We've raised over 100k over the last few years to support the critical Aniridia Research under Dr Julie Daniels and her team at Moorfields. We hope that this pioneering research will protect our daughter's eye health and others with Aniridia and one day enable her to regain some useful vision. http://www.cureaniridia.co.uk/press-release
This is the ultimate Prudential Ride London 100 this year for the sight saving research at Moorfields Eye Hospital conducted by Dr Julie Daniels and her team for the Fairy Queen.
Ella is the inspiration - a little girl who lost her sight last year following 5 major eye surgeries to try and prevent this. Suddenly being thrust into a world of unknowns and darkness, she has come back fighting again and is going from strength to strength - thank you for your continued support.
Ella is 8 years old and has been through enormous difficulties medically and faced each one with the strength of a thousand men. She thanks you for supporting this ride and the amazing team of riders behind her who have selflessly committed to raise funds that one day may enable her to have useful vision again and those in her shoes.
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.
Thank you for being Ella's 'together' and supporting her and her friends from the bottom of our hearts.