Developing a gene editing technique as a potential treatment for Duchenne muscular dystrophy 

DMD is a progressive muscle wasting condition caused by a lack of dystrophin protein in muscles. Currently, no gene therapies have been approved for treating DMD in the UK.  

The challenges of the treatments presently available are that these therapies either need to be given more than once (and often every few weeks), or they only work for people with DMD who have genetic changes in specific areas of dystrophin. 

Professor Linda Popplewell and her PhD student aim to develop a new type of therapy that relies on a method that changes the DMD gene safely and effectively. This new method relies on a new type of molecular scissors to make small cuts (or nicks) in DNA, which allows for a small piece of DNA to be inserted into the space. That small DNA acts as a kind of beacon for the addition of larger DNA sequences that correct the mistakes in the DMD gene. This approach has been shown by another research group in the USA to be safe and could provide important therapeutic benefits. 

This PhD studentship study aims to test the molecular (nicking) scissors, and the DNA beacon described above on cells grown in a dish, and the amounts of dystrophin gene will be measured. If the results are positive, the researchers will then test these in mice that have had damaged human dystrophin gene inserted into their DNA to see if they can repair it. 

Developing a successful gene therapy based on this new ‘nicking’ system could provide a treatment option for many more people living with DMD, regardless of their genetic change in the dystrophin gene, following a single treatment. However, it’s worth noting that this is only at a development stage, and more steps are required before these treatments reach clinical trials.