Category Archives: Research

Skin in the game – participation in aniridia research

Sarah tells how her skin sample is helping research into aniridia, and yours can too. Having a rare eye condition can seem like a disadvantage a lot of the time, but there are times when you get an exciting opportunity to … Continue reading

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Posted in Patients' tales, Research | Tagged , , , , | 1 Comment

Drug company donates £1,000 to ANUK

A global biopharmaceutical company has provided a donation to ANUK for which we are extremely grateful. PTC Therapeutics is the company that discovered and is developing ataluren for the treatment of disorders due to a genetic nonsense mutation. Approximately 20% of patients … Continue reading

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Assist research by joining a patient registry

It’s now easier than ever to assist research into aniridia and similar conditions. A patient registry has been set up and we encourage any of you with (with children who have) the following conditions to add your/their details to it. … Continue reading

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Posted in National Institute for Health WAGR study, Research | Tagged , | Leave a comment

Beth’s experience of research into development of sighted babies of visually impaired parents

Beth, who has aniridia, and her sighted son Edward are taking part in research into his development. Researchers want to know how having a visually impaired care giver affects babies. Beth says she can “highly recommend taking part” so we recorded … Continue reading

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Posted in Parents' accounts, Patients' tales, Research | Tagged | 2 Comments

Young people with aniridia needed for sleep research

Scientists want adolescents and young adults to take part in a study to learn more about how an aniridia-related gene affects sleep. Are you the kind of person they are recruiting? aged 10 to 20 years old with aniridia medically stable … Continue reading

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Emerging molecular therapies for aniridia presentation

Session at Aniridia Network UK Conference 2014 By: Professor Colin E. Willoughby The first part of this talk introduced the genetics of aniridia and in particular, the underlying molecular mechanisms, as this will form the basis to understand the developments in … Continue reading

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Cornea Connect brings researchers and patients together

Researchers into aniridic keratopathy held a event so they could meet people affected by the condition so they could learn about each other. Corneal opacification affects people with aniridia because of deficiencies in the eye’s limbal stem cells. The Cells … Continue reading

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Posted in ANUK news, Other agencies, Patients' tales, Research | Tagged | 1 Comment

Charter for improvements in rare disease drug evaluation launched

77 patient groups, including Aniridia Network UK are calling for improvements in rare disease drug evaluation in a ground breaking new report. This is the first time so many patient groups have come together to set out a united case for change. Today Genetic … Continue reading

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Our Patron’s Life Scientific on Radio 4

Aniridia Network UK’s Patron, Veronica Van Heyningen, was the subject of the BBC Radio 4 programme Life Scientific today. The half hour interview explored her love of research, particularly on the aniridia and the PAX6 gene plus her contribution to … Continue reading

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System to measure treatment of Limbal stem cell deficency)

Scientists have established a system to measure the effectiveness of treatment for cornea disease in people with aniridia – caused by Limbal stem cell deficiency  (LSCD) This objective, standardised method allows the effect of a treatment on patients to be … Continue reading

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Posted in Research | Tagged , | 1 Comment