Mitochondrial disease is an inherited neurological disorder that underlies many very common illnesses of adulthood, including Alzheimer’s, dementia, Parkinson’s disease, diabetes, hypertension, heart disease, osteoporosis, cancer and even the aging process itself. In some cases, it is fatal.
This new initiative, in partnership with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN), will include physicians and scientists from 14 academic centres and hospitals in the first-ever study of clinical practice for mitochondrial disease.
The first priority is to better understand how patients receive care across Canada and how this system of care is organized. The team will also explore clinicians’ views on key research priorities and gaps in care. The aim is to stimulate high-quality research that will improve early detection, outcomes and health care services for Canadians living with the disease.
“For too long, many Canadians with mitochondrial disease have gone years undiagnosed or misdiagnosed, sometimes leading to tragic consequences.” said Blaine Penny, MitoCanada Foundation chair. “It’s time to get focused at the patient level and really delve into what we can do to make it better for those suffering across Canada as we speak.”
- At least one in 200 people carries a genetic mutation that can lead to mitochondrial disease or to it being passed on to his or her children.
- Mitochondrial disease is among the most common adult forms of inherited neurological disorders, affecting 1 in 4,300 people.
- The overall disease burden in Canada is unknown but significant, resulting in substantial direct and indirect health care costs to the patient and society as a whole.
- There are few effective treatments and there is no known cure.
CIMDRN is administered and supported by the uOttawa Faculty of Medicine and is co-led by Dr. Beth Potter, associate professor, School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa and Dr. Pranesh Chakraborty, director, Newborn Screening Ontario, and principal investigator, Children’s Hospital of Eastern Ontario (CHEO) Research Institute.
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