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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Working Groups

WG 1 – Clinical Guidelines

Harmonization/consensus on clinical examinations, treatment guidelines, patient information, clinical endpoints.

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WG 2 – Clinical and Cohort Studies

Combining patient cohorts for multi-centre clinical studies, combining tissue/blood/tear samples for biomarker, genetic and high-throughput molecular analysis.

Limbal stem cell deficiency and subsequent keratopathy in a patient suffering from congenial aniridia.

WG 3 – Stem cells and Regenerative Medicine

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.

Colonies grown from limbal stem cells and stained with crystal violet.

WG 4 – Transplantation, Inflammation and Immunity

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.

WG 5 – Aniridia models for collaborative research

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.

WG 6 – Patient-driven research

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… is looking for the right perspective!