Every last Sunday in September, World Retinitis Pigmentosa Day is celebrated. The Neurodegeneration Sensorial group at Biogipuzkoa, co-directed by Cristina Irigoyen Labarra and Javier Ruiz Ederra, maintains several open research lines concerning this condition.
On one hand, they are developing advanced diagnostic strategies based on whole-genome sequencing (WGS), testing high-throughput screening computer algorithms, and conducting functional study analyses using mini-genes. On the other hand, they are developing new therapeutic strategies using cellular and animal models.
This year, the research group participated in an international study that has detected new mutations causing Retinitis Pigmentosa. The researchers noted that this study "may have relevance in our population," as previous group publications identified a significant number of patients with hereditary retinal dystrophies carrying mutations in the mechanism where these mutations were found.
Furthermore, as every year, the Begisare Association and the Neurodegeneration Sensorial group held a meeting to update the association's volunteers on the research made possible by their help and involvement.
