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:
- What are the early effects on the developing ‘optic cup’ especially on the retina?
- 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.