Please note that this was recorded in 2017. All AMPEDTM content is reviewed and approved annually by the Training & Education Committee as relevant and accurate, but new data may now be available and new studies may have since been published.
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Description:
In this session, the speakers will provide an overview of genetic-based mitochondrial disease. This will include a discussion of the dual-genome etiology, substantial clinical heterogeneity across all ages, and emerging therapeutic options. Recent genomic sequencing technologies have greatly enabled diagnostic success for these more than 300 distinct genetic diseases. The speakers will also provide a state-of-the art update on prevention of mitochondrial DNA diseases using new in vitro fertilization techniques.
Overview of Mitochondrial Disease and Nuclear Genetic Causes
Marni J. Falk, MD, Children's Hospital of Philadelphia, Philadelphia, PA, USA and University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA
Mitochondrial DNA Disease: Etiology, Diagnosis, and Prevention
Sir Doug Turnbull, MBBS, MD, PhD, Newcastle University, Newcastle, UK
Learning Objectives:
- Recognize that mitochondrial diseases are collectively common genetic conditions due to either nuclear or mtDNA mutations.
- Acknowledge that the diagnosis of mitochondrial disease can be challenging due to marked clinical and genetic heterogeneity.
- Discuss how NGS diagnostic techniques have transformed the diagnosis.
- Recognize that current treatment of mitochondrial disease is largely symptomatic, but new therapies are emerging and IVF technologies allow potential to prevent disease transmission.
Duration: 1.50 hr
Recording Date: November 18, 2017
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