Recently, an article was published in the journal Cells about the scientific research on USH2C. Merel Stemerdink and her colleagues at the Radboudumc have developed a zebrafish model with a gene defect in adgrv1 (the gene associated with USH2C). This is the very first animal model for ADGRV1-associated retinal dysfunction, and therefore a crucial step to enable further research on therapy development for ADGRV1-related RP.
Using these fish as an animal model, Merel will also start testing the effectiveness of the ADGRV1-minigene therapy in the coming year.
The official title of the paper is ‘Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology’ and it has been published in a Special Issue of Cells titled ‘CRISPR-Based Genome Editing in Translational Research’.