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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Last 14th & 15th may, during the Annual European Conference on Rare Diseases & Orphan Drugs (ECRD), Ivana Kildsgaard, Swedish member of Aniridia Europe and active ANIRIDIA-NET participant, presented an online poster about CA18116 action’s goals and strategic plan towards improving clinical management and research in aniridia patients. Organised by EURORDIS and co-organised by Orphanet and the DIA, the ECRD conference is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation...

We are pleased to announce the upcoming thesis dissertation of one of ANIRIDIA-NET Action’s participants, Mrs. Hilde R. Pedersen from the University of South-Eastern Norway, which can be followed digitally via zoom using this link. Next May 12th at 13:00 pm CEST she will be presenting the key aspects and conclusions of this aniridia-focused investigative work titled «The Retina in Congenital Aniridia – Structural, Functional and Genetic Variability». Her thesis entails a thorough analysis of variations in genotype and retinal...

Prof. Neil Lagali, Chair of the COST Action ANIRIDIA-NET and researcher at the Linköping University (Sweden), has recently given an interesting live webinar for the Denmark Aniridia Patient Association during its Annual meeting held in Fredericia (Denmark) on the 7th of March, 2020. In his talk, Dr. Lagali presented key findings on the association of genetic alterations and the different clinical manifestations and progression rates observed in the disease, findings that may lay the foundations for a better clinical management...

Patients with congenital aniridia demonstrate altered tear osmolarity and inflammatory profile, as well as ocular surface damage that correlates with the development of meibomian gland dysfunction, keratopathy and dry eye disease. Patients also show foveal hypoplasia with diminished fundus autofluorescence intensity. These are the main conclusions of an aniridia-focused investigative work titled “Congenital Aniridia: Exploring Visual Disabling Manifestations in the Ocular Surface and Ocular Fundus through Clinical and Translational Approaches” that has involved the examination of up to 35 subjects...

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...

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...