Dr. Adeline Vulin from Nationwide Children’s Hospital presented the latest data from her work in Dr. Kevin Flanigan’s lab on the new duplication mouse model and the results of exon skipping experiments in that mouse.
Duplications account for approximately 6% of all Duchenne mutations, and duplications on exon 2 account for 10% of those mutations. The goal of this study was to skip exon 2 with U7 introducted via AAV.
After confirming the Duchenne phenotype in the new mouse model, they were able to show the restoration of a functional dystrophin protein at the cell membrane.
This is not intended to be a thorough recap of the presentation, we will be presenting this data in detail along with Drs. Flanigan and Vulin in the next few weeks. CureDuchenne has worked with Kevin Flanigan over the last few years to provide funding for this research. As exon skipping began to show promise, we felt it was imperative to make this potential treatment available to as many Duchenne patients as possible, no matter what their mutations.