Long-read Sequencing for the Diagnosis of Primary Mitochondrial DNA Disorders

28 Jan 2026
Main Stage
  • Exploring the diagnostic power of long-read sequencing for mitochondrial DNA, with a focus on heteroplasmy detection 
  • Why long reads offer a superior approach for identifying clinically relevant low-level variants 
  • Bridging research and diagnostics – our effort to translate long-read technologies into routine clinical practice 
Speakers
Robert Pitceathly
Robert Pitceathly, Professor of Clinical Neurology and Mitochondrial Medicine - University College London