Harmonization/consensus on clinical examinations, treatment guidelines, patient information, clinical endpoints.
Combining patient cohorts for multi-centre clinical studies, combining tissue/blood/tear samples for biomarker, genetic and high-throughput molecular analysis.
Approaches of stem cell biology, tissue engineering, gene delivery (eg. viral vectors), gene modification (CRISPR/Cas9 technology) or gene modulation (through miRNA) for developing translational regenerative therapeutic strategies for the treatment of aniridia.
Transplantation, Inflammation and Immunity: evaluation of new/emerging transplantation techniques for AAK, dry eye disease, surgical outcomes, fibrosis, immune response, inflammation, and corneal neovascularization in aniridia-associated keratopathy.
Cell-based, small animal, dry eye, transplantation, therapy, imaging in animals, opportunities for collaboration and centralized analysis.
Limbal stem cell (LSC) are believed to be affected in Aniridia. Shalom-Feuerstein’s lab developed genetic mouse models that allow (i) LSC labeling using K15-GFP reporter gene and (ii) LSC fate mapping using multi-color “Confetti” fluorescent reporter genes that are randomly activated in K14+ LSC. References: Nasser et al, Cell Reports 2018; Amitai-Lange et al, Stem Cells 2015; Amitai-Lange et al, JoVE 2015.
Associations providing input into new research questions and studies, aniridia syndrome, non-ocular complications, survey studies, obtaining patient samples for research.
When we are looking for something we must be aware of the perspective… Aniridia-net.eu/WG6 is looking for the right perspective!