Investigating a revolutionary gene therapy technique for Usher syndrome

Posted on: Friday, September 14th, 2018



Thanks to support from our wonderful community, including those who participated in the Big Give Christmas Challenge last year, we have been able to commit funding to a three-year research project into a potential gene therapy treatment for Usher syndrome, led by Dr Mariya Moosajee at UCL Institute of Ophthalmology.

Usher syndrome is the most common cause of deaf-blindness worldwide, with a significant proportion of cases being caused by mutations in the USH2A gene. USH2A is a large gene, too big to be carried by the viruses traditionally used to deliver gene therapy. Dr Moosajee and her team will therefore work on adapting a non-viral gene delivery system known as S/MAR for the potential treatment of the condition.

The researchers have already generated a synthesised version of the instruction sections of the healthy USH2A gene, which can be inserted into the S/MAR vector delivery system. A person affected by Usher syndrome has also volunteered to donate some skin cells, which can then be converted into stem cells and used to create a “retina in a dish” model of the disease.

The team will be able to study the effects of USH2A mutations in this human cell model, as well as evaluate the impact of delivering healthy copies of the gene via S/MAR vectors. A zebrafish disease model will also be used to help the researchers investigate the effects of the treatment on visual function, toxicity and long term gene expression.

The successful use of S/MAR vectors could revolutionise the treatment of a wide range of inherited retinal diseases, not just Usher syndrome, by providing a safer and more applicable form of gene therapy, so we very much look forward to seeing the outcome of this project.