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Category Archives: Research
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
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: During the past year, a Cardiff University masters student studied the experiences and attitudes of adults with aniridia towards internet and social media … Continue reading
Posted in Patients' tales, Research
Tagged Cardiff University, conference, Conference 2023, social media
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Research into improving transport for visually impaired people & life with aniridia
At our conference in Birmingham in September 2023, Emily Nash gave the following presentation discussing her life with aniridia, and her upcoming research study into how the accessibility of transport can be improved for people with sight loss. The study … Continue reading
Further sight loss with aniridia research: participants wanted
People with aniridia are needed for a research study about worsening sight, whether you have dealt with it or may do in future. Aniridia usually results in low vision from birth. At some point conditions such as cataracts, glaucoma or … Continue reading
Posted in Medical staff talking, Research
Tagged Cardiff University, psychosocial, research
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Conference 2023 review
We held our first in-person conference for 4 years on 2 September 2023 at the Library of Birmingham. It was good to be back together after the pandemic – well, if you were able to get there! Many were: despite … Continue reading
The diverse functions of PAX6: How Veronica grew our understanding
Our Patron Veronica van Heyningen worked at the Medical Research Council for more than 35 years. In that time she and her colleagues in Edinburgh did pinoneering work to undertand the PAX6 gene. They were identified it as the gene … Continue reading
Internet & social media research study: participants wanted
Emily Sterling, a Masters student from the Cardiff University Centre of Medical Education, is looking for adults with aniridia to take part in a research study about their use of the internet and social media. Emily has provided the information … Continue reading
Conference 2022
Our main event of the year took place online today. People from all arond the UK, Ireland and beyond joined via Zoom to hear and talk about various aspects of aniridia. There reactions were heartening: I’m very grateful for all … Continue reading
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