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Author Archives: Aniridia Network
Thanks to our retiring Medical Adviser Melanie Hingorani
Our long-time go-to for all medical queries, Melanie Hingorani, has retired from working as a consultant at Moorfields Eye Hospital and with us too. Her career had a focus on engagement and quality in eye healthcare, including answering our members’ … Continue reading
Be a leader of Aniridia Europe
Aniridia Europe is recruiting volunteers to be directors, to lead and carry out its activities for the next 2 years. It’s an important and exciting role where you can influence the support provided to aniridia researchers, doctors, associations and patients, across … Continue reading
Meet up to mark Rare Disease Day
18 members came to one of 4 meet ups around England to celebrate international Rare Disease Day 2024. They got to meet fellow aniridia patients and relatives to chat about all aspect of aniridia. As always it was a wonderful … Continue reading
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
2 Comments
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
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
1 Comment
18-30? Apply for the 3-day aniridia academy in Stockholm
We have a great Christmas present and new year offering for you.But you need to act quickly to have a chance to take it! We want to help 18-30 year olds with aniridia kickstart your careers, advance your studies or … Continue reading
Tickets for European Aniridia Conference 2024 selling out
There has been a very demand for the places at the 7th European Aniridia Conference, in Stockholm, Sweden. That is fantastic and very promising, but unfortunately they are running out of tickets. Book now if you want to attend. Including … Continue reading
Posted in International, Medical staff talking, Research
Tagged Aniridia Europe, European Aniridia Conference
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‘Knowing that you’re not on your own’: Research into internet use by people with aniridia
A researcher has found that for people with aniridia, being online, in relation to their condition is: transformational empowering liberating gave a feeling of solidarity and is ever evolving During the past year, a Cardiff University masters student studied the … Continue reading
Posted in Patients' tales, Research
Tagged Cardiff University, Conference, Conference 2023, social media
1 Comment
