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Metabolics And Genetics In Calgary Clinic
Copyright © Aneal Khan. All rights reserved.
Mitochondrial disease is a group of over 30 diseases that interfere with the body’s ability to make energy. Younger patients often have more severe forms of the disease with seizures, growth and developmental problems, hearing and vision problems, and multiple organ dysfunction. Older patients can have muscle weakness, problems with balance leading them to fall, have strokes and dementia.
Mitochondrial diseases are all genetic diseases. Genes carry the information on how our bodies function. A problem with a gene, which can be a small spelling mistake in the genetic code – called a mutation – can cause mitochondrial disease. Looking for which mutation is causing mitochondrial disease by checking each of the 1,000 mitochondrial genes has not been possible with older technology. Newer technology now exists to look at the genes, which is called next generation sequencing. By focusing on the genes that have been shown previously to cause human disease, a targeting next generation sequencing panel can be performed in a shorter period of time than sequencing every gene.
Next Generation Sequencing for Mitochondrial Disease
The Mito-FIND project is committed to facilitating DNA testing for patients showing signs and/or symptoms of mitochondrial disease as determined by their physician.
To establish the fastest, least invasive, and least expensive method of diagnosing mitochondrial disease using targeted next generation sequencing to identify the causative gene and test whether this gene change causes an abnormality in mitochondrial function.
How it Works
Subjects interested in participating are asked to contact the research coordinator for more information. The research coordinator will review the objective, inclusion and exclusion criteria, and what they have to do. Subjects that wish to enroll will be sent a consent form.
The Metabolic Consultation letter identifying the possibility of mitochondrial disease and the specialist orders investigations for mitochondrial disease.
Full term infants from birth to any age.
Subjects willing to complete all requirements for participation in study.
The presence of severe inflammatory reaction (such as sepsis) during the time of investigation.
Patients diagnosed from a positive family history and known familial mutation.
This project is a collaboration between Dr. Timothy Shutt (University of Calgary), Dr. Stacey Hume (University of Alberta) and Dr. Aneal Khan (Principal Investigator, University of Calgary, Alberta Children's Hospital).
Contact us to obtain more information about the study.
*The results provided by the test in this study are only for research purposes only and are not clinically validated.
We are intend to recruit 30 patients to participate in this study.
This study has been approved by the University of Calgary Conjoint Health Research Ethics Board (REB-13-0753)