Aniridia Connection! The 9th National meeting of the Italian Aniridia association, October 12th-14th, 2018

Padua, North-East of Italy. An early autumn weekend that seemed rather late summer, for the mild temperature and the blue brightness of the sky. Under the domes and the steeples of the Basilica di Sant’Antonio, Aniridia Italiana held its 9th national meeting, attended by more than 120 people, among which around 60 persons with aniridia.

A meeting entirely dedicated to the creation of contacts and relationships, the transmission of knowledge and experiences, the confrontation between children, young people and adults, families and specialists, to seize all the opportunities offered by the network and to get involved without barriers and shyness; in short, it really was Aniridia Connection!

A great number of activities were offered to the participants;  dinners and free times gave the opportunity to talk in a relaxed and friendly atmosphere. The city of Padua, with its historical centre reserved to pedestrians and rich in art and history provided the ideal setting for walks and talks.

On Saturday morning, specialists took the floor to talk about access to healthcare, genetics of aniridia, clinical management of children and adults with aniridia. The format provided for a short presentation with the purpose to lay out the most important (and often critical) topics and then a lot of time for questions and answers, the questions that parents never have time to ask during medical examinations at the hospital. In the second half of the morning, a full session was dedicated to ophthalmological, physical and cognitive rehabilitation for children with aniridia or WAGR syndrome. All the specialists added to their relevant knowledge and competence a human and empathic approach that was greatly appreciated by the participants.

In the afternoon the focus moved to social inclusion, from school and University to sports and physical activities. We had an open discussion on the criticalities and opportunities at school and university, where all the participants brought their personal contribution and asked each other difficult questions, to find together some possible, realistic answers. Then we could listen to the voices of great champions, such as Gianmaria Dal Maistro, gold and silver medal, paralympic, world and national alpine ski athlete, and Veronica Tartaglia, national champion in fencing. Andrea Bellé, physical education trainer and expert, involved the participants in tough and tricky (and sometimes funny!) physical activities in order to make people understand the importance of being in good shape. In people with visual impairment, having a good coordination and balance control can improve mobility a lot and avoid serious risks.

Saturday was also the day of the Youth Programme, a parallel session dedicated to the intergenerational dialogue. The young adults with aniridia (18 to 25 years of age), supervised by adult experts, had prepared some games for kids with aniridia grouped by age, games that involved using their bodies to measure the room, touching and dragging each other, jumping, moving according to the music, and so on; the goal was to have fun while activating all the kids’ potential resources for movement and interaction. For older kids, the games were based instead on speaking, for example the game called “obligation and truth” forced the participants to do or say something in order to avoid a penance, with the purpose of helping them in expressing their feelings and needs. The afternoon brought about an inversion of roles: the young adults became the ones on stage, having to confront with adults aged 30 to 40. The format was that of “speed dates”: people sitting in couples formed by a younger and an older person, face to face, having 3 minutes to answer to each other the questions prepared by the organizers before changing the table and the person. Plain questions, at the beginning, but becoming more and more tricky and uncomfortable as the game progressed, in order to bring people out of their “comfort zone” and reach inner places where they’d never been before. A demanding situation, indeed, but that conquered the participants.

A Saturday full of words, contacts and emotions, that exceeded expectations and created a stronger link between people of different generations, in the certainty that you can help each other and have fun together at the same time.

On Sunday morning the General Assembly of the association was held. The president Corrado Teofili reported on activities and budget, and informed about the programmes for the next year, that were approved by the members. Barbara Poli and Thomas Abbruzzo reported about the 4th European Conference on Aniridia, held in Paris last summer, and on its outcomes.

The new Board was elected: Corrado Teofili, president,  Matteo Castelnuovo, vice president, Barbara Poli, delegate to Aniridia Europe, Laura Spitaleri, board member, were confirmed in their roles. Thomas Abbruzzo was elected in the board as delegate to the young sector. Veronica Tartaglia was appointed as person in charge for the events. All the other roles were confirmed.

And finally, a great surprise! Matteo Castelnuovo showed an exclusive interview he performed with Charlie Cox, the English actor that has portrayed Matt Murdock, the blind superhero in Marvel’s Daredevil TV series produced and released by Netflix. Cox accepted to tell his feelings and challenges in interpreting a blind character and what he has learnt about the possibility to overcome your limits by cultivating your personal resources. Let’s be inspired by this story of determination and self empowerment. After all, we can all become superheroes, if only we believe we can do it…

94th Congress of the Spanish Ophthalmology Society SEO, Granada 26-29 September 2018

The Spanish Association of Aniridia AEA attended this SEO Congress where they had the privilege of learning from the experts and professionals who gathered there from September 26 to 29th 2018 in Granada.

It was a unique opportunity for AEA, to disseminate information about aniridia and associated pathologies, the association itself, its role and tasks carried out for people with low vision, among professionals, students, teachers and experts who met at this annual event, as well as to continue learning and sharing information about ophthalmological pathologies.

In addition, they also had some meetings with the industry labs, to obtain tears and information about new products related to dry eye.

Meeting of the the Russian Scientific Committee of the Interregional Support Center for patients with aniridia “Iris”, August 2018

The Russian Scientific Committee met in August 2018 and decided to write Clinical guidelines on congenital aniridia for the Russian Federation, as well as to start a general Register of patients with congenital aniridia in Russia. More information at:

http://aniridia.ru/ru/news/2019/01/17/avgustovskie-vstrechi-nauchnogo-komiteta-mcpba-raduzhka

The 4th European Conference on Aniridia: a further step in the right direction

It was a week end full of events, meetings and opportunities to share expertise and experiences the one we spent in Paris from the 24th to the 26th of August 2018.

The 4th European Conference on Aniridia, gathering more than 70 professionals and more than 130 patients, was a great opportunity to bring together experts in aniridia and people with aniridia. It contributed to strengthen the links between professionals and to push forward aniridia research.

The five sessions, focused on the genetics of aniridia, systemic deficiencies and syndromic aniridia, and on the ocular surface and cornea rehabilitation, showed a high scientific level of the speeches and made possible a fruitful debate among researchers and clinicians.

The sixth session, open to families, gave the patients the opportunity to ask questions to the professionals, and at the same time the possibility for doctors to get a better understanding of their patients’ needs.

Moreover, the afternoon before the conference, the meeting of the Scientific Committee of Aniridia Europe laid the foundations for future projects, such as the development of common European clinical guidelines on aniridia, as well as a research project on genotype-fenotype correlations.

Every European Conference on Aniridia has meant a step forward for a better knowledge on this rare disorder, the hope for a better care and a better quality of life for people with aniridia, and more chances for research, and the conference in Paris made no exception.

Aniridia Europe expresses its gratitude to prof. Dominique Brémond-Gignac, Ophtara (Reference Center for Rare Diseases in Ophthalmology, Paris), Gêniris and all its members, because without their huge work and dedication over the past two years these results would not have been possible.

We look forward to meeting again in the UK in 2020!

 

Aniridia Europe and Aniridia Spain at WOC

Aniridia Europe and the Spanish Aniridia Association participated at  the World Ophthlamology Congress WOC in Barcelona, June16-19th 2018.

Both organisations shared a booth, at the exhibition room, and had the possibility to talk and to provide information about Aniridia and both organisations to ophthalmolgists  coming from all parts of the world.

This congress brought together more than10.000 specialists from  140 countries, who presented the last advances for eye disorders  diganostic and treatment.  Specific programs for different specialities were presented, such as for glaucoma, cataratas, cornea, refractive surgery, macular degeneration,  paediatric ophthalmology, strabismus, kerat

oconus,  retina and uveítis. Some presentations focused on therapies for dry eye, different surgical procedures on the ocular surface and postsurgical problems of cataracts surgery. A 3D live surgery by Barraquer Centre specialists has to be remarked.

A lot of big eye pharmaceutical companies also provided training sessions about their products..

This congress was very successful and all participants were invited  to attend the next WOC 2020 in South Africa

Take part in international Aniridia Day on 21 June 2018!

After last year’s great success, the International Aniridia Day Committee is organizing more activities in 2018. You are invited, for example, to propose and participate in webinars on June 21 with the objective to promote a better understanding of aniridia, to exchange experiences and build new knowledge on various topics.

To celebrate the day, you are also encouraged to organise different activities and events in your country or in your social groups, like:

  • a sport competition,
  • dissemination of information,
  • a conference in a hospital/eye clinic,
  • a theatre play,
  • participation in media (radio or TV),
  • a press release,
  • a fashion show,
  • a charity sale, etc.

All ideas/actions are welcome as long as they show a realistic but positive picture of the aniridia community.

Everyone can contribute, and your success will be a whole aniridia community´s success!

For ideas, comments, suggestions or simply to share your experience please contact the International Aniridia Day Committee at: contact@aniridiaday.org

A €2.5 million project on aniridia funded at the University of Saarland, in Germany

Aniridia Europe is pleased to share the news sent by Prof. Barbara Käsmann-Kellner of the University of Saarland, in Germany.

The Schwiete Stiftung consortium, a charity donor, will support the University of Saarland with 2.5 Million Euros. The Department of Ophthalmology will thus have the opportunity to finance a professor, a doctor in biology and laboratory equipment for 5 years, with 500,000 Euros per year, for research on aniridia and limbal stem cell insufficiency.

This is the result of the huge effort of a team formed by Prof. Dr. Berthold Seitz, Prof. Dr. Barbara Käsmann-Kellner, Dr. Lorenz Latta and Tanja Stachon MSc., that expressed their profound gratitude to the Schwiete Stiftung consortium for accepting their application and for providing staff and financial resources to the University for these objectives.

The whole aniridia community considers this to be a great opportunity to perform good research on aniridia and to make a further step in the search for a better management of this genetic condition and for a higher quality of life of the patients.

4th European Conference on Aniridia, Paris, August 25-26th 2018

Aniridia Europe, Gêniris and OPHTARA (Reference Center for Rare Diseases in Ophthalmology, Paris) are pleased to announce the upcoming 4th European Conference on Aniridia, which will be held on 25th-26th August 2018 in Paris, France.

The programme for professionals will include updates on the genetics of aniridia, on systemic deficiencies related to aniridia and on ocular surface and cornea rehabilitation. Information about the programme, speakers and venue, as well as the registration platform, are available at: http://www.geniris.fr/260+conference.html

After the previous conferences: Oslo 2012, Venice 2014 and Duisburg 2016 see at: http://www.aniridiaconference.org/), this is a further fundamental step of the aniridia community in our effort directed to improving the knowledge of the disease, strengthening the network among professionals and promoting research and a better treatment and quality of life of those affected by this condition.

Ophthalmological consultations for foreign aniridic patients (WAGR patients included) will be available on Friday 24th August 2018. The same day a Patients & families meeting and a Youth meeting will be open to the participants. Moreover, a patients and family session will be held on Sunday morning. Please check information about programme and registration at: http://www.geniris.fr/uploaded/Conf%C3%A9rence/20180209-prog-ae-conf-paris-2018-v26families.pdf

Aniridia Europe’s General Assembly for full and affiliated members is scheduled on Friday 24th August 2018.

Please take note of this schedule while booking your travel and accommodation.

For any question about the conference please contact Geniris, the organisers: aniridiaconffrance@gmail.com

For information about Aniridia Europe’s social and institutional activities during the conference please contact our President, Ms. Rosa Sánchez de Vega: rosa.sanchez@aniridia.eu

The Spanish Aniridia Association signs an agreement with OftaRed

In the frame of the signed agreement between the Spanish Association of Aniridia and Oftared http://www.oftared.com/, an innovative proposal was launched: those students of Nursing, Optics and Medicine Schools in Valladolid University (Spain) may apply for an annual University cooperation, according to which, they can get 3 credits of free choice in their University Curriculum.

For the first time, the studies and activities focused on Aniridia will have the official recognition at University level. This is a pioneer initiative, because it is oriented to the  dissemination of the information about Aniridia, through the translation and summary of scientific research articles, diagnosis, rehabilitation and treatment related to it. Therefore, the purpose is to make the scientific information accessible to the society, especially to the members of the Spanish Association of Aniridia.

Thanks to this initiative, awareness, visibility and understanding about this rare  pathology can be increased. But, what is more relevant is that a rare disorder, like Aniridia gets into the University in the educative arena,  drawing attention and interest among future socio-health professionals, an achievement that nobody could imagine twenty years ago, when the Association was created.

For more information, please, see: http://aniridiayciencia.blogspot.com.es/

 

Prof. Bremond-Gignac´s statement on Rare Diseases Day

ShowYourRareShowYourCare

#ShowYourRare

As a physician-researcher who care patients affected by a rare disease, such as aniridia, rare pathologies of iris and cornea, we must make it more visible, well known and better understood.

We must support associations and patients in France and Europe for better care, to prevent possible difficulties and promote researches.

We must show patience, weakness, strength and tenacity to overcome the obstacles that patients and associations faced in their life.

We must help and show that it is possible to be successful and happy living with a rare disease, such as aniridia, rare pathologies of iris and cornea.

 

As a physician-researcher and president of the Medical and Scientific Committee of a patient association in France with Geniris and a European federation with Aniridia Europe, we must advance care and research on aniridia, rare diseases of the iris and cornea. Geniris does it nationally in cooperation with French Rare Disease Alliance and AFM Téléthon, French rare diseases reference network and centers, Inserm and in Europe with Aniridia Europe, Eurordis, the european rare eye diseases network ERN EYE and more widely with the world ophtalmopediatric society, WSPOS.

We must show generosity, wisdom and courage.

We must raise awareness, educate, inform and advise patients, families and health professionals.

We must be proactive and lead the way in advancing care and research for aniridia, rare pathologies of iris and cornea.

Finally, we must build a national, European and international network between health professionals and patients that allows us, among other things, each year, to review recent advances in care and research. This will happen this year, 25th-26th August 2018 in Paris, France and it will be the 4th European Conference on Aniridia!

To find out more and register, go here : www.geniris.fr

#ShowYourCare

As a physician-researcher who care people affected by a rare disease such as aniridia, rare diseases of the iris and the cornea, we must be aware of the symptoms and how they change over time. We must ensure they have a good quality of care and quality of life.

We must also be considerate of others.

 

As a physician-researcher and president of the Medical and Scientific Committee of a patient association in France with Gêniris and a European federation with Aniridia Europe, we must inform and educate on the best treatments available, how to take care of their eyes, to manage risks and risky behaviors, to reduce the risk of blindness when these diseases are not yet curable.

We must develop preventative measures against further sight loss. We must develop national and international protocols outlining the best therapeutic treatments and standards of care. This is the main objective of Gêniris and Aniridia Europe in the short term.

One of the ways that can help achieve this is to take part in the 4th European Conference on Aniridia, anomalies of the iris and cornee development taking place on 25th-26th August in Paris, France.

A unique opportunity, in Europe, to meet specialists and families from across several continents!

To find out more and register, go here : www.geniris.fr