A man in a lab looking through a microscope

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 such as retinitis pigmentosa.

The challenge

Inherited retinal diseases (IRDs)

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Inherited diseases of the retina are the second commonest cause of sight loss in childhood and the commonest cause in the working-age population, and for the most part there are no effective treatments.

Loss of vision is caused by the gradual loss of function and eventual death of the light-sensitive cells in the retina.

400

There are over 400 different genetic causes of inherited retinal diseases, with two of the most common conditions being retinitis pigmentosa and Stargardt disease.

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. 

Retinitis pigmentosa is one of the most common forms of inherited retinal disease.

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 James’ 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

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Retinal organoids are 3D structures derived from human pluripotent stem cells. By and large, 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 X-linked retinitis pigmentosa (RP2) and Stargardt disease. 

Project Details

Funding scheme

Research project grant

Grant holder

Prof Jim Bainbridge

Area(s) of work

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

Award level

£100,000

Start date

July 2019

Grant reference

GR001063