Switching off the genes that cause Best disease

Dr Amanda-Jayne Carr, UCL Institute of Ophthalmology - £170,000

Best disease is caused by a faulty gene, and leads to permanent sight loss. This research aims to switch off that gene to stop the progression of the disease, and the sight loss it causes.

What is the problem?

Best disease is a genetic condition that causes a toxic protein to be produced instead of the healthy one. A build-up of this protein damages the retinal cells in the back of the eye. When these cells die this causes vision loss. Currently there are no treatments available for Best disease or other similar bestrophinopathies.

What are they doing?

Dr Amanda Carr is using gene editing to switch off the mutated gene that causes the production of the toxic protein. As Best disease is an autosomal dominant condition, only one gene needs to be faulty to cause the disease. Therefore, by switching off the faulty gene from one parent, this leaves the healthy gene from the other parent to do its job. 

Using cells grown from Best disease patients, they can test on real-life Best disease models to see whether this gene editing works.

How can this help?

If this works it could pave the way for gene testing to be used for Best disease and other autosomal dominant macular dystrophies, and genetic conditions in other disease areas.

Currently there are no treatments for genetic macular dystrophies, as these are often rare and have very specific or unknown causes. This work could pave the way for more treatments being available, and could be used before vision is lost.