A team of researchers led by University of Ottawa assistant professors Beth Potter and Pranesh Chakraborty from the Faculty of Medicine has been awarded a total of $1,490,492 by the Canadian Institutes of Health Research (CIHR) for a project that will position Canada as a leader in evidence-informed health care for children with rare diseases, particularly those caused by inborn errors of metabolism (IEMs).
IEMs are a group of more than 400 genetic disorders that involve defects in one or multiple metabolic pathways and that are considered rare individually (a birth prevalence of 1 per 10,000 to 1,000,000). A rare disease is one that affects a small number of people compared with the general population. In general, a disease is considered rare when it affects fewer than one in 2,000 people. These diseases are often chronic and life-threatening. Drs. Potter and Chakraborty will explore innovative ways to develop effective health care for Canadian children with IEMs.
The team will develop a unique information system to track patient health outcomes, the use of health services and treatments children receive. The system will also include the child's and parent's self-reported experiences with the health care received.
Findings from this research will lead to important recommendations to improve patient care experiences and health outcomes in this population.
The funding is part of a broader pan-Canadian research partnership announced by the Government of Canada for research to transform fundamental biological research into medical practice and treatments in the area of rare diseases. The funding will support nine research projects, including the work of Drs. Potter and Chakraborty.
The University of Ottawa, one of Canada's top research-intensive universities, is working to improve the health of all Canadians through research. We are committed to excellence and encourage an interdisciplinary approach to knowledge creation, which attracts the best academic talent from across Canada and around the world.
For more information, read the CIHR news release.