A research team at Queen Mary University of London (QMUL) has developed new cell-based technologies to gain better insights into Duchenne muscular dystrophy (DMD), a genetic muscle wasting disorder.
The new approaches are also intended to aid in testing potential drug candidates for the disease, which currently lacks effective treatments.
Using gene editing and stem cell technology, the team created a model with human DMD cells. The model is intended to duplicate the working in patients’ muscles.
The researchers plan to utilise induced pluripotent stem cells, which are adult cells reprogrammed to an embryonic state to grow the required type of body cells such as skeletal or cardiac muscle cells.
In order to precisely establish functional differences between DMD and healthy cells, the CRISPR gene editing tool was used to accurately alter the genetic code in DMD patients’ stem cells to ‘fix’ it and generate a healthy muscle cell but with the same genetic make-up as the original cell.
QMUL Blizard Institute researcher Dr Yung-Yao Lin said: “Dystrophin is the largest gene in humans, comprising 2.4 million base-pairs and 79 separate protein-coding regions. This makes it one of the most difficult genes to correct, but we’ve managed to do it.
“We can now use DMD patient skin cells which are stored in the biobank, and turn them into stem cells to generate an unlimited supply of skeletal and cardiac muscle cells in culture dishes.
“Our genetically-corrected stem cells will also help us establish a cell-based platform to test future drug candidates.”
The new cell-based technologies for DMD will be further developed under the Rare Disease Consortium Initiative, which is the result of a five-year alliance between Pfizer and the Global Medical Excellence Cluster.
QMUL is one of the university partners for the initiative that offers framework and resources required for the research and development of new rare disease drugs.