Progress in New Therapy Development with USH1C Animal Models скачать в хорошем качестве

Progress in New Therapy Development with USH1C Animal Models

Jennifer J. Lentz, PhD & Susie Trotochaud: Usher syndrome is the leading genetic cause of combined deaf-blindness. Of the three clinical types, type 1 (USH1) is the most severe with congenital sensorineural hearing impairment and vestibular dysfunction and adolescent onset of retinitis pigmentosa. While the genetics of Usher is well understood, the treatment options for these patients are limited. To fill this gap, we created a mouse model of Type 1C Usher (USH1C) that contains the splice site mutation (USH1C c.216G-A) and a pig model that contains the nonsense mutation (USH1C c.91C-T) responsible for USH1C in patients. USH1C mice and pigs have hearing, balance, and visual dysfunction similar to patients. We use these models to develop antisense and gene therapies to treat USH1C.