Genetic researcher shines spotlight on ‘first of its kind’ project for Rare Disease Day

Genetic researcher Dr Jamie Ellingford will be revealing all about his latest research, which hopes to find answers to why people develop macular dystrophies.

Dr Ellingford from the University of Manchester will be going into more detail on his Macular Society-funded project - The Manchester Eye Tissue Repository Genome-Transcriptome Project – on Monday (28 February) as part of Rare Disease Day.

He has described the study as the ‘first of its kind’ in the UK and plans to share more about the work and what he is hoping to achieve through the Macular Society’s social media channels.

The three-year project is focusing on how genetic changes influence the way genes are switched on and off in our eye cells and why some people with these gene changes go onto develop macular disease, while others may not.

Dr Ellingford said: “It’s the first of its kind, anywhere in the world. We want to unpick the genetic changes that can lead to sight loss conditions.”

Talking about his hopes for the project he added: “We hope one of the advantages of doing this is that it opens up avenues in the future to develop targeted treatments and to be able to directly treat or prevent blindness.”

Dr Ellingford will be sharing insights into his work, as well as his motivations for getting involved in genetic research. To hear more from Jamie on Rare Disease Day, or to ask him a question, follow us on Instagram and Twitter.

You can also hear more from Jamie by watching his full interview on our YouTube Channel

If you are not on social media but have questions about this project, email us at stories@macularsociety.org