CRISPR is a very promising gene editing technique. We have funded the work of Dr Cohn, Chief of Clinical and Metabolic Genetics and Co-director of the Centre for Genetic Medicine at SickKids in Canada, who has used CRISPR to remove a duplicated gene and 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.

Results so far:

The next stage is xxx