At SickKids, my research team and I are working tirelessly in the lab to revolutionize the treatment for genetic diseases, particularly Duchenne muscular dystrophy (DMD). We have been using a groundbreaking genome editing tool called CRISPR, which acts like a pair of genetic scissors, snipping out and replacing precise pieces of DNA that code for disease.
So far, we have been able to demonstrate the restoration of some muscle cells in patients with specific genetic deletions and duplications, and preliminary results for a strategy that could restore the full protein in these patients. My lab has successfully created two mouse models for DMD, with mice carrying the exon 18-30 duplication and also mice with a deletion of exon 52-54. These mice represent an appropriate model to test the CRISPR gene-editing approach in a living organism. This is the first time that anybody has used CRISPR technology to generate patient-specific mutations in the dystrophin gene in mice. In the fight against genetic diseases, these models are a very valuable tool for the entire scientific community.
CRISPR is the most important technology that I have encountered in my scientific career thus far. It has the potential to transform the way we care for patients with untreatable genetic conditions, such as DMD. SickKids is the primary Canadian site for multi-disciplinary care and initial diagnosis of DMD, as well as for clinical trials. We are leading the way in developing new therapies for DMD with a special emphasis on gene therapy and gene editing.
In my main role as the Chief of Paediatrics at SickKids, I continue to treat DMD patients both from Canada and abroad, so I am able to see first-hand how this research could revolutionize the treatment and care for patients, sooner rather than later. I am extremely grateful to Jesse’s Journey for supporting my research, which would simply not be possible without your philanthropic support.
Dr. Ronald Cohn
The Hospital for Sick Children