Inherited eye disease

Dr Gabrielle Wheway from UWE Bristol's Centre for Research in Biosciences has been awarded funding from the Wellcome Trust and National Eye Research Centre (NERC) to investigate a specific group of proteins which are mutated in retinitis pigmentosa, the most common cause of inherited blindness.

The study will focus on proteins which are involved in splicing – a function which is essential in all cells. It is not understood why mutations in these proteins lead to disease of the retina, but do not affect the health of other cells and tissues. Dr Wheway’s recent worked linked these proteins to a part of the cell called the primary cilium – a structure which acts like the cell’s antenna, receiving and transducing signals. This suggests that these proteins may have a novel, previously unknown function, which could help to explain the disease when these proteins are mutated.

The Wellcome Trust and NERC-funded project aims to elucidate the molecular mechanism of this disease by mutating these proteins in cultured retinal cells using CRISPR/Cas9 genome editing technology. The structure and function of the cells, and the protein interactions within the cells, will be assessed after mutation in order to further understand the disease pathway