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

Advertisements

About Aniridia Network UK

A charity support group for people with the genetic visual impairment aniridia and their families in the UK. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. Registered as a charity in 2011 with HMRC reference XT26830
Video | This entry was posted in Medical staff talking, Research and tagged , , . Bookmark the permalink.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s