USH1B Update, Shannon Boye, PhD (with ASL)

With ASL: This presentation will focus on the following main points: Description of Usher syndrome 1B MYO7A gene/protein function Clinical characterization (retina) MYO7A deficient mice don’t mimic patient condition (have very subtle phenotype rather than retinal degeneration and dysfunction) That is likely due to differential expression of MYO7A between mice and primates (MYO7A not very important in mouse photoreceptors, but very important in primate photoreceptors) MYO7A is too large to fit inside a conventional AAV vector. For this reason, initial attempts focused on lentivirus. Clinical trials using lentivirus to delivery MYO7A have shown no signs of efficacy. Dual AAV vector technology Improvements we’ve made to dual vectors Dual AAV-MYO7A vectors well tolerated in subretinally injected macaque