Up for the Health Challenge
The challenge:
When you think of rare diseases, it’s easy to assume that they may not affect that many people, but the Canadian Institutes of Health Research says as many as 446 million people around the world are impacted by them. The major issue is that there are more than 7,000 rare genetic diseases, according to the National Institutes of Health and there are treatments for only about 5% of them.
These numbers are staggering, and troubling, especially when you consider the physical, emotional and financial ordeal it is for people to get diagnosed. In fact, the majority of patients with rare genetic disorders remain undiagnosed. But what if there was a way to change that?
What are we doing about it:
For years, Ontarians have been hearing about challenges in our health care system but there are many silver linings.
One of them is the groundbreaking work Dr. Bekim Sadikovic at the Lawson Health Research Institute and London Health Sciences Centre has been doing in partnership with biotech company, Illumina. In their quest to better detect rare diseases, Dr. Sadikovic has created the clinically validated EpiSign™ test, which uses machine-learning algorithms and compiles DNA signatures into the EpiSign™ Knowledge Database.
How it works:
Thanks to funding from Ontario Genomics, Genome Canada and their Genomic Applications Partnership Program (GAPP), the EpiSign™ project is helping doctors cut down on long and agonizing diagnosis wait times by efficiently bringing answers and treatment options to more of the 1 in 15 Canadian children born with a rare genetic disease.
Not only does this mean peace of mind and quicker access to the right support for those children, it’s critical relief to our health care system by speeding up the diagnosis process and easing the pressure on hospitals since 1 in 4 pediatric hospital beds are occupied by a child with a rare disease.
This incredible work has been an evolution. After all, projects like these don’t happen overnight! It takes many years of collaboration and many rounds of funding. When Dr. Sadikovic’s team applied for their first round of Genomic Applications Partnership Program (GAPP) funding in 2019, they were able to detect 19 different disorders across 30 genes. Five years later, the most recent version of EpiSign™ has 116 different indicators covering 126 disorders. This number will only continue to grow in the years to come and while this much needed innovation was created here in Ontario, it’ll be a benefit to the rest of the world.
Meet the Team:
- Dr. Bekim Sadikovic
- Lawson Health Research Institute
- London Health Sciences Centre
Funded by:
Ontario Genomics and Genome Canada.
