As Dr. Michael Salter, Chief of Research at SickKids explains, “If all patients with rare disease are considered together as one group, their number would make them the third most populous country in the world. What we’re doing, as genetics and genomics become more integrated into everyday practice, is creating the research and educational infrastructure so that we can better diagnose and develop treatments for children with rare diseases. We are grateful to the Canadian Gene Cure Foundation and our SickKids donors for the funding that makes this possible.”
The objectives of the Advanced Therapies for Rare Diseases Initiative are underpinned by two fundamental beliefs: one, every individual with a rare disease deserves an accurate genetic diagnosis, and two, all individuals with a rare disease deserve hope – in the form of treatment.
"When children and families across Canada living with rare diseases – and their physicians – know what they’re dealing with, we can explore the avenues for treatment.”
Research and education are pillars of the initiative. Competitive grant programs will support new projects and junior investigators. Education, including workshops and webinars, will teach clinicians and scientists how to apply the principles of whole exome sequencing (the 1 per cent of genes that code for proteins, where most gene mutations lie) and genome sequencing in the clinic.
The initiative’s national scope is its fundamental strength. A National Clinical Network for Rare Diseases and a National Grand Rounds in Rare Diseases will be first off the ground.
As Dr. Jim Dowling, co-lead of the initiative with Dr. Monica Justice, and the physician who will lead the National Grand Rounds, says, “If we can work with our partners across the country to develop a national clinical network, we can create a genetic database we can all tap into – a child in Vancouver could be compared to a child in Toronto, generating clues that may lead to a diagnosis.”
He continues, “Ultimately, what we hope to achieve is bringing diagnostics to the general practitioner. Our goal is to provide hope. When children and families across Canada living with rare diseases – and their physicians – know what they’re dealing with, we can explore the avenues for treatment.”
In setting these objectives, the stated mission of the CGCF – to bring treatments to patients affected with rare diseases – is carried forward.
“The Canadian Gene Cure Foundation is excited to be the catalyst for a new, national, rare disease initiative that will bring together research, education and training to provide better diagnosis and care for patients with rare diseases in Canada,” says Sandra MacPherson, Chair of the Board, CGCF. “This Legacy Fund grant is only possible because of the support we have received from partners, including the Canadian College of Medical Geneticists and the CIHR Institute of Genetics, and private and corporate donors, including founders of Aspreva Pharmaceuticals and Xenon Pharmaceuticals, to whom we are very grateful. We are confident that Drs. Justice and Dowling and their team will use this grant to enable collaboration and research that will make a real difference for patients with rare diseases.”