Investigating alternative genetic causes of Retinitis Pigmentosa

Brief Lay Background

Retinitis Pigmentosa (RP) is a degenerative eye condition affecting roughly 1 in 4000 people worldwide. It is characterised by the degeneration of the retina at the back of the eye. This disease causes night blindness in adolescence which gets progressively worse, possibly leading to blindness. There are multiple causes of RP, however one of the most common is due to changes in the DNA of genes which produce proteins called splicing factors. The reason why changes in these splicing factors cause RP is unknown. The proposed project investigates a gene (ARL13B) which is critical critical for correct function of a structure inside the retina.

What problem/knowledge gap does it help address

This proposed research is needed because if researchers can demonstrate that ARL13B is altered in patients with RP, and understand how this damages the retina, they will open up a vast avenue for research into RP caused by splicing. Potential future therapies, such as gene therapy introducing the correct form of ARL13B into individuals with splicing factor RP, may reduce the impact of this debilitating condition.

Aim of the research project

To understand if alterations in a gene called ARL13B, are present in patients with RP, and to characterise how those alterations affect retinal cells.

Key procedures/objectives

1. Demonstrate that ARL13B is altered in patients with RP
2. Investigate the damage caused by alterations in ARL13B in patients with splicing factor RP

Potential impact on people with sight loss

This research could finally uncover the link between splicing factor mutations and RP. Understanding the reasons why splicing factor mutations cause a specific retinal disease is beneficial for patients because it will expedite development of new treatment strategies. Greater knowledge of how the abnormal function of splicing factors disrupts retinal cell function is required to design therapies that repair retinal cell activity.

In the future, this research could lead to exciting advances in therapies for patients with splicing factor related RP. It is possible that changing the levels of ARL13B in the retina of RP patients may lessen the severity of the second most common form of RP, and provide great benefit to patients in terms of quality of life.