Developing the next gen of mito medicine
At a Mito Information Day, Dr Richard Lee spoke about his research using a combination of genetically edited cells and patient cells to understand the fundamental mechanisms underlying mitochondrial diseases. He has discovered a novel multi-system mitochondrial disease spectrum caused by newly discovered variants in the mitochondrial gene CRLS1. He researched how breakdowns in key mitochondrial functions drive disease pathogenesis and identified lipid and protein signatures that can be used to increase the speed and accuracy of diagnosing this new mitochondrial disease in the future.
The Australian Patient Care Standards in practiceView Video
At the 2022 AussieMit Community Summit, Prof Carolyn Sue AM discussed 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.
Can Mito Affect My Sleep?View Video
At a Mito Information Day, Dr Bhajan Singh spoke about sleep disorders and mito. Sleep disorders are known to cause fatigue, sleepiness, and impairment of memory and quality of life. Sleep disorders can also cause life-threatening health problems. Most sleep disorders can be readily diagnosed and treated.
Premature Ovarian Insufficiency and the Link to MitoView Video
Murdoch Children’s Research Institute Senior Research Officer Elena Tucker’s latest research has discovered new mitochondrial disease genes that can be integrated into existing diagnostic tests to improve diagnostic rate and patient management. Elena has found that premature ovarian insufficiency (POI) is a significant symptom of female patients with mito and that it may act as an early diagnostic clue to mitochondrial disorders.
An Introduction to Carers SAView Video
Carers SA are the voice for carers across SA and provides support to the 250,000 carers across South Australia to achieve health, wellbeing, resilience and financial security. John will introduce carers SA and talk about the services they offer and how they can help carers within the mito community.
Clinical Trials and MitoView Video
Clinical trials are a core element for any research that has the chance to go on to help people with mito and often people in the mito community are asked whether they would like to participate in trials, but what is a clinical trial? In this presentation Drago Bratkovic will introduce the clinical trial fundamentals; the how’s, the why’s and the what’s, and why it is that lab research takes so long to make it to the general public.