Are there genetic differences between those who develop age-related macular degeneration and those who don’t?

200 million people worldwide have age-related macular degeneration (AMD), an incurable eye disease that leads to sight loss.

It’s thought that the immune system plays a key role in the disease. Immune cells called macrophages collect at sites of injury in the eye and help the body’s immune response, removing debris that could affect sight and regulating tissue repair. However, as we age, macrophages change and become less efficient, meaning diseases or inflammation are more common.

Macrophages appear to be affected in AMD patients, but it’s not known why. Disease modeller Dr Evangeline Foster secured Sight Research UK funding to try to find out.

Working with Dr Amanda Carr at UCL’s Institute of Ophthalmology, Evangeline used an advanced technique called RNA sequencing to examine the genetic differences between macrophage cells generated from healthy older and younger individuals and from AMD patients.

“This technique measured every single gene expressed by the cells, so it produced a lot of data,” Evangeline explains. “Our analysis showed differences in genes between the disease and non-disease groups, which is exciting because it means we will now be able to identify genes that are relevant to AMD.”

Understanding early changes in AMD at a genetic level is crucial. It will help scientists to identify clinically relevant biomarkers that could predict the risk of developing the disease and targets for drugs that could slow or stop its progression.

“This funding gave me a vital platform as an early-career researcher, and I’m so grateful for it,” Evangeline says. “I’ve been able to go to conferences to present our findings, and I’m now training others to use the same sequencing technique.”

“Not only has it helped me, but it will also have a snowball effect for future post-docs and for the lab itself. Having this data means we can apply for other grants which will build on our knowledge, taking us a step closer to finding effective treatments for AMD or even preventing it altogether.”