A pharmacological approach to reversing aniridia

Описание к видео A pharmacological approach to reversing aniridia

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 postnatal 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.

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