Development of genome editing surgery with applicability to all living with Duchenne – Royal Holloway University

Dr Linda Popplewell summarised their research project as follows:

“The overarching aim of this project is to develop a gene therapy that requires a single administration with applicability to all Duchenne muscular dystrophy (DMD) patients.

The gene therapy we wish to develop is based on using a special pair of molecular scissors to cut DNA that will allow the insertion of a working copy of the dystrophin gene, delivered using a safe carrier, in a privileged and safe location.

Since we are delivering the dystrophin gene in a safe location, this gene therapy will be applicable to all DMD patients and will allow expression of fully functional dystrophin protein at levels to be of therapeutic benefit. Most importantly, the gene therapy to be developed is permanent in nature, removing the need for repeated long-term administration associated with some other therapies. The benefits of this as a therapy for DMD in terms of cost, immunological and toxicological risk are obvious.

The potential therapeutic implications of the work proposed within the six months of funding include:

• Establishment that knock-in of a working copy into a safe location is possible
• Establishment that this would provide permanent expression of functional dystrophin protein following a single treatment
• Establishment of a means to provide a gene therapy treatment for DMD that would have applicability to all patients”

Action Duchenne’s Director of Research added:

“We are delighted to see the progress made in the area of gene therapy and continue to support all its different approaches. We set this as an early priority in our research strategy, which is constantly under review.”