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Gene therapy for muscle disease – mice study

Muscle cells

Using CRISPR gene editing, researchers in Germany have successfully corrected faulty genes that cause muscle disease, to repair the muscles of mice.


Muscular dystrophy (MD) is a group of genetic diseases caused by mutations in genes – such as the dysferlin gene – and leads to progressive weakness of the muscles and loss of muscle mass. Currently the available treatments manage symptoms, but are not a cure. 


The study, at the Experimental and Clinical Research Center (ECRC), a joint institution of EARA members the Max Delbrück Center (MDC) and Charité, developed a promising approach by genetically editing muscle stem cells, taken from patients with MD, to restore the function of the dysferlin gene.


The edited cells were then transplanted into mice with symptoms that mimic MD, and the team saw that the animals’ muscles began to regrow.


It is hoped that a future clinical trial will be able to investigate how the edited cells can be transplanted into MD patients.

Although this would not be a complete cure, Simone Spuler, at MDC, said: “We have over 600 muscles in our body and it is not easy to target all of them. We are starting very humble with targeting one or two muscles. But if this therapy works, it will heal the muscle.”

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