Human Health
Care4Rare Canada- Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (C4R-SOLVE)
277C4R- Project Leaders: Kym Boycott, Clara van Karnebeek, Francois Bernier, Michael Brudno
- Institutions: University of Ottawa
- Budget: $1000000
- Program/Competition: Large Scale Applied Research Programs
- Genome Centre(s): Genome Canada
- Fiscal Year: 2017
- Status: Closed
There are more than 7,000 rare diseases in Canada, together having a devastating impact on some one million Canadians and their families. Two-thirds of the diseases cause significant disability, three-quarters affect children, more than half lead to early death and almost none has any treatment. The cause of more than one-third of these diseases is not known.
Accurate and early diagnosis of rare diseases will optimize care, improve the well being of patients and their families and provide new insights into these devastating diseases.
Building on the work of the Care4Rare Canada Consortium, the nationwide C4R-SOLVE project worked to identify the genetic cause of unsolved rare diseases and to facilitate access to clinical genome-wide sequencing.
The Care4Rare national project team recruited families who had a suspected genetic rare disease, but were still undiagnosed after clinical whole genome sequencing and developed a research protocol which used new genetic technologies called multi-omics.
They also accelerated novel gene discovery by identifying families with the same undiagnosed diseases, called patient matchmaking and by developing a “toolbox” of new functional tests (assays) to investigate and identify the genetic causes of these unsolved rare diseases. Through reanalysis, multi-omics, matchmaking and functional assays, the Care4Rare SOLVE project increased the diagnostic rate from 25% to 69% using these additional technologies.
The project team also built a depository for rare disease data, called Genomics4RD, to improve national sharing and analysis of this data and a governance framework for sharing it responsibly, which is now being used as a guide for other national and international research projects.
Additionally, in Alberta and Ontario, the project team partnered with the Ministries of Health, to make publicly funded genome wide sequencing available to Canadians and generate data to examine the diagnostic utility, clinical utility and cost-consequences in these provinces.
