Closing in on a cure for Duchenne muscular dystrophy
Using an advanced gene editing technology called CRISPR, our team of scientists at UT Southwestern has been able to stop the progression of Duchenne muscular dystrophy in animals and human cells – a breakthrough that could ultimately change the prognosis for the most common fatal genetic disease in boys.
In many ways DMD is the holy grail of genetic diseases, with more than 3,000 mutations. As we make headway with CRISPR on this condition, all indications are that we could use the technology for almost any disease in which we can identify a mutation in a patient’s DNA.
DMD is a degenerative muscle disorder that affects 1 in 3,500 boys born worldwide and typically results in muscle and heart failure, eventually leading to disability and premature death. The associated gene mutation halts the production of the protein dystrophin, which is critical for muscle function. Dystrophin maintains the integrity of muscles like scaffolding.
Girls rarely develop DMD because they have two dystrophin genes, whereas boys have just one. A girl's healthy gene tends to override her mutated one, causing mild if any symptoms.
To date, just one drug has been approved to treat the symptoms of DMD. So, researchers at UT Southwestern’s Hamon Center for Regenerative Science and Medicine are working to develop a therapy that treats the cause of the disease – mutations in the dystrophin gene. In a 2018 study, we found that editing dystrophin genes in animals with DMD improved heart function by approximately 80% in just eight weeks.
Estimates suggest that just a 15% improvement in dystrophin levels would greatly benefit humans.
To date, we've also used CRISPR to successfully edit the dystrophin gene in cells from DMD patients. The next major step is a clinical trial that we hope will generate an effective therapy and eventually a cure for patients born with DMD.