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Monthly Archives: Feb 2024
Lives with Aniridia & Auditory Processing Disorder
Mother and daughter Bernie and Abbie Reddington both have Aniridia and Auditory Processing Disorder (APD), which have impacted their lives in a variety of ways. They spoke openly at our 2023 Conference in Birmingham last September about the challenges they’ve … Continue reading
Posted in Patients' tales
Tagged auditory processing disorder APD, Conference, Conference 2023
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Amlexanox rescues PAX6 levels in aniridia stem cell-derived models
Dulce Lima Cunha is a postdoctoral researcher from UCL Institute of Ophthalmology, currently working at Radboud University in the Netherlands. Last year she published the results of a study demonstrating that Amlexanox rescues PAX6 levels in aniridia stem cell-derived models, … Continue reading
Rare Disease Day 2024
300 million people worldwide are living with a rare disease, including 3.5 million (1.6%) in the UK. There are over 7,000 rare diseases, one of these being aniridia. February 29 is Rare Disease Day, a time to raise awareness and … Continue reading
Natural history of aniridia: a genotype-phenotype study of 86 aniridia patients with PAX6 mutations
In 2021, the results of a significant study were published by Vivienne Kit, Dulce Lima Cunha, Ahmed M. Hagag and Mariya Moosajee. It assessed 86 aniridia patients with a variety of mutations in the PAX6 gene, through the retrospective review … Continue reading
Patrons looking backwards and forwards, and Lifetime Achievement Award for Veronica
We honoured the huge impact Veronica van Heyningen has had on our understanding of aniridia at our recent annual meeting. After a distingushed career growing understanding of the diverse functions of the PAX6 gene that often causes aniridia, Veronica has … Continue reading
Posted in Aniridia Network news
Tagged awards, Conference, Conference 2023, Patron, Veronica
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