Funding CRISPR at Sick Kids, in Toronto, Canada

In September 2015, we invested CAN$250,000 to fund the work of Dr Ronald Cohn, Chief of Clinical and Metabolic Genetics at Toronto's Hospital for Sick Children. His research involves using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats), a genome-editing technology, to allow the precise manipulation of DNA in the nucleus of any cell. According to Dr Cohn,  “The entire field has recently been re-energised. CRISPR technology is a promising treatment that I would like to bring out of the laboratory and into the clinic to treat patients." 

In December 2015, in the American Journal of Human Genetics, Dr Cohn announced that he had 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.

This is the first time that this has ever been done, and we at Duchenne UK are so proud to be co-funders of this important project. 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 on humans. But this is a very important milestone on that road. 

Funding CRISPR technology with Professor Francesco Muntoni, at University College London

Together with Muscular Dystrophy UK, we are co-funding a £180,000 three-year project by Professor Francesco Muntoni, of University College London. He is also looking at using CRISPR genome editing to repair deletions on the dystrophin gene, which accounts for between 10-15% of patients with Duchenne.

Both grants were made possible through the generous support of the Latham family, and their phenomenal fundraising event, Tri4Duchenne.