Manchester Eye Tissue Repository Genome-Transcriptome Project

Dr Jamie Ellingford, University of Manchester - £249,950

This research will help our understanding of what gene changes, or combination of gene changes, are involved in macular dystrophies. Understanding the genes and the variants that are responsible for macular dystrophies is important, so that more patients can receive a correct diagnosis and to develop treatments for these genetic conditions.

What is the problem?

Many people with macular dystrophies do not have a genetic diagnosis, instead they are diagnosed based on what changes are seen in the macula. Even after getting a genetic test, the result may be inconclusive because the researchers are not sure if a change in the gene is causing the condition, as this change may also be found in those who are healthy.

Further work is needed to understand how these gene changes, or combination of changes, can affect or lead to macular dystrophies.

What are they doing?

Researchers are using a large repository of donated human eye tissue to understand how genes are expressed in different layers of the retina. Gene expression is the process by which the instructions in our DNA are converted into a functional product, such as a protein.

They will also look at common and rare gene changes and how these changes impact the activity of the genes in the retina. This work will help explain why some combinations of gene changes lead to macular dystrophy, while other changes do not.

How can this help?

This work can directly help those who do not have a conclusive genetic diagnosis. Receiving a correct diagnosis can help with better management of their condition.

This work may also highlight the key genes and gene changes that are involved in macular dystrophy, which could lead to further work in this area to find new treatments for these rare conditions.