MitoCanada funds research to advance Rapid Diagnosis of Mitochondrial Disease: Reducing diagnostic timing from years to days through generation sequencing
Research Project: MITO-FIND
Mitochondrial Functional and Integrative Next generation Diagnostics
Individuals with mitochondrial disease will see, on average, eight doctors before receiving a diagnosis. Traditional methods of diagnosis include painful and invasive muscle biopsies, the results of which can take months to come back to the clinician.
At the University of Calgary, Dr. Aneal Khan conducts leading edge mitochondrial research focused on rare and inherited metabolic and genetic disorders.
MitoCanada granted $75,000 to Dr. Khan for the MITO-FIND project. These funds were also matched This innovative research study was designed to implement a rapid process to diagnose mitochondrial disease using next generation sequencing. The funding was applied to perform gene sequencing on patients presenting either in hospital or in clinic with a suspected mitochondrial disease. This included mostly reagent costs but also labour to run the gene sequencing.
Dr. Khan developed sequencing methods to provide next-day diagnostic results from gene sequencing for patients suspected of a mitochondrial disease. His methods eliminate the need for a muscle biopsy in the majority of patients and, in some cases, shorten the time to diagnosis from two years to two days.
These mitochondrial-targeted rapid sequencing methods can be applied to any sample from a simple cheek swab and provide results to anyone in the world.
Mitochondrial diseases have high morbidity and mortality rates. While the diagnostic task was made easier by the MITO-FIND project which sets a new standard for diagnosing mitochondrial disease, it is important to note that until a cure is found, we need to continue efforts to find effective treatments, improve access to diagnosis across Canada and help families living with mitochondrial disease. We need to understand how to improve lives of patients using existing drugs as well as developing new drugs.
Dr. Aneal Khan | Professor of Medical Genetics and Pediatrics, University of Calgary Cumming School of Medicine
MitoCanada Has been instrumental in proving an opportunity to advance the art of diagnosis of mitochondrial diseases in Canada. –Dr. Aneal Khan