The Promise of Genomics

By pinpointing the cause of rare disorders, BC Children’s Hospital Research Institute is transforming the lives of patients and their families.

Everyone knows about the big health problems that affect kids, like cancer and diabetes — but mention Allan-Herndon-Dudley syndrome and you’ll most likely get a confused look.

That’s just one of the 7,000 rare diseases, which collectively affect one in 12 Canadians. Diseases like these attract little attention because individually each one affects so few.

This means that children and families often spend years on a frustrating, extensive and painful “diagnostic odyssey” to discover what is going on.

BC Children’s Hospital hopes to change that. Its CAUSES Research Clinic, funded by Mining for Miracles, provides genome-wide sequencing for children who have complex, undiagnosed disorders. In one single test, a patient’s entire DNA is scanned to find disease-causing gene mutations.

“Genome-wide sequencing is comprehensive, and we’re going in with an open mind because we look at all the genes at one time. Without sequencing, it is a very serial testing approach,” said Dr. Alison Elliott, Project Lead for the CAUSES Research Clinic.

The CAUSES Research Clinic is able to diagnose almost half of its patients. Some of those children will get treatment that can transform their lives. Not all patients will be as fortunate, since many rare diseases don’t have a cure. Patients and families will, however, find strength in being able to connect with other families, better understand the road ahead, or go into a clinical trial to treat symptoms.

Mining for Miracles is the mining community’s fundraising campaign for BC Children’s Hospital. Driven by a desire to fund cutting-edge projects that change children’s lives, the community has donated $3 million to help establish the CAUSES Research Clinic.


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