EYEGENOM: Genomic and Molecular Research in Inherited Eye Disease
Research type
Research Study
Full title
Exploring the Genomic and Molecular Basis of Inherited Eye Disease (EYEGENOM)
IRAS ID
342843
Contact name
Siying Lin
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
5 years, 0 months, 31 days
Research summary
Inherited eye diseases are genetic conditions that affect how the eye develops and functions. They can cause a wide range of vision problems, from poor sight at birth to gradual loss of vision later in life. These conditions are a leading cause of blindness in both children and working-age adults.
Although genetic testing has improved diagnosis for many people, about 4 in 10 individuals still do not have a clear genetic explanation for their condition. Even when a diagnosis is made, it is often difficult to predict how the condition will progress or which treatments might help.
This study aims to explore the biological processes behind inherited eye diseases, and how changes in a person’s genes may lead to vision problems. Researchers will use advanced techniques (sometimes called “multi-omics”) to study genes, proteins, and other molecules influence eye development, structure and function. The aim is to understand how these conditions develop and change over time, and to help identify better ways to diagnose and eventually treat them.
The study will include people with inherited eye conditions, and in some cases, their relatives. With permission, researchers will access participants’ existing clinical records (such as genetic test results or eye scans) and samples. Some participants may also be invited to provide an additional sample - such as blood, saliva, or skin - or take part in simple eye tests. These are optional, and participants can choose which parts of the study they would like to join.
The study is expected to run for five years and is based at the University of Manchester and Manchester University NHS Foundation Trust, with support from NHS clinical teams and research collaborators across the UK and internationally. It is funded by the Medical Research Council.
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
25/NE/0164
Date of REC Opinion
7 Oct 2025
REC opinion
Further Information Favourable Opinion