uOttawa researchers receive significant funding to investigate rare diseases, IBD and childhood arthritis

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“With this funding, we hope to not only have a positive impact on the lives of patients but also realizing a reduction in economic consequences.”

– Dr. Alain Stintzi

The University of Ottawa Faculty of Medicine and Children’s Hospital of Eastern Ontario (CHEO) research in rare diseases, inflammatory bowel disease (IBD) and childhood arthritis is being supported with new funding from Genome Canada and the Canadian Institutes of Health Research (CIHR). This new funding will allow researchers to expand their important work in improving the lives of children in Ottawa, across the country and around the world.

More than 7,000 rare genetic diseases have a devastating impact on an estimated one million Canadians. The genetic cause is unknown for one-third of rare diseases (i.e., the rare disease is unsolved), preventing accurate diagnosis and informed care. With almost $13 million in funding, the Harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada (Care4Rare-SOLVE) project will work to identify the genetic causes of unsolved rare diseases and make genomic sequencing available to Canadians for diagnosis.

“When a child is sick, his or her family and care providers want to know as early as possible the cause of the child’s challenges so they can manage them effectively. When the disease is rare, it is difficult to optimize disease management,” says Dr. Kym Boycott, Professor of Pediatrics at the University of Ottawa, Senior Scientist at the CHEO Research Institute, and global expert in rare disease diagnosis. “With this new funding from Genome Canada and CIHR, we will be working with other centres across Canada to more than double our current ability to diagnose unsolved rare disease as well as build the infrastructure and tools needed to improve rare disease diagnosis worldwide.”

In addition, the University of Ottawa and CHEO will co-lead a microbiome-based precision medicine in inflammatory bowel disease initiative. Canada has one of the highest rates of IBD in the world, with an estimated 233,000 patients, including 5,900 children. Researchers Dr. Alain Stintzi at the University of Ottawa and Dr. David Mack at CHEO will study functional outcomes of the altered intestinal microbes present in IBD patients.

“Not only does IBD prevent patients from living their lives to the fullest, holding children back from school and play and keeping adults away from work and family life, it is estimated to cost the Canadian economy about $2.8 billion a year in lost wages and productivity and treatment costs,” says Dr. Stintzi. “With this funding, we hope to not only have a positive impact on the lives of patients but also realizing a reduction in economic consequences.”

The $9.1 million project will set the stage for future clinical trials aimed at restoring IBD patients’ microbes to a healthy state.

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