UCL

3

OFHS240178

Our research aims to understand why some people develop common eye diseases that cause blindness while other people do not. We will search for variations in genes which predict who will develop common eye diseases such as glaucoma (a condition in which pressure inside the eye causes damage to the optic nerve), age-related macular degeneration (damage to the centre of the retina in the eye) and diabetic retinopathy (damage to the retina in the eye due to diabetes). We will also examine which lifestyle factors may reduce this genetic risk, such as limiting alcohol intake. Our objectives include: - Describe how common the major eye diseases are in participants of Our Future Health (OFH). - Carry out studies to discover the genes which increase the risk of developing the major common eye diseases. - Examine the accuracy of tests based on genes for common eye diseases as applied to Our Future Health participants. - Combine our results from Our Future Health with previously published results to best define the genetic causes of common eye diseases. - Examine whether lifestyle factors (e.g. alcohol intake, diet and exercise) can modify genetic risk for common eye diseases. People fear losing their vision as much as developing dementia or cancer. Glaucoma and age-related macular degeneration are the leading causes of incurable blindness in the UK and globally. Treatments and lifestyle changes can prevent vision loss, but are more effective if started earlier, before symptoms have developed. Our previous work has demonstrated the potential of using genetic information to identify people at high risk of eye disease and blindness before they have developed the disease. This will enable preventative measures, avoiding irreparable damage to the vision. Our proposed study will enable us to demonstrate our genetic prediction approach and pave the way for future studies which will help us understand who should have a medical test for these conditions, and what lifestyle changes to recommend for people at high risk of blinding eye disease before they have developed it. Also, a better understanding of the genetic causes of common eye diseases can teach us about the causes of these diseases which can lead to the development of new treatments.

Being able to identify people at high risk of glaucoma with a genetic test will help us understand who should have further tests for glaucoma, allowing earlier diagnosis and prevention of permanent vision loss. For age-related macular degeneration, early lifestyle changes may reduce the risk of developing vision-threatening disease. Our genetic test may guide which patients will benefit most from these lifestyle changes. If genetic factors predict how a disease will progress, it will be possible to help decide which patients need the most intensive treatment to prevent blindness and which patients are at low risk, to avoid overtreating them. Similarly, it may become possible to select the most effective treatment for each individual patient using genetic information. Put together, this work can underpin innovative approaches to treatments so that we can find the right care for the right patients. These tests will also help us direct our medical resources to the patients who need it most. We expect that our work to identify the commonest causes of blindness will help the development of new drug treatments.

Public Health Research

26/02/2024

26/02/2024