Dr Mariya Moosajee at University College London is investigating preventing photoreceptor cell death in retinal dystrophies by regulating glucose metabolism in the retina

The retina is the light-sensing layer at the back of the eye that converts light into chemical
signals that pass to the brain to help us to see. There exists a group of eye conditions that
specifically affect the retina called inherited retinal diseases (IRD), which are caused by
abnormal changes (also known as mutations) in our genetic code. IRDs are the most common cause of blindness in working age adults in England and Wales, and the second commonest in childhood. Currently, there is no cure or specific treatment available to patients.

There are currently about 250 genes, that if mutated, cause IRD, so developing a gene therapy for each would be extremely challenging, time-consuming and costly. However, there could be another way of preventing retinal degeneration which focuses on a single, fundamental aspect of retinal degeneration: the death of photoreceptors.

Photoreceptors form one of several layers of cells in the retina and they are the light-sensing cells. The cellular degeneration which leads to the death of photoreceptors is central to visual impairment arising from most diseases that affect the retina. Recent advances in the understanding of the mechanisms of photoreceptor death have emphasised a particular aspect that could hold the key to preventing these light-sensing cells from dying. Research findings have shown that cellular death in photoreceptors is linked to a failure in energy production (metabolism), and in particular, a failure of sugar (glucose) being used by photoreceptors to produce energy.

Dr Mariya Moosajee is leading a research project with her team at University College London to seek to test the hypothesis that enhancing photoreceptor energy production can prevent or slow cell death, and therefore lead to the development of a universal treatment for IRDs regardless of their genetic basis.

The research team will assess the impact of several interventions on photoreceptor metabolism by monitoring the amount of energy molecules produced, oxygen usage, and patterns of gene function. Photoreceptor survival will be assessed by investigating the structure of the treated retina, measuring levels of cell death and testing the ensuing vision.

If the hypothesis is proved correct, Dr Moosajee’s team will be able to further develop this concept through additional funding or partnership with industry in order to develop a gene therapy using the most efficient candidate to enhance glucose uptake or metabolism. This project has the potential to prevent, halt or slow retinal degeneration by enhancing energy production in a vast number of patients with incurable blinding disease.

Find out more about retinitis pigmentosa - the most common type of IRD here.

Please help us combat this significant cause of blindness by supporting our appeal into all inherited retinal diseases.