Brain and Mitochondrial research

Improving diagnosis and outcomes for children and families with rare inherited mitochondrial and neurogenetic disorders.

Our research goal

We aim to improve diagnosis and outcomes for children and families affected by rare inherited disorders, particularly those affecting mitochondria (our cellular power plants), and other critical cellular processes impacting the healthy development of brain and nerves.

Our research focus

We have been the major national centre for laboratory investigation of mitochondrial disease for over 30 years and have longstanding research interests in other inherited metabolic disorders and neurogenetic conditions.

Genomics and functional genomics for diagnosis

DNA sequencing technologies have transformed the diagnosis of rare diseases. However, around half of all patients suspected of having mitochondrial or other rare inherited conditions remain undiagnosed after genomic investigations.

To address this, we use multi-omic approaches, including:

Transcriptomics
Proteomics
Targeted functional analyses

These methods help us solve complex diagnostic cases that standard genomic sequencing cannot.

Preclinical stem cell models

To model mitochondrial diseases and other neurogenetic conditions in vitro (in a dish), we use pluripotent stem cell technology. This allows us to reprogram patient skin cells into specific cell types such as:

Cardiomyocytes (heart cells)
Brain cells (including neurons and glial cells)
Organoids

These patient-specific models enable us to study disease mechanisms and test treatment strategies in the most relevant cell types.

Implementation of research into the Australian health care system

Translating research into clinical practice can take years. We focus on developing an evidence base to facilitate this, playing lead roles in local, national and international consortia, such as:

Our work focuses on:

Expanding access to genomic diagnostic services
Supporting publicly accessible reproductive options to prevent inherited disease
Developing health economic evidence for new services
Facilitating recruitment of patients into clinical trials

We also work closely with consumer organisations o enhance the diagnosis and management of children and families living with these disorders. these include

Watch David Thorburn interview by Indira Naidoo on ABC Nightlife

Professor David Thorburn discusses the diagnosis of mitochondrial disease and proposed laws around mitochondrial donation. Interview by Indira Naidoo, ABC Nightlife.