One of the more exciting and promising research initiatives for aiding people with Aniridia is happening right here in Canada at The University of British Columbia Eye Care Center. The work is being done by Dr Cheryl Y Gregory-Evans, Ph.D., T.D. Please take a few minutes to watch the video below.
AFI and VFT are seeking to find Canadian patients with the nonsense mutation that would be eligible for the START therapy. Please contact AFI and VFT groups to confirm your eligibility.
Nonsense mutations that lead to PAX6 haploinsufficiency cause congenital aniridia, a panocular condition that results in severe vision defects. Cheryl Gregory-Evans and colleagues hypothesized that suppression of nonsense mutations could increase PAX6 levels and prevent post-natal eye damage. They developed a topical formulation of ataluren that not only inhibited disease progression, but also reversed ocular malformations and restored retinal responses in Pax6-deficient mice.