Gene therapy has the potential to prevent or stop the loss of vision caused by genetic conditions. We’re funding a project looking to advance the pipeline of possible treatment options for common forms of inherited retinal disease.

The challenge

Professor James Bainbridge aims to develop new treatments for the benefit of people living with sight loss due to genetic diseases of the retina, the light sensing tissue at the back of the eye. 

The principle of gene therapy is to replace faulty genes that cause damage to retina with healthy copies packaged in modified viruses and thereby restoring cell function and protect vision. 

There have been some exciting advancements in gene therapy for rarer forms of eye conditions including one which, as of February 2020, is available on the NHS. Now that the infrastructure for clinical trials has been established, the challenge for clinical researchers is to develop effective therapies for more common forms of inherited retinal disease for the benefit of a greater number of people. 

In this project Jame team will generate and characterise models of the retina with selected genetic defects and investigate the exact mechanisms of how they cause harm to the retina. 

By also testing the impact of new treatments in the new laboratory model they will be able to prioritise candidates for further development. 

Finding a solution

Retinal organoids are 3-dimensional (3D) cell cultures, which provide invaluable models of inherited retinal diseases (IRDs) enabling the researchers to accelerate gene therapy development process. 

Retinal organoids

Learn more

Retinal organoids are 3D structures derived from human pluripotent stem cells. By enlarge, their features mirror those of the developing retina. While the back of the eye is relatively accessible – you can look at it easily and take photographs – you can’t experiment on it in living humans. Therefore, these retinal organoids represents an exciting opportunity to study how structures of the back of eye develop, what goes wrong in disease and to test potential treatments and interventions.

This model provides the opportunity to test the efficacy and specificity of vectors used to target specific diseases directly in human cells under measurable conditions in the laboratory. These are vital steps required ahead of moving into clinical trials.

This model provides the opportunity to test the efficacy and specificity of vectors used to target specific diseases directly in human cells under measurable conditions in the laboratory. These are vital steps required ahead of moving into clinical trials.

The potential

The ultimate aim of this research programme is to develop new therapies for blinding genetic diseases of the retina. 

Having focussed in the first instance on rare genetic diseases to establish clear proof of principle for gene therapy, this research programme underpins the ambition to extend the pipeline of gene therapies to include common blinding genetic diseases of the retina including as X-linked retinitis pigmentosa (RP2) and Stargardt disease. 

Project Details

Funding scheme

Research project grant

Grant holder

Prof Jim Bainbridge

Research area(s)

Genetics/​inherited eye disorders, Retinal/vitreo-retinal

Start date

July 2019

Amount awarded

£100,000

Grant reference

GR001063