The BC Pediatric Society offers CME accredited evening Journal Club dinners, which feature a speaker and topic identified by the BCPS of interest and importance.
This series of presentations focuses on topics of interest to pediatricians. We survey our members to see what topics they want to hear about, so if you have a request, please let the BCPS Executive Director know at [email protected].
To view past Evening Journal Club Dinner presentations, please check out the Member Only site. Login required.
BCPS Journal Club Education Event
Part Two of a Two-Part Series on Mitochondrial Diseases
February 24, 2021 – 7pm
Mitochondrial Diseases, Diagnostic Approach and Management
Dr. Catherine Brunel, MD, FRCPC, FCCMG
1. Approaches to the diagnosis of mitochondrial disorder:
• Molecular testing: From Single gene to Panel to Whole Exome Sequencing and mtDNA sequencing and deletion/duplication.
• Biochemical testing in blood, urine and tissue.
• Functional validation of variants (VUS) in a clinical Diagnostic Laboratory.
• At the frontier of Research and Clinical Testing: what to do with unsolved cases.
2. Management of mitochondrial diseases:
• Single organ disease management, the crucial role of the multidisciplinary team.
• Anesthesia Considerations.
3. Energy metabolism management:
• How can we allow a better quality of life, how to handle reduce energy capacity – Therapeutic Agents, The Mitochondrial Cocktail, Diet, Exercise and Lifestyle.
Registration – [email protected]