In the Department of Genetics our research focuses on inherited disorders of the eye - those diseases that are caused by harmful mutations (defects) in the genetic code (the instructions which control how our bodies work) and which can be passed down through families.
Our aim is to increase understanding of how these mutations cause disease, how these diseases progress over a person's lifetime and the further impact of other biological and environmental factors. We are also developing a range of new approaches to detecting, monitoring and treating these conditions.
We have five principal research areas in the department:
- Molecular Genetics
Over the years we have identified a number of previously unknown genes responsible for causing inherited diseases of the eye and have been able to clarify how mutation of these genes negatively affect the normal functioning of the eye.
- Gene and Cell Therapy
We have developed a number of experimental models of inherited eye disease and have been successful in replacing defective genes (gene therapy) and replacing damaged cells in the eye with new cells derived from embryonic stem cells (cell therapy) to restore aspects of vision. We have a growing clinical programme which aims to apply these techniques to patients and are responsible for the world’s first gene therapy trial in Leber’s Congenital Amaurosis caused by defects in gene RPE65 and the first European clinical trial using stem cells to treat a specific form of macular degeneration called Stargardt’s disease.
- Inflammation Biology
The local immune response (the body’s defence system) in the eye protects cells from disease and harmful agents. In some instances medical interventions such as gene and stem cell therapies to repair or replace damaged or dysfunctional cells, can be misinterpreted by the immune system as harmful causing it to attack or reject them which in turn reduces the potential for therapeutic benefit.
Our research aims to provide greater control over the immune response and give us the the potential to make the eye even more receptive to treatment by gene and cell therapies in the future.
In addition we are using gene therapy to modulate the local immune response in the eye and protect against harmful inflammation.
- Prof Andrew Dick
- Mr Richard Lee
Epidemiology helps us to understand how often specific diseases occur in specific groups of people and the reasons why. This enables us to identify and compare groups at high/low risk of certain diseases, help us to understand if the causes of these diseases are purely genetic or if there are other environmental factors at play and enable us to develop and implement meaningful screening and treatment programmes tailored to these groups.
Our work into biophysics (the use of physics as a way to study biological systems) focuses mainly on the inter-relationships between light and ageing, the mechanisms underlying age-related, diabetic and inherited retinal disease, and the development of lasers for use in ophthalmic diagnosis and surgery, in particular the development of the revolutionary Excimer laser for the correction of refractive disorders - in excess of 35 million procedures have now been undertaken worldwide.