Cure Aniridia

Shine the light on Aniridia

Press Release
Q&A with Professor Julie T Daniels, PhD, FSB Professor of Regenerative Medicine & Cellular Therapy Director, Moorfields Eye Hospital Cells for Sight Stem Cell Research Unit PDF Print E-mail
Friday, 03 July 2015 12:24


Project Fairy Queen – ‘Developing a human model of aniridia-related keratopathy’

 1. How have the funds raised for Aniridia Research by the Fairy Queen Campaign helped over the last 4 years? (the total is now over 100k)? 

Aniridia presents sight-threatening problems in different parts of the eye due to a mutation in a gene called PAX6. Proper functioning of this gene is vital for eye development and vision.  Some patients develop a condition called aniridia-related keratopathy (ARK).  ARK can develop during late teens or early twenties and results in potentially blinding scarring of the normally transparent cornea on the front of the eye.  This is because the stem cells, which normally maintain the cornea throughout life, are compromised by the PAX6 mutation.

The funds so generously raised for research by everyone who supports Ella and children like her have enabled employment of a post-doctoral researcher.  Our goal has been to create, for the first time, a human tissue model of ARK that we could use to understand the disease better and therefore develop new treatments.  This has been a very difficult challenge!  In the beginning we tried to make non-diseased corneal stem cells, donated for research, behave like ARK cells by attempting to reduce their PAX6 expression.  We had some limited success with this approach and the results hinted at what might be different about ARK cells.

During our very successful Cornea Connect Day last year at the UCL Institute of Ophthalmology, which was attended by members of the Aniridia Network UK, we were able to explain how important it was for our research to obtain precious ARK samples from patients undergoing corneal surgery.  We have since been able to grow cells from donated ARK samples and have confirmed that they do indeed function differently to non-diseased cells.  Recently, this work has been assisted by a MSc student in the lab.  We are currently writing up an aspect of this research for publication.  We are encouraged that our findings might enable a better understanding of ARK and help us in the future to correct the ‘mistakes’ the ARK cells make.  This research would simply not have happened without Project Fairy Queen.

2. What would the proposed raised £10,000 this year help you to do specifically?

Since we began our project, techniques for altering gene expression in stem cells have significantly advanced.  In the next stage of our research our goal will be to use these techniques to generate large numbers of ARK-like human cells.  Then, we will study these cells in our 3D artificial cornea model to find out what goes wrong in ARK and how we may be able to correct it.  We are very fortunate to be able to offer a PhD studentship in this area; however, the molecular biology techniques we will need to use are expensive.  If the proposed £10K could be raised this would allow to make several ‘disease’ cell lines for our research.


3. Are there any new breakthroughs?

Our significant break through has been our ability to grow ARK cells and use them in experiments to mimic aspects of the disease process.  We anticipate that this will lead us towards the development of new treatments for aniridia.


4. For children like Ella who have lost their useful vision, is there hope in the future that science could help?

There is always hope.  Science has delivered many amazing achievements in medicine.  With the technologies becoming available to us, the possibilities for significant advancement in aniridia research and treatment are increasing.  


5. Have you any message for those supporting the FQDT 2015?

To the Fairy Queen Dream Team 2015, I am so very grateful to you all for giving up your time to train, for pestering your family and friends (again in many cases I'm sure) for sponsorship and for participating in such a difficult challenge.  Thank goodness you’re not relying on me for the cycling, but rest assured that after that grueling race we will continue with your spirit and determination in the laboratory to do everything we can to improve the lives of those living with aniridia.


6. How do you link to Aniridia Network UK who we also intend to fund towards with this year's ride?

Members of my research team have raised funds for the Aniridia Network UK through a cake sale morning that was enjoyed by many!  They have also presented their work at the Aniridia Network UK annual meeting and will do so again this year.  This network is extremely valuable in the support of those with aniridia, their families and friends and also to us.  We very grateful for their continued input and support for our research.



The FQDT Ride again - the Ultimate Prudential Ride London 100 August 2015 PDF Print E-mail
Friday, 22 May 2015 12:32

Despite the horrendous rain and weather last year which saw tragedy and success in the race - the FQDT have taken it on again to push the limits and surpass their previous rides.

 Godfather Rich and Dad James meeting legendary Dan Boardman after the event

The truly amazing 2014 FQDT Team!!!!!!!

We wish them ALL the best and thank them for the selfless support towards the critical Aniridia Research at Moorfields Eye Hospital in London.

One day we hope this will enable Ella to have some useful vision again, and protect her eye health until then.

Please show your support for these wonderful people in the FQDT 2015!!!



Racing to support the Fairy Queen from Espana....Barcelona Marathon PDF Print E-mail
Friday, 15 May 2015 00:00

Back in March of this year I set foot on a marathon start line.  That in itself was an amazing feat for me, something that just one year before I would never have even dreamt of.  I was overweight, unfit and stressed. In February 2014 I decided that I needed to start running (pushed out of the door by my wife who was bearing the brunt of most of my stress!).  Running was the obvious answer to these three problems.  I started running on my own, 5 kilometers here, 5 kilometers there, and I soon realized that I was actually enjoying it!!  I was able to do the same route but each time I did it I was going faster, and suffering less!!  Maybe this was my answer to all my problems.  Then came the big test, a whole 10km!!  All I wanted to do was to finish, and in less than an hour if possible!  I stood on the line feeling alone yet surrounded by 24.000 people. “Surely this can’t be so hard” was my thought, and 57:11 minutes later I crossed the line! Euphoria set in. And so did the bug!  I began signing up for 10km races left, right and centre, running and running. It was great.

My stress came down, my weight too and I was getting fit.  I would even go so far as to say fitter than I ever was at school, where I played football, squash and swam at a high level!!  This was good, but I wasn’t sure I was doing it right.  I took the next step and joined some other crazy runners who went out regularly with an ex professional turned shop owner.  Now that was a good idea!!! Motivation from others, advice from people in the know and shared ideas.  Times went tumbling and the fun went up!

In September the distance went up and I did my first ever half marathon.  Again, the target was to finish, if possible under 2 hours.  1 hour 57 minutes later I had crossed the line, this time with tears in my eyes.  That was amazing, “who would have thought that I could run 21km non stop??!!

December came and people started turning their attentions to targets for 2015.  “Barcelona Marathon” “Barcelona Marathon” “Barcelona Marathon” “Barcelona Marathon” The words kept appearing and I couldn’t stop thinking how crazy these people were.  And that was my line of thought, for approximately 2 weeks, then I thought, “Well, why not me too?” and I duly decided to sign up.  Here in Barcelona there is not the same idea as in London, where most of the runners are sponsored, it is simply pay and sign up.

I’ve been living in Barcelona since 1998 but that has not stopped me from thinking like the Brit that I am. I contacted Elly and asked if it would be OK to race to raise money for Shine the Light on Aniridia, and in no time at all I had my Just Giving page set up and running. I have known James and Elly for years now, and Ella since she was born.  Such an amazing fighter deserved some support and I wanted to do the best that I could for her.  We proudly gave her the first pair of sunglasses, and I wanted to help some more. This was the best that I could do.

There then followed 12 weeks of solid training, doing up to and sometimes over 100km a week, with a long run every weekend of 2 hours.  It was not easy, it was cold, sometimes wet, and on many occasions busy with that previously stressful job I have!! Half marathons came and went, times faster and faster, legs stronger and stronger.  And all the time posting statuses on my facebook page reminding my friends and colleagues to sponsor me.  50€, 100€, 200€.  The total was going up as was my strength.  All was looking good.

Finally the big day arrived, Sunday 15th March. There I was, all trained up, and with a buzz in my body that I had never experienced before.  I had read lots about marathons, watched videos, talked non-stop for weeks with anyone who was willing to listen. But nothing could prepare me for that moment I crossed over the start line.  26 miles lay ahead of me, running around the city of Barcelona that has been my home for the last 17 years.  I had never seen it like this before, and to be honest I don’t think I saw that much of it.  It was head down, one foot in front of the other and go for it.

To cut a long story short, 3 hours 44 minutes and 1 second long to be exact, I crossed the line.  I had been expecting to cry from the emotion of finishing a marathon to be honest, but amazingly they stayed back and it was smiles all round.  I had done it.  And I had managed to exceed my sponsorship target of 500€ by 130%.  Brilliant support from my family and friends from England, but also from those in Spain who were not really familiar with the whole sponsorship process.  Usually it was accompanied by the question “why should I pay for you to do the race?”  It took a few laughs and minutes of explanation. 

It was a great experience and one that will be certainly repeated next year.  13th March is already booked up in my calendar!!

I recommend running to all of you. I recommend helping a great cause even more.  Go for it! I even lost 16kg!!