Aniridia is a rare eye condition in which the iris – the coloured part of the eye – is missing or underdeveloped. Because the iris controls how much light enters the eye through the pupil, its absence can lead to serious vision problems such as cataracts and glaucoma, which worsen over time. The condition, which is often caused by mutations in the PAX6 gene, affects around 1 in 80,000 people. While there’s no cure, promising treatments such as stem cell and gene therapies are on the horizon.
The COST Action Aniridia: networking to address an unmet medical, scientific, and societal challenge (ANIRIDIA-NET) was launched back in April 2019 and aimed to turn these hopes into reality by raising awareness and promoting innovative research to improve the lives and vision of those affected.
Inspired by the success of a previous COST Action led by Prof. Cursiefen, ‘Joining Forces in Corneal Regeneration Research‘, which created a strong European network in corneal research, Prof. Neil Lagali of Linköping University saw an opportunity to build on this momentum. “Our research focus shifted to aniridia, a rare eye disease that affects every part of the eye and overlaps with many of our existing interests such as inflammation, stem cells and nerve regeneration. In many ways, aniridia was a ‘model disease’, representing one of the most difficult challenges in ophthalmology, but one that was relatively unknown and under-researched. So we thought it was an ideal topic for a COST Action,” explains Prof. Lagali, Chair of ANIRIDIA-NET.
The Action has achieved many successes that benefit people with aniridia. Scientifically, it has resulted in more than 30 publications. But beyond the science, there are several other unique contributions. One major achievement is the largest-ever pan-European survey of people with aniridia, completed by 300 participants from 15 countries. (The survey is available here and a resulting paper on patient-reported experiences with congenital aniridia is available here). This survey, says Professor Neil Lagali, “serves as an important reference and advocacy tool for patients and families, the medical community and researchers“.
In addition, ANIRIDIA-NET has completed and prepared for publication the first-ever comprehensive narrative review of aniridia, based on comprehensive interviews with adults, children and carers. This review “documents for the first time the lived experience of people with aniridia, including their stories, challenges, experiences and hopes, told in their own words and analysed using the tools of narrative medicine,” explains Neil.
Following a call for contributions from young artists, the Action produced desk calendars with pictures and drawings made by children on the theme of ‘living with aniridia’. Shared across Europe and North America, these calendars have motivated researchers every day, inspiring them to continue their efforts to improve knowledge and develop new treatments for aniridia.
Finally, “because the condition is congenital”, says Neil, “many young children do not understand their condition, what it means, and are unaware of the research being done to improve the lives of people with aniridia. For these reasons, ANIRIDIA-NET has produced a comic book specifically for carers to read with children, providing explanations and information in a fun and engaging story format”. The comic book has been translated into over 10 languages, and it’s also available as a book without text to enable writing in other languages.
Teamwork makes the dream work
An important scientific collaboration has been established around cellular and biological models of aniridia. Before ANIRIDIA-NET, these models were isolated in different laboratories around the world. The Action mobilised European and international partners to share these models, allowing specialised experiments and methods to be carried out in the countries with the most expertise. Prof. Lagali stressed: “These collaborations led to the creation of a robust scientific network that continues to produce high-impact research“.
This network has continued to thrive beyond the Action, producing publications and advancing our understanding of the cellular and molecular mechanisms of aniridia.
ANIRIDIA-NET has ensured the future of the network by prioritising young participants in the Action. By involving them in leadership roles, training schools and international conference grants, the Action has empowered young scientists and clinicians. Young researchers’ contributions to high-profile publications and Short-Term Scientific Missions (STSMs) have enhanced their professional development, ensuring the continuity and advancement of aniridia research.
ANIRIDIA-NET has led to some exciting follow-up projects and initiatives. The first is a €1.4 million project funded by the European Joint Programme for Rare Diseases, in which six members of the Action are involved. The second is RESTORE VISION, an €8 million Horizon Europe project with eight members focusing on targeted therapies for rare eye diseases. In addition, ANIRIDIA-NET has fostered closer links between the patient association Aniridia Europe and Aniridia North America, leading to fruitful dialogue and collaboration.
The networking within ANIRIDIA-NET has paved the way for practical applications in healthcare. By sharing data, cells and disease models, the network has demonstrated the potential of repurposed drugs to target the biochemical factors that cause eye complications in aniridia. This has led to preparations for first-in-human clinical trials of at least two drugs supported by ANIRIDIA-NET research. In addition, the development of pan-European guidelines for the medical and social management of aniridia will soon provide healthcare professionals with the latest evidence-based recommendations – crucial for a rare disease where expertise is limited.
“A family with a young child with aniridia expressed their extreme gratitude that we have assembled a critical mass of experts to promote research in this rare disease, giving them hope that one day their child and many other children with the disease will be able to live normal lives.”
Prof. Neil Lagali, Chair of ANIRIDIA-NET
