LCA5- and PCARE-associated retinal disease

Monday 5 June 2023, 2:30 pm
From molecular mechanism towards therapeutic intervention
PhD student
A.V. Afanasyeva
prof. dr. R.W.J. Collin, prof. dr. ir. R. Roepman

Inherited retinal diseases (IRD) cause vision problems because the cells in the eye that help us see don't work. This research study is about two genes, LCA5 and PCARE, that cause two types of IRD, Leber congenital amaurosis (LCA) and Retinitis Pigmentosa 54 (RP54). The study found a way to fix the LCA5 gene problem using gene-editing of the cells from the patient's blood, and then grew healthy eye structures called retinal organoids, showing the proof-of-principle for gene-editing treatments. They also looked at the structure of the PCARE protein to see how it works, which could help in creating a treatment for RP54 using a virus. This research could lead to new treatments for IRDs and help people with blindness.

Tess Afanasyeva obtained a Master's degree in Regenerative Biology at the Technical University of Dresden, Germany. Tess moved to Nijmegen, where she developed a retinal organoids model for blindness caused by mutations in the LCA5 gene and worked on understanding the molecular function of the Retinitis Pigmentosa-causative gene PCARE.