Primary mitochondrial diseases share 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 focus on clinical research and family support services. Sessions will include presentations and discussions with multiple mitochondrial disease clinicians and subspecialist experts in addition to a lunch panel with mitochondrial disease patients directly sharing their stories and experiences, and world leaders in Mitochondrial Medicine.
- Understand key features of primary mitochondrial disease
- Discuss updated therapies for mitochondrial disease and progress toward the pursuit of precision mitochondrial medicine
- Discuss multi-disciplinary management for patients with mitochondrial disease
- Marni Falk, MD
- Colleen Clarke Muraresku, MS, LCGC
- Laura E. MacMullen, BA, CCRC
- Sara Nguyen, BS-MPH
- Arianna K. Stefanatos, PhD
- Laura Adang, MD, PhD
- Jean M. Flickinger, PT, DPT, PCS
- Kathleen D. Valverde, PhD, LCGC
- Stephen Hrabovsky, LCSW
This seminar focuses on human genetics and was delivered at a virtual event titled, “Mitochondrial Medicine CME Day: Advancing Clinical Care, Research and Support,” on September 20, 2021.
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