MITO – mitochondrial disease

Who does it affect?

• Each week one baby is born in Australia with a severe form of mitochondrial disease. This equals about one in every 5,000 births.
• Currently, up to 40 per cent of mitochondrial disease cases go undiagnosed.
• The disease can occur at birth or later in life. Sometimes symptoms can appear suddenly after a stress like a viral illness.
• Sometimes referred to as Mito, mitochondrial disease is often summarised as being able to cause any symptom, in any organ, at any age. 

Our mitochondrial research

Our research aims to diagnose all children with mitochondrial disease to end an often long and painful diagnostic journey. This involves identifying new disease-causing genes and streamlining diagnostic processes.

We are determining how different genes cause the disease and trialling new reproductive options, including mitochondrial donation and potential treatments.

We are researching mitochondrial diseases including:

• Alpers syndrome
• Barth syndrome
• Leigh syndrome
• Lethal infantile mitochondrial disease
• MELAS
• Mitochondrial DNA disorders
• Mitochondrial encephalopathy
• Mitochondrial myopathy
• Crdiomyopathy and cytopathy
• OXPHOS disease
• Respiratory chain disease
• Pyruvate dehydrogenase deficiency
• Sengers syndrome

Our vision

We are working to better understand what causes mitochondrial disease and how it progresses to help couples access reproductive options and treatments. We also aim to make faster and more accurate genetic diagnosis possible for all families.

Where to next?

We’re using cutting-edge multi-omic technologies including long-read DNA sequencing, RNA sequencing and quantitative proteomics to tackle the most difficult to diagnose cases of mitochondrial disease. We aim to accurately obtain a genetic diagnosis for all children and families without the need for a long diagnostic journey.