International gift to impact Duchenne Muscular Dystrophy research at SickKids
The target is ambitious. Beat Duchenne Muscular Dystrophy (DMD) in a decade. Or as the Crossley family has adopted as their mantra for their charity The Duchenne Children’s Trust: End Duchenne in Ten.
In 2012, Emily and Nick Crossley’s world fell apart when their son was diagnosed with DMD, a rare genetic disorder that affects approximately 1 in 3,500 boys. Children born with DMD are unable to produce the protein needed for muscle strength and function. Over time, their muscle cells weaken and gradually break down, including the muscles used for breathing and the heart. Eventually, the weakness makes walking more difficult. By the time a child has reached the age of 12, a wheelchair is required and by their late teens, children are often paralyzed.
Emily and Nick are taking action to make a difference for all families impacted by DMD. Shortly after their son’s diagnosis, the Crossley’s started The Duchenne Children’s Trust, which is based in London, England. Its mission is to fund clinical research and trials for treatments that will help children and young adults living with Duchenne Muscular Dystrophy worldwide.
“We won’t be limited by lack of ambition. We won’t be limited by borders. We make big investments in big projects. And we fund the best research in the UK and around the world,” said Nick.
Funding the best around the world includes a recent gift of $250,000 to fund the work of Dr. Ronald Cohn, Chief of Clinical and Metabolic Genetics at The Hospital for Sick Children (SickKids).
“We met Dr. Cohn through an organization in the UK called the Duchenne Research Fund,” said Emily. “He very kindly took the time to meet our son and shared with us the exciting work he is doing with CRISPR. This technology could have a big impact as a future treatment for DMD, and we wanted to help support his work in this new and exciting field.”
Dr. Cohn feels privileged and honoured to be recognized by The Duchenne Children’s Trust for the work he is doing with CRISPR technology.
"This is the most exciting research I have ever been involved in"
“This generous gift will provide us the opportunity to get more people involved in the project,” said Dr. Cohn. “Having more resources allows us to do the necessary experiments in a more efficient manner which will, in turn, give us the opportunity to answer a lot more important questions. It’s especially exciting to know that others support and recognize what we have long believed at SickKids – global collaboration is important in the healthcare field.”
About a year and a half ago, Dr. Cohn began to look more deeply into CRISPR, a genome-editing technology that allows for the precise manipulation of DNA in the nucleus of any cell. Dr. Cohn sees this technology changing the landscape of how genomes can be edited and providing new insights and opportunities into gene editing for therapies.
“CRISPR could provide an opportunity to improve the quality of life for those affected by DMD,” said Dr. Cohn. “This is a disease that doesn’t have many treatment options at the moment.”
Dr. Cohn’s work is honing in on how CRISPR could impact those diagnosed with DMD. Much of his work has been focused on patient’s muscle cells in a petri dish to see how CRISPR affects these cells. One of the important next steps will be to test whether this technology can be applied to living organisms such as mice, which is a necessary pre-clinical step to potentially move this technology forward as a treatment option for patients. One day, he hopes to not only move his work forward to those diagnosed with DMD, but to also make an impact on other neuro muscular conditions.
“Gene-based therapies and interventional genomics are really beginning to take shape,” said Dr. Cohn. “The entire field has recently been re-energized. CRISPR technology is a promising treatment that I would, one day, like to bring out of the laboratory and into the clinic to treat patients.”
It is thanks to the generosity of organizations like The Duchenne Children’s Trust that researchers like Dr. Cohn are able to progress in their work to try and improve the quality of life for children impacted by Duchenne Muscular Dystrophy. Not only will these funds help Dr. Cohn answer more questions pertaining to the treatment of Duchenne Muscular Dystrophy, but his discoveries could have a broader impact on other genetic disorders.
“This is the most exciting research I have ever been involved in and I hope that our work will have an impact on boys with Duchenne Muscular Dystrophy within the next few years,” said Dr. Cohn.
