Aniridia models for collaborative research: (stem) cell-based, small animal, dry eye, transplantation, therapy, imaging in animals, opportunities for collaboration and centralized analysis. Identify and validate new therapeutic tools to treat aniridia-associated keratopathy (ARK), limbal stem cell deficiency and dry eye, WG5 will list among the COST Aniridia members the different cellular and animal models as well as imaging technology in animals that could be relevant for the disease treatment. This includes primary patient cells, genome editing/siRNA and patient-derived iPSC, as well as 3D culture and bioengineering.OMICS(RNA, miRs and proteins) analyses will clarify the nature and defects of the different cellular models, including genes and signalling pathways. These tools will serve (i) to a better knowledge on limbal/corneal physiopathology related to ARK and (2) to screen for drugs and other alternative therapeutic tools. These efforts will be a great opportunity for collaboration between partners.
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.