The Aniridia Europe Community Meeting took place on 3rd June 2022 in San Juan de Alicante, Spain, in the framework the 6th European Aniridia Conference.

The meeting was attended by a large majority of Aniridia Europe’s members, and by the welcomed guests of ANA – Aniridia North America and IWSA – International WAGR Syndrome Association.

All the national representatives had the opportunity to talk about the aniridia situation in their respective countries, their challenges, their activities, and their plans for the future. We realized that it is very important to learn from our fellow aniridia communities in other countries and that we can get inspiration from their activities to improve our own plans and to better support individuals and families. We heard presentations from Bulgaria, France, Germany, Italy, Lithuania, Norway, Romania, Russia, Spain, Sweden and the United Kingdom.

The President of Aniridia Europe, Barbara Poli, after retracing the history of the European collaboration in the last two decades, focused on the most recent achievements: participation to social and scientific research projects, valuable partnerships with European and international organisations, and in the last two years a strong effort in the digital communication, that produced a series of scientific webinars in collaboration with the COST Action Aniridia-Net, a dedicated website for the European Aniridia Conferences and the update of Aniridia Europe’s website.
Looking at the future, Aniridia Europe can count on some “strengths” (the national associations, its wonderful volunteers, its good reputation) but faces some “weaknesses” (mostly the lack of financial and human resources). The outer environment gives “opportunities” (the participation to EU projects and to the ERN-EYE, and the partnership with Eurordis and ANA) but it also presents “threats” (the international situation, the risk of a decreased interest in rare diseases, and the irrefutable fact that aniridia is only one among thousands of rare diseases). Read the presentation here.

The second part of the meeting was dedicated to the workshop: The power of patient driven research – how do we join forces to give best support to research, in terms of input to ongoing projects, filling in the gaps and identifying new areas where research is needed?
The workshop was guided by Ognian Petkov and Ivana Kildsgaard, and allowed a wide exchange of experiences and opinions among the participants.
The starting point was the consideration that, in the research field, where there is a strong competition for funds, aniridia for patients is life, while for professionals it is work: therefore, how can we make these two worlds meet?

A number of interesting ideas emerged from the discussion:

  • the European Aniridia Conferences are a great opportunity for scientists as they can meet each other and above all the carriers, that they usually do not meet in other congresses. In general, it is important to invite doctors to the seminars and meetings organised by the patient associations and to promote a constant exchange, as this can be useful for both parties and doctors can get useful insights on what is really needed. A very interesting example was presented about kidney’s echo to prevent Wilms tumour: some doctors assumed that it could be useful for families to undergo less examinations to make their life less complicated, but they discovered that the families thought exactly the opposite. Which means that, when patients are informed and aware, they can offer good inputs to professionals on what is really important;
  • it was emphasized that aniridia requires also investigation in other fields, such as brain, metabolic issues, psychological condition, and that these topics should be systematically included next to the ophthalmological conditions in all studies;
  • it was noted that we are missing an important partner, that is, the pharmaceutical companies, and we should try to bring them on board. In fact, considering the needs of drugs for eye dryness, glaucoma, corneal keratopathy, inflammation, infections and pain expressed by the patients, it would be very important to dialogue with the pharmaceutical companies and to organise informative meetings on the drugs together with the doctors;
  • a key point is considered the involvement of more researchers, and in this perspective the development of an international patient registry could be an important achievement, as it would make easier for scientist to have more data and to perform research across the borders
  • if there is the possibility to establish a prize, it should be directed to the topic we believe can have the higher impact;
  • a very important issue is the engagement of patients: it was noted by many participants that this is not very easy, as people quite often either expect answers from the associations (and are disappointed when these answers are not quick), or prefer not to engage as they do not see an immediate benefit for their life. Participants agreed that associations should educate families and patients to understand why engagement matters by showing them what has been achieved during the last twenty years and underlining that good results can only come when you work for them with determination and continuity. And when we invite patients to talk in meetings with scientists, we should train them in setting the right content objectives and in reaching an adequate level of expression.
  • finally, it is considered important to state that aniridia does not represent the person with aniridia, and that a person cannot be identified with his/her disease, as there are a lot of other features that contribute to define a human being, and we should always be aware of this in our activities and documents, at the European and national level.