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

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

We have been the major national centre for laboratory investigation of mitochondrial disease for three decades and have longstanding research interests in other inherited metabolic disorders and neurogenetic conditions like Rett syndrome.

Key research areas

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 diseases currently remain without a diagnosis after genomic investigations. We employ “multi-omic” approaches to solve these difficult cases including transcriptomics, proteomics and targeted functional analyses.

Preclinical Stem Cell Models

To model mitochondrial diseases and other neurogenetic conditions ‘in a dish’ we use pluripotent stem cell technology to turn patient skin cells into different cell types such as cardiomyocyte (heart cells) and neurons. These patient-specific models enable the study of disease mechanisms and treatment strategies in the most relevant cell types. 

Implementation of Research into the Australian Health Care System

Research discoveries can take years to be introduced into clinical practice. We focus on developing an evidence base to facilitate this, playing lead roles in local, national and international consortia such as RDNow, Australian Genomics, International Precision Child Heath Partnership (IPCHiP) and Leigh Syndrome Roadmap Project. These seek to build capacity for delivery of genomic diagnostic services, ensure publicly accessible reproductive options to prevent inherited disease, develop health economic evidence for introducing new services, and facilitate recruitment of patients into clinical trials. We engage closely with consumer organisations such as the Mito Foundation, to seek legislative change so mitochondrial donation will be available to Australian families.

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.

Lewis' legacy

Liz and Luke share their deeply personal story of their little boy Lewis, who sadly died of mitochondrial heart disease eight days after being born. Lewis' legacy however means MCRI researchers like Alison Compton and Ann Frazier can tell affected families that this awful outcome is extremely unlikely to happen again.

NAD(P)HX dehydratase (NAXD) deficiency

An international team of researchers, led by MCRI, have identified a rare genetic brain disorder that causes severe neurological damage in children after a mild episode of fever or illness.