaucoma.

One of the most intractable problems however is the deterioration of the front surface of the eye, the cornea, which can occur over time, leading to inflammation, opacity and irritation. Conventionally, this corneal deterioration (‘aniridia-related keratopathy’ or ARK) is treated as a failure of the stem cells that maintain the corneal epithelial
surface, and transplant of stem cells can improve vision, at least for a while.

However, there is a lot more going on: the corneal surface of people with aniridia is typically more fragile than found in the general population. Not only is it more likely to suffer small recurrent abrasions, it is also slower at repairing wounds, and metabolically slightly less able to respond to environmental stress. Corneas have fantastic powers of regeneration, but this ‘triple-whammy’ means that over time, the corneas of people with aniridia do tend to deteriorate, and there is no cure.

Typically, people with aniridia have only one functional copy of the PAX6 gene in every cell, instead of the normal two. The other copy has picked up a mutation that stops it from producing a functional protein, and of course these mutant genes can run in families. The mutations mean that cells in people with aniridia are not producing as much PAX6 protein as the eye needs to develop normally.

Recently drugs such as Ataluren and others have been developed and trialled that can
‘rescue’ mutant cells and allow them to produce more normal levels of protein. They show great potential to improve the eye condition in aniridia, but will only ever work for the minority of people who have a particular type of mutation where a single DNA base change ‘stops’ the gene somewhere in the middle. Drugs such as Ataluren allow cells to ignore such mutations, but are not designed to help the majority of people with aniridia who have different mutations, such as for example, the whole gene being missing.

To address this, we are working with researchers such as Professor Daniel Aberdam at INSERM (Paris) and Tel Aviv University. They have screened for new safe drugs that for one reason or other, can increase PAX6 protein levels in human cells that carry aniridia-causing mutations. They found two drugs that in cell culture tests in vitro, can safely raise PAX6 levels in mutant corneal cells, rescue gene expression and help with wound healing. We believe these are very exciting as candidate cures for the corneal problems associated with aniridia.

Fight for Sight have funded us to test whether these drugs can fulfil their promise. The intention is to test them in mice that carry Pax6 mutations equivalent to those found in people, to see if they are a viable oral or topical (i.e. eyedrops) therapy for aniridia. The Pax6 mice are perfectly healthy and live normal ‘lab mouse’ lives, but show the iris, lens and corneal problems associated with human aniridia. They therefore have relatively poor eyesight, and the idea of the project is to test whether these drugs can improve their vision. If it works on mice, there is good reason to think it will work on people too. It is a twelve-month project and so we hope to be able to report results by the end of 2020.

It is not intended that the drugs will make the iris grow back or give everyone with aniridia perfect eyesight – that’s a battle for another day. However, we are very optimistic that we will be able to ameliorate the corneal problems that can be an important component of the vision loss associated with aniridia, and a persistent irritation to people affected.

While a cure for aniridia is probably a long way off, there is hope that significant improvement of vision will become routine in the medium term.

Man pointing at projection showing a large eye

Martin Collinson presenting

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