Rachel is MRC/UK Research and Innovation Fellow in Genomic Medicine University of Manchester.
“I have always wanted to be involved in research that has a direct impact on people living with a condition and it would be difficult to find a more motivating area of science than that which aims to better understand retinal disease so that new treatment strategies can be developed – ophthalmic genetics is well known to be one of the most pioneering areas of clinical research.
“It’s a really exciting time to be involved, since our understanding of genes involved in eye development and function has progressed so much in the last decade due to advances in DNA sequencing technologies. The UKIRDC team is harnessing this cutting-edge technology to further improve our ability to diagnose retinal disease and extend access to genetic testing for patients and their families, allowing them to make better informed choices and prepare them for the impact their diagnosis may have on their vision.
“Our work will also enable better understanding of the genes and pathways involved in retinal health and disease. The project will increase our knowledge of how all of these processes interact, giving a more complete picture of what’s happening in the retina and improving our ability to interpret the changes in a range of retinal dystrophy genes. Gaining insight into the function of a group of genes, or even just one, can lead us to identify patterns that apply to other retinal conditions. Ultimately, this provides a really strong basis for the development of more effective treatments for the whole community.
“I really do hope to continue my work in this area as my career progresses. This project would not be possible without the participation of people living with inherited retinal disease, and their courage is a constant reminder to me of why our efforts are so important.”