Following the work done by the Childrens Medical Research Institute, new opportunities for gene therapy and diagnosis for the blinding eye disease and retinal dystrophy may be added.
This work was published in the Journal of Personalized Medicine.
The researchers investigated the RPGR gene which is involved in maintaining healthy photoreceptor cells. Variants in this gene are the main cause of eye disease, such as rod cone dystrophy and gene therapy for this condition is currently in clinical trials.
Rod cone dystrophy affects rod and cone photoreceptor cells and manifests in reduced night and peripheral vision as well as progressive vision loss. There have been more than 60 identified contributing disease genes.
In a patient with rod cone dystrophy and working with CMRIs Stem Cell Medicine, a research has discovered that the new mutation affected the function of the gene.
Professor Robyn Jamieson, the first and second authors of CMRIs Eye Genetics, claimed that Fidelle Karam and To Ha Loi had taken great care to demonstrate that this genetic variation was disease-causing, and that they had now identified biomarkers to further investigate novel therapies targeting variants in the RPGR gene.
Genetic therapies for people with variants in the RPGR may be subjected to clinical trials, thus this work provides a genetic diagnosis, as well as avenues for research and biomarkers for further investigations into new therapies for those who have variants in this gene, which is one of the most common causes of retinal dystrophy.