Diagnostics changes from genomics and new technology
At a Perth Mito Information Day, Prof. David Thorburn provided an overview of the causes of mitochondrial disease and how the diagnostic process has been changed by genomics and other new technologies. David will discuss the value of an accurate genetic diagnosis in guiding clinical management and potential treatment options, enabling participation in clinical trials and identifying familial risks and reproductive options.
Understanding genetics and getting a genetic diagnosisView Video
Emma Celis and Prof David Thorburn break down the complexity of genetics to help you know the different types of variants that apply to mito. They then talk through a range of genetic testing options available and explore how and where to access genetic testing.
Understanding and managing painView Video
Prof Toby Newton-John is a Professor of Clinical Psychology and a practising Clinical Psychologist. In this video, Prof Newton-John discusses why we feel pain, the impacts of chronic pain, and the importance of pain management in maintaining quality of life.
Understanding the causes of mito to improve diagnosisView Video
Prof Zofia Chrzanowska-Lightowlers discussed how her team compares healthy cells against cells of people with various mitochondrial conditions to help uncover what causes mito and guide clinicians to tailor management strategies for individuals impacted by mito.
The Australian Patient Care Standards in practiceView Video
At the 2022 AussieMit Community Summit, Prof Carolyn Sue AM discusses the Australian Patient Care Standards for primary mitochondrial disease published in late 2021. These standards were developed by Prof Sue and a group of 21 mitochondrial healthcare providers to guide health professionals to offer the best possible care for people impacted by mito.