Testing of a small promoter to treat nystagmus

Brief plain language background

Nystagmus causes involuntary movement of the eyes, usually from side to side.

Most people with the condition will have reduced vision – which can affect their ability to carry out everyday activities such as reading or driving.

What problem/knowledge gap does it help address

A range of conditions can lead to nystagmus, including those affecting the retina – the light-sensitive tissue at the back of the eye. Because of this, it is difficult to treat the cause of nystagmus as this can vary from person to person.

Recent work has identified a specific group of cells in the retina that become over-active and cause nystagmus across people with different inherited conditions. There is potential to target the over-activation of these cells and ultimately reduce the involuntary eye movements found in those with nystagmus, without treating the initial cause of the condition.

Aim of the project

To identify and test a ‘promoter’ – a short stretch of DNA (genetic material) – that could target and deliver treatment to the over-active cells in the retina.

Key procedures/objectives

1. Identify four candidate promoters using online databases and software.
2. Test each promoter in mice and measure the activity in retinal cells using a fluorescent marker to determine which promoter is best.

Potential impact on people with sight loss

Targeting the retinal cells that cause nystagmus could reduce the side to side movements in the eyes and thus improve functional vision.