Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual’s lifetime.

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Author: aniridia-net

29 February 2020 will be the thirteenth International Rare Disease Day (www.rarediseaseday.org/) coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities on rare diseases. Aniridia is a rare disease because it affects a small percentage of the population. Each rare disease may only affect a handful of people scattered around the world, however there are over 300 million people living with one or more of over 6,000 identified rare...

Elena Danielle, an MSc postgraduate at the Veneto Eye Bank Foundation (Italy) recently returned from a short scientific mission with the Skottman group at Tampere University (Finland) to share knowledge on primary limbal stem cell (LSC) culture and characterization techniques. During her visit, different LSC cultivation approaches were tested and compared to identify ABCG2-positive cells in primary limbal stem cells cultures obtained from fresh human as well as porcine corneas. These are the first experiments of a future research collaboration...

Just a few words to inform you about the upcoming European Conference on Rare Diseases and Orphan Drugs taking place on 15-16th of May in Stockholm. We believe this is a great opportunity for dissemination activities of our COST action #CA18116, as well as to present any scientific achievements, clinical approaches or activities related with aniridia. Submission for posters is open till 10th of February. Be aware that Early Career Investigators from ITC countries** with a confirmed contribution (poster) to...

The European Association for Vision and Eye Research (EVER) Annual Congress held last October 2019 in Nice, France received a party of EU COST action ANIRIDIA-NET / #CA18116 members lead by Prof. Neil Lagali (Linköping University, Sweden) to present some of the recent European efforts to promote congenital aniridia research in a Special Interest Symposium. miRNA profiling of conjunctival cells (Lorenz Latta, University of Saarland), imaging of aniridia related abnormalities (Bogumil Wowra, University of Silesia), aniridia genotype-phenotype correlation (Dominique Bremond-Gignac, Necker University Hospital), novel keratoplasty techniques (Fabian Fries, University...

Last December 2019, Arianne Van Velthoven, a phD student in stem-cell based regenerative medicine at Maastricht University (the Netherlands), returned from a scientific mission at Fondazione Banca degli Occhi del Veneto (Italy) under the supervision of Dr. Stefano Ferrari, where she has received intensive training in the know-how that allows for limbal cell transplant for the treatment of LSCD. This COST action #CA18116 scientific mission involved techniques such as: 3T3-J2 maintenance and irradiation, isolation and culturing of limbal cells from cadaveric samples, transplant preparation using fibrin glue gels...

Aniridia-associated keratopathy (AAK) physiopathology is a multidimensional condition involving not only limbal stem cell deficiency, but also a dysfunction in the eye’s tear film as well as changes in inflammatory mediators that lead progressively to the opacification of the ocular surface. This is the final message of the talk given by Neil Lagali, Associate Professor at Linköping University, at the World Congress of Paediatric Ophthalmology and Strabismus celebrated last September 2019 in Paris. Studies by he and his colleagues have revealed the activation of six different immunomodulators as...

In the first COST-Aniridia STSM in October 2019, researchers in Saarland University Hospital, Aniridia-net.eu (Lorenz Latta) and Radboud University (Jo Huiqing Zhou) took the first steps to create a transcriptome blueprint of limbal epithelial cells in healthy as well as aniridic eyes, using aniridia samples from Saarland University Hospital and single cell RNA-seq technique, available at Dr. Zhou’s lab. These findings will provide insights into the understanding of limbal stem cell biology as well as into pathophysiologic changes of...

Ophthalmologists at the Saarland University Medical Centre including Prof. Barbara Käsmann-Kellner and Prof. Berthold Seitz have found specific variations of the primary gene that causes aniridia (also called PAX-6) that may account for the different subtypes and severity degrees of this devastating eye disease. This novel finding will improve disease characterization and diagnosis, facilitating treatment decisions as well as future research in patients suffering from aniridia. Hereditary aniridia is a rare, severely impairing disease principally caused by one (or...

Don’t miss the upcoming European Association for Vision and Eye Research Conference (EVER 2019 http://www.ever2019.org/) that will be held in Nice on October 17-19, 2019. A team of Aniridia-net.eu action #CA18116 members are taking part in this Congress encouraging the basic, clinical and translational research concerning the eye and vision. Photo credit: http://www.ever2019.org/ ...