Mutations in CFI gene: which are harmless or harmful?

Professor David Kavanagh, Newcastle University - £98,506

This project aims to analyse different mutations in the gene CFI, which has been shown to be highly involved in age-related macular disease (AMD). Some mutations have been strongly linked to an increased risk of developing AMD, but some mutations have no effect on your risk.

As genes code for proteins, changes in the gene can change how the protein is made, this work aims to see how different mutations in the CFI gene affect the protein produced. This can help us understand the risk of developing AMD and could lead to future gene therapies.

What is the problem?

Inflammation has been shown to be involved in AMD, leading to damage to the cells of the macula. One specific component of inflammation defence, called the complement system, has been strongly linked to AMD. A protein called Complement regulatory protein factor I (CFI) when mutated, has been found to increase the risk of AMD.

What are they doing?

When looking at different mutations in the CFI gene, it can be difficult to tell whether a mutation will be harmless or will cause a significant change to the protein produced. This project aims to create different mutant proteins and analyse how they are expressed, interact, and cause dysfunction.

How can this help?

By better understanding how mutations in the CFI gene cause damage this could lead to patients being screened for mutations in CFI gene. This could lead to clinical trials or treatments tailored to their mutation, with the hopes to improved and personalised treatments for patients.