Earlier this year we announced a funding collaboration with Dr Ronald Cohn, at the Hospital for Sick Kids in Toronto, and his work on the the highly promising gene editing tool, CRISPR.

This week, in the American Journal of Human Genetics, Dr Cohn announced that he has successfully used the technology to restore protein function in cells from a child with Duchenne Muscular Dystrophy. He used cells from Gavriel Rosenfeld, a 14 year old boy from the UK. 

CRISPR acts like a pair of genetic scissors, and Dr Cohn has shown that it can not only remove the genetic duplication in DMD, but can also fully restore the gene’s function. The result is that the dystrophin protein which is absent in DMD boys, was restored to its full length. Although there are still many hurdles to overcome to get to the clinic, this is an extremely promising therapeutic area for DMD. 

“CRISPR is the most important technology that I have encountered in my scientific career thus far. Working with patients and families with genetic disorders, I’m often in a position where I can provide a diagnosis, and perhaps supportive care, but no treatment. CRISPR could change that. It could revolutionise the way we care for patients with currently untreatable genetic conditions,” says Dr Cohn, who is principal investigator of the study, and Chief of Clinical and Metabolic Genetics and Co-director of the Centre for Genetic Medicine at SickKids.

This is the first time that this has ever been done, and we at DCT are so proud to be co-funders of this important project. 

A heartfelt thanks to every one of you who has helped us to fund this research.

The next step will be to re-create Gavriel’s duplication in a mouse model in order to develop a therapy for this particular patient. The biggest challenge will be to determine how to deliver the treatment and edit the genome in a living being. There are still many steps before this can be tested in humans. But this is a very important milestone on that road. 

Another exciting aspect of CRISPR is the speed at which it can operate. It used to take up to 18 months to create a mouse model; now using CRISPR, it only takes four to five months, bringing more momentum to our efforts to End Duchenne in 10.