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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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 aiming to understand LSC behaviour under different conditions and to select highly regenerative cells for more effective LSC transplantation in aniridia patients. The picture shows Meri Vattulainen (front, PhD student at Skottman’s Lab), and Elena Danielle (behind) sharing knowledge on LSC...

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 of Saarland), tear film cytokine profiling (Erlend Sommer Landsend, Oslo University Hospital), and animal modelling of aniridia-related keratopathy (Daniel Aberdam, INSERM-Paris) were some of the research highlights discussed in this aniridia-focused symposium. ...

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 and quality control assays (viability, life span, expression markers analysis, etc). This fruitful cooperation will enhance the research efforts being invested in the VISION project, a collaboration between the MERLN Institute for Technology-Inspired Regenerative Medicine (Maastricht University), the University Eye Clinic Maastricht (MUMC+) and the...

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 well as reduced levels of IL1-RA, leading to a reduced tear production and increased tear film osmolarity in patients presenting AKK. This discovery contributes to the understanding of the biology of AKK progression and may be crucial in helping diagnosis and treatment decisions in...

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 the disease. This collaboration was made possible thanks to COST actions networking tools ...