CRISPR for DuchenneGenome editing technology to correct the mutated dystrophin gene
Sick Kids’ President and CEO Dr Ronald Cohn has already had significant success as the first researcher to correct duplications in human cells in the lab, using CRISPR technology. Dr Cohn, Daria Wojtal and their team have since been working to achieve the same results in mice that have Duchenne duplications, and have so far seen exciting results.
The aim is to translate this into boys and young men with Duchenne in the future.
Although CRISPR has been widely used as a research tool, its potential in far-reaching therapeutic applications has largely been unexplored, explains Dr Cohn. “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.”
Duchenne muscular dystrophy is caused by a mutation in the dystrophin gene, which results in the absence of full-length dystrophin protein, needed to protect muscles. Without this protein, the muscles waste.
Current gene therapy clinical trials involve administering a ‘microdystrophin’ – a shortened form of the correct gene – with the aim of overriding the effect of the mutated gene. The dystrophin gene is the longest known gene in the body, and a full-length version is too large to deliver into the cells using existing drug delivery technology, so this shortened form is used.
However, recent advances in genome editing technologies based on CRISPR/Cas9 technology have the potential to correct the gene, returning it to the correct full-length version of the gene. Rather than ‘sending in’ a shortened version of the gene, this more recent approach aims to correct just the mutated part of the gene. In the case of patients whose mutation is a duplication (where a part of the genetic code is repeated twice) the CRISPR approach entails sending in ‘genetic scissors’ into the cells to ‘cut out’ the duplicated part of the gene, restoring the correct full-length dystrophin.
Check back here and in our news section in the coming months to find out how this project is progressing.
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How does CRISPR differ from other treatment approaches?
Other CRISPR updates
Watch the highlights of Gavriel Rosenfeld in conversation with Dr Ronni Cohn at our virtual Evening with the Duchenne Research Fund. More than 500 people watched our virtual event to hear Gavriel talk about living with Duchenne, mental health, juggling school and hospital visits, and more …
On Wednesday 17th March the Duchenne Research Fund hosted a virtual evening giving supporters an update on ongoing research funded by the charity. We were so thrilled that Gavriel Rosenfeld, the son of the DRF’s founders Kerry & Doron Rosenfeld, joined the virtual event …
We are delighted to share the news that Dr Ronald Cohn, the head of the DRF’s Scientific Advisory Board, has been made President and CEO of the Hospital for Sick Children …
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