Brief background
Wolfram syndrome is a genetic condition, typically beginning in childhood. Although this condition can affect many parts of the body, the main indicators are the development of diabetes and progressive vision loss.
As Wolfram syndrome has a genetic cause, it means that faults (mutations) in a particular gene are responsible for the condition, in this case, a gene called WFS1.
Retinal ganglion cells – one of the cells in the retina at the back of the eye – have long tails which stretch from the eye to the brain, known as the optic nerve. Both areas are affected because of the faults in the WFS1 gene, causing rapidly deteriorating vision.
What problem/knowledge gap does it help address
Currently, the progression of Wolfram syndrome is poorly understood, and there are no effective treatments for the condition.
Developing models of a condition can allow researchers to better understand how a condition progresses, which can also be used in the development and testing of future treatment options.
Aim of the research project
To develop a model of Wolfram syndrome using zebrafish, which will be used to gain a better understanding of the WFS1 gene in early development and the pathways leading to nerve deterioration.
Key procedures/objectives
Use the zebrafish model of Wolfram syndrome to:
- Analyse the development of the retina.
- Analyse the formation of the nerves connecting the eye to the brain.
Potential impact on people with sight loss
Understanding how vision loss progresses for people with Wolfram syndrome could allow researchers to target specific mechanisms in the treatment of the condition.