Mitochondrial diseases can occur at any age and present with various symptoms and features. Establishing the diagnosis of a mitochondrial disease can be very difficult, based on the clinical presentation alone. Genetic testing can reduce the time it takes to arrive at a patient’s diagnosis, clarify inheritance patterns and tailor medical management. Thus, reliable and sensitive mtDNA analysis is crucial for the prompt, accurate diagnosis of mitochondrial disease.
In this educational webinar led by Executive Director of Medical Tero-Pekka Alastalo, MD, PhD, and Bioinformatics Director Massimiliano Gentile, PhD, we will provide a comprehensive overview of the importance of quality in mtDNA analysis and what to take into account when assessing its performance. We will also introduce the clinical benefits of combining mtDNA analysis and panel-based testing of nuclear encoded genes, which can be a powerful tool for patients who present with a suspected genetic disease but for whom panel testing alone would otherwise be inconclusive.
- Review our mtDNA validation study and how the lack of a ‘gold standard’ in the field of mtDNA testing was resolved
- Provide an overview of key quality metrices as well as accreditation and proficiency testing
- Review Blueprint Genetics’ approach to mtDNA genome analysis
- Examine key challenges and potential solutions to consider when performing high-quality mtDNA analysis
- Discuss how mtDNA testing can improve diagnostic capabilities for individuals suspected to have a genetic disease
Webinar video and content: Copyright © 2020 Blueprint Genetics. All trademarks are property of their respective owners.
Tero-Pekka is the Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.
Massimiliano Gentile, PhD is bioinformatics director at Blueprint Genetics. He has vast experience in bioinformatics, especially in analysis of biological data from high throughput laboratory technologies, as well as in development of software and analysis pipelines. Upon completion of his PhD studies in cancer genetics at the University of Linköping, Sweden, he pursued postdoctoral studies in functional genomics at the University of Helsinki, Finland. He then joined the Bioinformatics Unit at the medical research institute Biomedicum Helsinki, analyzing and developing methods for data analysis of data from microarray and next generation sequencing technologies.