By Livia Carvalho, Ph.D.

The road towards testing gene therapy treatment strategies for Usher 1F has recently been joined by a new collaborative effort between research labs in the US and Australia. The labs of Dr. Livia Carvalho (Lions Eye Institute, Perth, Australia), Prof. Zubair Ahmed (University of Maryland, Baltimore, USA) and Dr. Luk Vandenberghe (Harvard Medical School and Massachusetts Eye and Ear, Boston, USA) are working together on an exciting gene therapy strategy to deliver a good copy of the PCDH15 gene to photoreceptor cells in the retina. The strategy consists of splitting the PCDH15 gene in two halves since it is too large to fit into the virus that will deliver the gene to the cells in the retina. The two halves will be delivered in separate virus particles but will come together inside the cell to make the full length gene. Dr. Carvalho has been working on creating the two gene halves, which Dr Vandenberghe will package into the virus particles. Using an Ush1F mouse model being developed in the lab of Prof. Ahmed, they will then test the treatment therapy to hopefully restore vision in the mouse model.

Funding from the Usher 1F Collaborative has been instrumental in moving these efforts forward and bringing this collaboration together. All researchers involved are very excited to be part of this wonderful community and hope to help advance the scientific developments towards finding a cure for Usher 1F.