£200,000 aniridia drug research, based and funded in the UK underway

Two women in a laboratory surrounded by labelled bottles

Mariya and Dulce

Research into the growth of eyes with aniridia has begun, funded by Aniridia Network and two families in the UK.

In 2018, for the first time, Aniridia Network excitedly partnered with Fight for Sight to offer a £15,000 grant for investigations into aniridia. We evaluated five excellent applications from top doctors around the UK. We picked one that would take place at UCL Institute of Ophthalmology, which works closely with Moorfields Eye Hospital.

Meanwhile, exceedingly generous donations totalling close to £190,000 had been made by 2 sets of parents of children with aniridia to Moorfields Eye Charity. These were to fund 18-months of research by Dr Moosajee to identify new treatments for aniridia.

Using this combined money Dr Moosajee began a project at the start of 2019. She brought on board Dr Dulce Cunha, a post-doctoral research associate with a PhD in stem cell biology.

In their laboratory, they will grow cells for up to 17 weeks to make 3D model eyes. These will start with skin samples taken from people with aniridia. The stem cells will, therefore, lack a protein that normally results from the PAX6 gene which is often defective in people with aniridia.  Other models will be grown from cells that have normal PAX6 genes.

This will allow them to answer questions such as:

  1. What are the early effects on the developing ‘optic cup’ especially on the retina?
  2. Can a drug called amlexanox be used to cause the PAX6 protein to be created and what effect will that have?

Amlexanox is a drug similar to ataluren on which exciting trials are currently taking place in North America.

Dr Moosajee said

“the study will advance our understanding of PAX6 in early eye development, exploring its effect on retinal differentiation, eye growth and gene expression patterns. Plus it will provide proof-of-concept of amlexanox as a treatment for nonsense-mediated aniridia.
The results will add knowledge and make possible further investigations into other aniridia-related human ocular tissues. If successful, we will endeavour to repurpose amlexanox for aniridia and apply for further funding.”

She has taken two skin biopsies from aniridia patients and their skin is now growing in the lab; Dulce is currently converting these skin cells into stem cells so she can then grow them into early eyes.

Dr Cunha said,

“I am so excited by this project and can’t wait to see if the small molecule drugs work on the patient cell models.”

When the research is complete, the findings will be disseminated to Aniridia Network members and the scientific community by being published in peer-reviewed open access journals.

Dr Moosajee is also looking forward to reporting on all the great research she is doing, at the European Aniridia Conference 2020 in London.

She noted that medical projects require a lot of money, typically £180-250,000. Without the large donations from the parents, she would not have had the opportunity to apply for the supplementary grant.

Trustee James Buller said

“On behalf of everyone living with aniridia around the world, Aniridia Network says thank you for your incredibly kind gift that made this research possible.”

The grant process was expertly administered by Fight For Sight. The research met their priority for “Developing and testing new and more effective treatments, such as cell-based, gene or drug therapies or improving surgical procedures for a range of different eye diseases and conditions.”

Giving the grant meets the mission of Aniridia Network to “promote research into the causes, effects, treatment and management of aniridia and related conditions and publicising the results.”

The £15,000 was a combination of £7,500 each from Aniridia Network and Fight For Sight. It came from fundraising income from fundraising events and sponsored feats, donations and commissions such as Give As You Live or Amazon Smile. Both charities can only make more vital grants like this with your continued support.

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Summer Cycling Fundraiser

Rhiannon wearing a wooly hat with large colourful bobbles by each ear and on the top.Teresa & Vaughan Kay, along with their friends Thomas Thorpe & Vicky Grimmer, have challenged themselves to a summer of fundraising, by taking part in 4 big cycling events. And half of all the money raised will go to the Aniridia Network.

They’re doing it for their daughter Rhiannon. She has aniridia, nystagmus and cataracts, and is a “happy, smiley, chatty little girl”. She also loves her regular music sessions, where she has made many friends who are also visually impaired.

Teresa & Vaughan attended our conference last year, where they met others with aniridia for the very first time and enjoyed the various speeches. We also helped them compile a “Pupil Passport”, to help teachers and other care-givers understand Rhiannon’s condition and support needs.

Rhiannon smiling as she rides a pink bike.So we are very grateful they have been inspired to fundraise for us this year. They will be taking part in the following cycling events:

  • 5th May 2019 – Tour De Broads Spring, 100 miles
  • 7th July 2019 – Norwich Cycle Swarm, 70 miles
  • 18th August 2019 – Tour De Broads Summer, 100 miles
  • 5-6 October 2019 – Dusk til Dawn 12 hour Mountain Bike Night Race

Please support them if you can. We wish them all the very best of luck!

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WAGR & Pain Perception Research

The following is a transcription of a news release by IWSA (International WAGR Syndrome Association).

Research In WAGR Syndrome Patients Shows Importance of BDNF Gene In Pain Perception

Research published in the February 2019 issue of the journal, PAIN, has important implications for individuals with WAGR syndrome, and could also lead researchers to new methods for controlling pain.

The report details findings from the National Institutes of Health (NIH) Study of Aniridia, WAGR syndrome, and 11p Deletions. In that study, which spanned 2006-2014, researchers noted that some parents of patients with WAGR syndrome reported that their children appeared to have severely impaired ability to feel pain. They reported that significant injuries and even broken bones often went unnoticed.

Sensory testing revealed that patients with WAGR syndrome who had both copies of the brain-derived neurotrophic factor (BDNF) gene had normal/expected levels of sensitivity to pain. But patients with WAGR syndrome who were missing one copy of the BDNF gene had a “strong reduction” in their ability to sense pain.

These study results are important because approximately fifty percent of WAGR syndrome individuals are missing the BDNF gene. Decreased ability to feel pain puts them at risk for delays in diagnosis and treatment of medical conditions. Awareness of this feature and close monitoring of symptoms may help parents and physicians to safeguard the health of patients with WAGR/BDNF gene deletion

This research is also exciting because it offers new insight into how pain circuits function in humans. This insight could lead to new types of medications and new ways to manage pain.

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Notice of 2019 Annual General Meeting

Notice is hereby given to members that the Annual General Meeting of Aniridia Network, a charitable incorporated organisation will be held at: 138, Digbeth, Birmingham, B5 6DR on 1 June 2019 at 10:40am to transact the following business below in accordance with our governing document.

Agenda

  1. People at tables watching a speaker at a podium and others seated as a panelAniridia Network Annual General Meeting 2018 minutes to be agreed
  2. Matters arising.
  3. Reports & Accounts (tba)
    To receive and consider the accounts for the financial year ending 2019 and the reports of the charity trustees
  4. Resolutions.
    1. Membership scheme/Governance model
      A vote on whether to pursue amending the Aniridia Network constitution to:

      1. Limit voting membership, OR
      2. Change to a trust where there are no voting members and governance lies with the Trustee Board.
    2. Any other resolutions proposed
  5. Appointment of charity trustees
    To appoint the following (tbc) as trustees until the 3rd AGM after this one,  subject to the compulsory retirement of 1/3 of trustees by rotation at each AGM as described in the charity’s governing document:

    • Dave McKay
    • and others who may be nominated (see below).
  6. Any other business.

By order of the Trustee Board

Proposed resolutions should be emailed to the trustees by 10am on 28 May 2019

The AGM 2019 will be a session at Conference 2019. Members may come to the AGM for free but to attend other sessions the conference ticket fee must be paid.

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

Dave McKay

I am a good communicator with good verbal and written, problem-solving,
organising and leadership skills as well as being a team player with the ability to use
my own initiative. I believe in fairness,  respect, and equality for all. I have experience of working in a highly regulated corporate environment and understand the need to adhere to both external and internal regulations, having worked in the financial/banking sector for over 10 years. I have an outgoing yet professional personality, enthusiasum and a willingness to learn and self-develop, I have been described as a responsible, caring, understanding, supportive and friendly person who is willing to help others achieve success, independence and confidence both in their professional and personal lives. I have interests in public transport, theatre, cooking, walking and cycling. I will bring all this and more to the position of trustee and Aniridia Network leadership team.

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Cornea Connect 2019

The UCL Institute of Ophthalmology in London is inviting patients with aniridia to meet scientists, learn about research and discuss their experiences at Cornea Connect 2019, taking place on Monday 20th May.

The day will begin with talks from researchers and clinicians, and also any individuals who would be happy to offer a patient perspective. There will then be an interactive session demonstrating some of the work being done by the researchers, as well as smaller focus group sessions.

This event is important because corneal opacification affects people with aniridia, due to deficiencies in the eye’s limbal stem cells. So this is a great opportunity to meet scientists and discuss important issues relating to corneal research.

Several members of the Aniridia Network previously attended the 2014 event, which was a great success.

There are only 10 places available so please book as soon as possible to avoid disappointment. The event is for over-16s only. Once registered, you will be contacted to ask if you have any special access requirements.

If you require further information about the event, please contact Ashkon Seyed-Safi at ashkonsafi@hotmail.co.uk or call 020 7608 6996.

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Graham’s story of life with aniridia and stem cell treatment

Graham has written a blog post about growing up in the UK with aniridia and losing sight due to glaucoma/cataracts.

He also writes about the recent initial success at restoring some sight by transplanting stem cells that began in his mouth, on to his cornea. He says “the eye is getting better every day”.

This operation was performed by Samer Hamada at Queen Victoria Hospital.

How much improvement there is and how long it lasts will have to be monitored.

Read Graham’s story about life with aniridia and treatment of related conditions.

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Edward’s half marathon fundraiser

Edward wearing his half marathon medal and holding Sabrina, who has aniridia.Edward ran 12 miles in the Vitality Big Half Marathon to raise money for the Aniridia Network. He was inspired to do so by his cousin’s daughter Sabrina, who has aniridia. He says:

“Sabrina is an amazing girl with a genuinely contagious smile, and a very trendy pair of glasses! Sabrina’s condition will never stop her from doing the things she loves, but your donation could go towards something life changing for Sabrina, and put an even bigger smile on her face.”

Edward completed the marathon in 2 hours and 59 seconds, raising £625 (plus £107.50 Gift Aid) for the Aniridia Network, for which we are very grateful. And you can still donate on his JustGiving page.

Thank you to Edward for taking on the challenge for us. It really helps us put on events that bring together scientists seeking better treatments for children like Sabrina.

 

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Scarlett’s sponsored walk

Scarlett and Rachel smiling

Scarlett & Rachel

Rachel’s 3-year-old daughter Scarlett has aniridia. Together they did a sponsored walk at Tiverton Canal Basins in Devon on 3 March, joined by family and friends.

Despite the rain, the walk was a great success, and they raised a fantastic £1198 for Aniridia Network!

Rachel says:

I enjoyed doing it and the awareness raised. I had half the town talking about aniridia & vision impairment who had never heard of it.

Scarlett enjoyed it despite the wet & windy weather. She jumped in every muddy puddle going. She was drenched and we were all very muddy!

And I’m pleased with the amount from the 3 weeks of fundraising. Thanks for all who helped and joined in.

Scarlett looking happy in her dark blue coat and dark glasses as she walks along the muddy path

Scarlett

Scarlett also painted some colourful aniridia rocks for people to find during the walk, as a way of saying thank you to everyone who supported her.

Rachel and Scarlett were also featured in their local newspaper, helping to raise even more awareness of aniridia. And you can still sponsor them to show your appreciation.

Many thanks to both of them for completing the challenge and raising so much money for the Aniridia Network. It’s very much appreciated!

Collage of photos showing rocks decorated in different colours by Scarlett, one saying Aniridia Walk. One photo shows the view along a grass-lined path by the river, and another shows Rachel and Scarlett together.

Scarlett’s painted rocks

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Professors’ Bremond Gignac and Rama message for Rare Disease Day 2019

To mark Rare Disease Day on 28 February 2019, two of the top specialists in Europe, made a commitment to keep researching aniridia.

Thanks to the French aniridia group Geniris for making this video, that we added subtitles to.

Also check out @welleyenever‘s brilliant photo diary, including insights into life with aniridia. It won a competition held for last year’s Rare Disease Day – congratulations. Be sure to check out his many other excellent blog posts too.

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1,000 Miles in 200 Days Fundraiser

1 thousand miles in 200 days. Laura walking while wearing a Aniridia Network tshirtLaura Cartmill has aniridia and autism, which presents challenges for her everyday life. But she hasn’t let her impairments get in the way of her ambition to achieve and inspire.

For example, she plays football at the Torquay United club for people with disabilities, which has helped her confidence to grow tremendously since she joined in 2012.

And now, at the age of 27, she has completed an amazing fundraising challenge to raise money for Aniridia Network.

Laura walked 5 miles a day to clock up 1,000 miles in 200 days. The sponsorship via her Just Giving page brought in nearly £600 for Aniridia Network and similar amounts for 5 other charities.

Laura said

To complete a challenge like this is incredible. I am so proud about doing this and it’s the most amazing thing I have ever done. This whole challenge has been a journey to inspire other people.  It is a special feeling,  if anyone has a goal to achieve just go for it. It can be done, you can do anything that you want to achieve. Do it your own way, anything is possible

The challenge started on 30 July 2018 and ended on 15 February 2019.

Now she is planning to go further:

I will be starting a new challenge on 1 August 2020: 5 thousand miles in 500 days. I will be doing 10 miles everyday by mixing walking and cycling. I am so excited already.

A massive thank you to Laura for doing this for us, and all her donors for their support.

Find out how you too can support Aniridia Network.

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