Finding a way to correct genes that cause disease 

Inherited genetic changes are a major cause of blindness, particularly in diseases that affect the function of the retina (at the back of the eye) by leading to a loss of function in essential components of retinal cells. 

Stargardt disease is the most common cause of inherited central vision loss, affecting more than one in 10,000 people. Stargardt is caused by inherited mutations in the ABCA4 gene.

Traditional genetic tests have revealed errors in the ​‘coding’ parts of these genes, however recent advances in testing, such as whole genome sequencing, have shown that this may not be applicable to up to 20 per cent of ABCA4 patients. Instead, research suggests that there may be an error present in the non-coding regions of the genes (called ​‘introns’) that sit in between the coding regions (called ​‘exons’).

Led by Professor Mike Cheetham, a team of researchers looked at a type of gene therapy called antisense therapy (AON), which aims to correct the fault in the gene that causes the disease. 

The team grew retina cells from patients with Stargardt disease in the laboratory so they could deliver small pieces of DNA to the cells and try and correct the mistake. They did this by using an artificial ​‘mini-gene’ and screening a range of AONs for their ability to correct the genetic error.

This research aimed to provide proof of concept and the necessary robust data to underpin and advance further research, and ultimately develop gene therapy.