Using gene editing to stop progression of Stargardt disease

Prof Robert MacLaren, University of Oxford - £119,610 (co-funded with Retina UK)

New research into a gene editing therapy for those with Stargardt disease is being investigated at Oxford University. In Stargardt disease, the mutation in the ABCA4 gene means that the ABCA4 protein produced is faulty. This work aims to use gene therapy to create healthy ABCA4 proteins.

What is the problem?

Stargardt disease is the most common macular dystrophy affecting young people. Stargardt disease often causes central vision loss, which begins in childhood. Currently there are no treatments for Stargardt disease.

What are they doing?

Professor MacLaren and his team will be using a gene editing technique called CRISPR to correct the mutation that causes Stargardt disease. Instead of fixing the gene that causes Stargardt disease (ABCA4), they are fixing the copy of the gene code called the mRNA, this is what then makes the ABCA4 protein.

By fixing the mutation in the mRNA this means that the ABCA4 protein created is healthy and functional.

How can this help?

If this study works, this could lead to new treatments for Stargardt disease that can stop the progression of the disease, and stop further vision loss. This new technique could also be used for other macular dystrophies such as Best disease or Doyne honeycomb dystrophy.