What is the focus of your research?
We’re looking at identifying and diagnosing rare, inherited genetic disorders using a rapid approach called next-generation sequencing.
Why is your research important?
It’s estimated that one in twelve Canadians, including adults, has a rare disease. If we focus on pediatrics, as many as 400,000 Canadian children have some form of rare genetic disease. Our work focuses on identifying the genes that cause these diseases so we can give an accurate diagnosis to the family, and can intervene and potentially prevent some of the complications that may develop over time.
What is the long-term goal of this kind of research?
Potentially, we should be able to get to a place where we can take a sample from a child with a certain symptom, such as a blood sample, and look at the sequences of all of their genes and say “These changes tell us that your child has this symptom because of this disease and here’s what we can do to help your child now ….”
Your work here at the CHEO Research Institute has really taken off.
Yes, it has. In February 2011 we received several million dollars in funding as a collaborative team called FORGE – Finding of Rare Disease Genes – in Canada. We’re studying 200 rare diseases to identify the responsible genes . So far we have identified over 20 genes and helped 100s of families and we estimate this project will eventually involve over 1000 families with rare diseases from Canada and across the world.
What’s on the horizon for you and your team?
Our goal is to continue to identify genes for rare diseases over the next year. This work is also important from an international perspective; in January of this year the International Rare Disease Research Consortium was launched with the goals to identify genes or all rare disorders and to develop 200 new therapies by 2020. Canada, and my team, will be integral to these efforts over the long-term.
What’s your vision for this research?
A Centre of Excellence at CHEO Research Institute focused on understanding, diagnosing and treating rare diseases.
The CHEO Research Institute’s vision is “Discoveries today for healthier kids tomorrow.” Is there a transferable lesson in what you do?
What we do is always bringing new knowledge forward to the clinic; if we study 100 disorders, we’re probably helping 1,000s of kids down the road. We are always looking at where and how we can have an impact – it’s about quality of life.View full profile