Can antisense therapy be used to correct genes that cause disease?

Research area: Macular degeneration
Aims and objectives

Inherited genetic changes are a major cause of blindness, particularly in diseases that affect the function of the retina by leading to the loss of function of essential components of retinal cells. Inherited mutations in the ABCA4 gene cause Stargardt disease, the most common cause of inherited central vision loss that affects over 1:10,000 people. Traditional genetic tests have identified mutations in the coding parts of genes, the exons; however, recent advances in testing, such as whole genome sequencing, have revealed that up to 20% of ABCA4 patients might have an inherited change that is not in their exons, but in the non-coding introns that sit in between the exons. 

Work being carried out

The study will look at a type of gene therapy called antisense therapy (AON) which aims to correct the fault in the gene that causes the disease.  This team will cultivated retina cells from patients with Stargardt disease in the laboratory so they can deliverer small pieces of DNA to the cells and try and correct the mistake.  They will start this by using an artificial ‘mini-gene and to screen a range of AONs for their ability to correct the mutation.  This will provide proof of concept that this change can be corrected with AONs.  

Outcomes and impact

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


Research details

Full Title

AON therapy for Stargardt Disease

Grant holder

Professor Mike Cheetham

Research Area(s)

Macular degeneration (Genetics / inherited eye disease)

Start date

January 2017

Award level


Funding scheme

Project grant

Date: 13 August 2018

Grant reference: R170028A