Research into aniridia symptoms link to genetics

Woman wearing a white coats in a laboratory

Dr Mariya Moosajee

Research has begun into whether the severity of aniridia can be linked to variations in genetics. The scientists need patients to take part.

Dr Moosajee has been given money from the UCL Therapeutic Acceleration Award to
document the medical history of 150-200 Moorfields Eye Hospital aniridia patients. Understanding this will help identify reliable outcome measures for clinical trials, and which patients may be more suitable for certain treatments.

There is a great deal of variability between aniridia patients. Some are severely affected by corneal clouding from childhood requiring corneal grafts, while others maintain clear corneas and good vision into adulthood.

Aniridia can be caused by many different types of defect in the PAX6 gene as well as other genes. Dr Moosajee wants to identify if there is a link between the genetics and the severity of aniridia, plus what would be the best management and treatment for each patient.

For example, she wants to investigate the link between anirdia and diabetes and weight.

The PAX6 gene is thought to be involved in the development of the pancreas during pregnancy, and there have been increased reports of diabetes and obesity amongst aniridia patients.

She will be taking blood from 25 aniridia patients and looking at all the contents of the blood such as fats, sugar, protein, carbohydrates, vitamins. She hopes to find evidence for or against the anecdotes, and potentially identify a way to use blood samples to monitor the effects of taking a drug like ataluren orally.

This project is in addition to Dr Moosajee’s research part-funded by Aniridia Network into the growth of eyes with aniridia and possible drug treatments. She said

“I feel like there is a spotlight on aniridia-related research and I am very grateful for all the funding and support I have received to expand our knowledge boundaries by adding to our understanding of the condition, whilst also supporting therapeutic developments so they reach the patient as soon as possible.”

Dr Moosajee would be very grateful if Aniridia Network members could take part in the studies. She is particularly looking for patients with nonsense mutations in the PAX6 gene.

If you are already a patient at Moorfields she will be in touch with you.

If you are not a patient at Moorfields:

  • If you have a genetic testing result that says you have a nonsense PAX6 mutation, or you are unsure what type it is, contact her at m.moosajee@nhs.net
  • If you have not had a genetic test ask your GP to refer you to Dr Mariya Moosajee, Department of Genetics at Moorfields Eye Hospital, and she can arrange it.

Dr Moosajee sits on the scientific committee for the European Aniridia Conference 2020 taking place in London. She is looking forward to giving us an update about all the great research she is undertaking at that event.

Man pointing at projection showing a large eye

 

 

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Celebrating Difference book crowdfunder

Toddler with doll. Celebrating Difference. A rare disease journeyA crowdfunding campaign is underway to publish a book featuring children with rare conditions, including two with WAGR 11p Deletion Syndrome.

Give the book your support and get a copy.

The proposed book is the result of a photography project called Same But Different by Ceridwen Hughes. In recent years she has produced a beautiful website of words and pictures with the emphasis on the children, bringing out their personality and positivity rather than simply focusing on their conditions.

Following promotion by Aniridia Network in 2015, Faith and Mari who have WAGR were photographed and depicted on the website. They will appear in the book too, if it gets enough pledges of funding from by people like you.

The Kickstarter campaign’s goal is to fund the publishing of a large scale, hardcover, coffee table book titled, ‘Celebrating Difference – a rare disease journey’. It will consist of the children’s photos and stories on the website and many more not previously published. It aims to make people more aware of what it means to be affected by a rare disease whilst giving such people a stronger voice in the community.

“Using powerful portraits to capture the person behind the condition and sharing as many stories as possible, we can make people think and look beyond their first impression.  The joy and happiness of each child shines through whilst their families discuss their own personal rare disease experience.”

Get more details and give your support at on the Celebrating Difference Kickstarter page.

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Our soapy gift to volunteers

12 soap bottles lined up like 10 pins

We’ve said thank you for the great efforts of our volunteers by giving them soap. We also sold some to members to raise money. There’s a nice little story behind this oddity.

The liquid hand soap is made by visually impaired people in East London as part of the brilliant social enterprise called Clarity. They supply John Lewis and Fortnum and Mason among other stores.

James at Clarity

James outside the Clarity factory

They recently, very generously offered fellow charities free boxes of their product, when technical issues meant it could not be sold. Trustee James claimed one since Clarity is based close to his home.

The 12 bottles inside turned out to be unlabeled. So we appealed for a designer to create our own. Gavin who runs Foxy Design Studio volunteered because of his family link to a child with aniridia.

After a few iterations, he created a lovely design featuring a black iris flower making the link between the floral scented soap and aniridia! The label on the back contains all the required details of the soap plus acknowledgement top Clarify for the kind gift.

12 bottles in a cardboard box, two on top showing the front and back labelsHe then found out about producing waterproof labels and used his own money to pay for them to be printed. Thank you Gavin!

Once another volunteer, Zoe, had stuck the labels on the bottles it was time to take them to Conference 2019 in Birmingham.

During the charity’s annual general meeting the official’s presented their annual reports. When it came to acknowledging the excellent efforts of those who had helped during the year, James recounted the story above. He then handed out a bottle of soap to each of the volunteers who were there as a present. They were very surprised and pleased with the gesture.

Fortuitously it was also the start of Volunteers’ Week, a chance to celebrate the fantastic contributions millions of volunteers make to organisations across the UK.

A big thank you to Clarity and everyone involved in this little project. Our ongoing immense gratitude to anyone who gives their time and skills to making Aniridia Network a success.

Aniridia Network logo, black iris flower, Hand wash, Clarity logoBack label, details below

Back label contents

Ingredients:
Aqua (Water), Sodium Laureth Sulfate, Sodium Chloride, Cocamide DEA, Glycerin, Alcohol Denat, Parfum (Fragrance with Natural Oils)*, Limonene*, Aloe Barbadensis Leaf Juice (Aloe Vera), Potassium Sorbate, Sodium Benzoate, Citric Acid Benzyl Alcohol, Methylchloroisothiazolinone and Methylisothiazolinone Melaleuca Alternifolia (Tea Tree) Leaf oil*, Panthenol (Provitamin B5)

*- a natural component of essential oils

WIth:

  • Vitamin B5 for hydration and regeneration
  • Aloe Vera extract
  • Tea tree oil
  • No artificial colour
  • Suitable for vegans
  • Paraben free

Kindly donated by Clarity
Clarity Employment for Blind People is a registered charity number 210794 and one of the UK’s foremost social enterprises, employing training and supporting people with disabilities to creating-quality toiletries, soap and cleaning products.

  • Aniridia Network logo and charity details
  • Twitter logo: AniriidaNetUK
  • Facebook logo: AniridiaNetworkUK
  • Recycle emblem
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Aniridia Day 21 June 2019

On this year’s day for improving understanding of aniridia around the world, we want you to focus on possibilities:

  1. tell everyone what it is possible to do with a visual impairment
  2. come together to show there are similar people nearby
  3. fundraise and volunteer to enable us to hold a massive event next year

Whatever you do, do it in style: go online to order branded clothing and other merchandise from the new Aniridia Day shop or Aniridia Network shop. All sales raise money for science on aniridia.

Baseball cap with Aniridia Day logo on white with black peak and sidesT-shirt with aniridia logo, white with navy sleaves and collarMessenger bag with Aniridia Day logo

#CanDoWithAniridia

Woman rock climbing

What Jessica #CanDoWithAniridia

On social media on Friday 21 June, share a photo/video with an explanation that shows what can be done as a job, hobby, sport or education – while living with aniridia.

Tag your Twitter/Instagram/Facebook posts with: #CanDoWithAniridia and @AniridiaDay
On Facebook: join and post in the public Aniridia Day group.

Like, comment on and share what others post too.

Meeting up

Gathering with others living with aniridia is lots of fun. Take the initiative: tell us when and where Aniridia Network members should go to chat with you and we’ll advertise it to those nearby.

Ideally events take place on Aniridia Day but other dates are good too.

The following meet-ups have already been arranged, please go along or organise one of your own:

5 people with aniridia around a pub table

London meet-up on Aniridia Day 2018

Fundraising

Aniridia Network is hosting the European Aniridia Conference 2020 in London.

It will bring together the world’s top aniridia doctors and researchers to improve treatments. The benefits will be felt by all patients worldwide, through the impact of clinical guidelines, scientific articles, and research projects.

We urgently need £40,000 to make it possible to bring together world top aniridia doctors and researchers to improve treatments.. Please do something to help reach that target such as:

Volunteer

There are many possible ways to give practical help to Aniridia Network. Please consider the skills you currently have or would like to develop that would be useful. Contact us to discuss how to you can be involved.

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2019 Annual General Meeting

The Annual General Meeting of Aniridia Network, a charitable incorporated organisation was 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
    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
    • Sarah Matthews.
  6. Any other business.

By order of the Trustee Board

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

The AGM 2019 was a session at Conference 2019. Members could come to the AGM for free but to attend other sessions the conference ticket fee had to be paid.

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.

Sarah Matthews

I have lived with aniridia for over 50 years and am the mother of 2 children who have
inherited aniridia from me. For me, aniridia is an important integral part of who I am which I now embrace. I embrace it because it has positively contributed to me becoming
the strong, resillent, independent, super problem solving and some might say bolshie! (but I prefer wilful, persistent and determined) person I am today. I am a social worker by trade, so understand well how to support people to attain their rights and entitlements. I have worked in management roles in the voluntary sector for 14 years, the last 8 of which have been in business development roles securing significant funding for charities.

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.

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Annual Report 2018-19

Two woman sitting with backs to the camera. One is wearing a Aniridia Network t-shirt. Other conference delegates are in the background.

Read details of what our officials did and our finances between last April 2018 this March in the Aniridia Network Annual Reports for 2018/19.

In summary, thanks to great efforts by the team, Aniridia Network has a had a good year:

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 was received at the charity’s Annual General Meeting 2019

If you have any questions or comments please get in touch.

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Dave’s trustee nomination

Dave McKay

Dave McKay has nominated himself to be a trustee of the Aniridia Network. There will be an election for him and any other nomintees at the Annual General Meeting on 1 June.

Dave has been our Conference Officer for the past two years. He now wants to step up to join the board that runs the charity.

In his nomination, he wrote:

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.

Emily Nash and Martin Flemming are both standing down as trustees this year. We are very thankful for everything they have done.

This means there will be two vacancies on the trustee board. They currently lead on finance, fundraising and volunteering. They will leave a bit gap so we badly need more people to volunteer either as a trustee or official. It’s a great opportunity to make a difference and learn new skills. Read more about the role of a trustee. If you have any interest in the role and what to discuss it, please get in touch.

You can fill in the nomination form and hand it to a current trustee in person or to email it to info@aniridia.org.uk before the Annual General Meeting begins.

James Presentating 2018 2

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Cornea Connect 2019

Dr Alice Davidson introducing the day

#CorneaConnect was a fantastic day discussing aniridia with medical researchers and patients at UCL Institute of Ophthalmology and Moorfields Eye Hospital.

It aimed to bring aniridia patients together with scientists and clinicians in the Cells For Sight team, to learn about cornea research and discuss experiences of sight loss.

This is important because corneal opacification often affects people with aniridia, due to deficiencies in the eye’s limbal stem cells.

First Sajjad Ahmad spoke about their planned trials to transplant Limbal stem cells on a ‘raft’ to aid their survival and growth on the eyes of people with aniridia, beyond the 3 years typically observed.

Carla then talked about her PhD project studying the growth of stroma cells with and without aniridia (PAX6 gene) to understand the effect on cornea disease.

Georgina gave a super talk about her life growing up with aniridia having 23 operations and now a daughter with the condition too.

In the afternoon the researchers put on an interactive session demonstrating the research being done and how it carried out in laboratories.

There was also a focus group session to talk about the question “What do patients think should be researched in relation to aniridia?”.

Georgina said afterwards:

“I had never met anyone else with aniridia, didn’t even know how to spell it.

Since my daughter was born in 2013 I started to do some research. I learnt about Blind Mums Connect group on Facebook and after 3 years found someone with aniridia. They told me about Aniridia Network. From them I heard about this event and booked onto it straight away.

It was very interesting. I learned a lot more about aniridia, how it can affect people differently and the research they are doing on the cells that cause the problem on the front of the eye.

I am so pleased I went as I met 3 other people with aniridia and it gave me such a boost that I wasn’t the only one in the country. It was just brilliant to talk to someone who had the condition and could understand how I felt.

When I got home I was buzzing. The next day I woke up with a real spring in my step and on the way to school my daughter and I played tag with out cane (don’t tell the mobility trainers). 

It has meant so much to me too finally meet some others with aniridia that I can’t really put it into words, but can’t wait to start helping them out and hopefully bring more awareness and get more research done. “

5 members of Aniridia Network attended the day and several previously attended the 2014 event.

More photos from Cornea Connect 2019

Agenda

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£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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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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