Dr. Boye’s grant will help support development of an AAV- based gene therapy to treat the retinal phenotype of the severe deaf/blinding disease, Usher syndrome type 1B, which is caused by mutations in the gene MYO7A. Because MYO7A is large, the therapy involves delivery of the gene in two packages— an approach known as dual-vector delivery. Dr. Boye’s emerging treatment provides an alternative to UshStat®, a gene therapy for Usher syndrome type 1B currently in a human study. UshStat uses a high-capacity, single-vector lentivirus for gene delivery.
Dr. Lewin’s grant will help support development of a two-step gene therapy for autosomal dominant retinitis pigmentosa (adRP) caused by mutations in the gene rhodopsin. RP often has an autosomal dominant inheritance pattern, meaning one copy of an altered gene in each cell can cause the disorder. People with adRP have an affected parent and often other family members with the disorder. Dr. Lewin’s treatment involves delivery of a healthy gene and suppression of the mutant gene. Success in the studies will help position the treatment for evaluation in a clinical trial.