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 molecular therapies.

The final part dealt with the use of a drug called ataluren to treat the ocular pathology in aniridia. This was published by Prof Cheryl Gregory-Evans from the University of British Columbia, Vancouver in the Journal of Clinical Investigation.

This is of great interest to patients and families with aniridia. The term START therapy was coined in this paper to describe a topical formulation of ataluren.

The data and findings from this paper were presented; and the potential role of ataluren or stop-codon read-through strategies in aniridia and genetic disease were discussed.

This is a very technical topic and Prof Willoughby tries to make it palatable.

Update 2015

Video of Cheryl Gregory-Evans presenting at a conference by Aniridia Russia

About Aniridia Network

A charity support group for people with the genetic visual impairment aniridia and their families in the UK and Ireland. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. First registered as a charity in 2011 and fully in 2018.
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