Genetics     Mechanisms of Cell Loss     Gene Therapy     Stem Cell Therapy    

Mechanisms of Cell Loss and Dysfunction

Inherited retinal dystrophies encompass a spectrum of disorders that affect the light sensitive, ‘photoreceptor’ cells at the back of the eye. These diseases can begin with the dim light receptive rod cells (RP), or the colour sensitive cone cells (CRD) or both (LCA). Sometimes photoreceptor cell loss can be combined with other, non-ocular symptoms such as deafness (Usher’s). Mutations in over 100 different genes can lead to photoreceptor cell death and dysfunction. Research at the Institute of Ophthalmology is focused on understanding the dysfunction and death of photoreceptor cells through a range of complementary approaches and techniques in several labs. For example, understanding the normal function of photoreceptor disease genes is vital to determine why their disruption through mutation leads to cell loss. We are working to understand the functions of retinal disease genes in a wide range of physiological processes, from mRNA splicing, through protein folding and traffic to phototransduction. Potential gain of function mutations, such as misfolding mutations in rhodopsin that cause dominant RP, are also being investigated as a means to identify potential new therapies. Photoreceptor cell loss and dysfunction is further investigated using a variety of model systems and visualised through state of the art imaging and physiological studies.

IO researchers working in this area:
Professor Shomi Bhattacharya
Professor Fred Fitzke
Dr Clare Futter
Dr Alison Hardcastle
Professor David Hunt
Professor Tony Moore
Jose Sahel
Dr Andrew Webster

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