Primary mitochondrial diseases share in common an impaired ability to generate energy. Highly heterogeneous in etiology and phenotypes, primary mitochondrial diseases are collectively the most common inherited metabolic disorder and affect at least 1 in every 4,300 individuals. Now recognized to result from pathogenic variants in any of several hundred different genes, mitochondrial disease can be difficult to diagnosis, is often misdiagnosed, and may be challenging to manage given the multi-system involvement. However, there have emerged consensus management guidelines to standardize and improve patient outcomes. This symposium will provide up-to-date information for clinicians on the best diagnostic approaches, disease management practices, and emerging therapies. Sessions will include presentations and discussions with multiple mitochondrial disease clinicians and subspecialist experts, mitochondrial disease patients directly sharing their stories and experiences, and world leaders in Mitochondrial Medicine.
- Understand key features of mitochondrial disease and how to diagnosis a patient
- Discuss updated therapies and precision medicine in mitochondrial disease
- Discuss key features and management for organ specific concerns in patients with mitochondrial disease
- Douglas C. Wallace, PhD
- Zarazuela Zolkipli-Cunningham, MBChB, MRCP
- Rebecca Ganetzky, MD
- Elizabeth M. McCormick, MS, CGC
- Amy Goldstein, MD
- Todd Kilbaugh, MD
- Tomas S. Aleman, MD
- Shana E. McCormack, MD, MTR
- Kathleen E. Sullivan, MD, PhD
- Kristin Fiorino, MD
- Ulf Beier, MD
- Xilma Ortiz-Gonzalez, MD, PhD
This seminar focuses on human genetics and was delivered at a virtual event titled, “1st Annual Mitochondrial Medicine Education Day,” on September 14, 2020.
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