Donders Institute for Brain, Cognition and Behaviour
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Thesis defense Tess Afanasyeva (Donders Series 611)

5 June 2023

Promotor: prof. dr. R.W.J. Collin
Copromotor: prof. dr. ir. R. Roepman

LCA5- and PCARE-associated retinal disease: from molecular mechanism towards therapeutic intervention

This thesis delves into Inherited Retinal Diseases (IRD), degenerative disorders that cause progressive dysfunction or loss of photoreceptors, leading to vision impairment. Specifically, it focuses on two genes, LCA5 and PCARE, that cause severe forms of IRD - Leber Congenital Amaurosis and Retinitis Pigmentosa 54, respectively. Using novel cellular approaches such as CRISPR-Cas9, induced pluripotent stem cells, and retinal organoids, this thesis explores the molecular mechanisms of LCA5-caused IRD. In addition, it reveals the PCARE protein structure and dynamics of PCARE-actin interactions and further provides a basis for the development of an AAV vector expressing PCARE for molecular therapy. This research sheds light on the underlying mechanisms of these blinding diseases and provides a direction for future scientific investigation.