Researchers in the Genomics and Genetics theme investigate how changes in our DNA—and how those changes interact with non-genetic factors like lifestyle and environment—contribute to the risk, onset, and progression of motor neuron disease (MND). This includes the study of both rare mutations and common genetic variations, as well as large-scale systems genomics approaches that link DNA with downstream effects on RNA, proteins, and metabolism. Our goal is to understand the biological mechanisms underlying MND and identify new targets for early detection, intervention, and personalised treatment.
Using powerful tools like whole genome sequencing, array-based sequencing, transcriptomics, proteomics, and advanced statistical modelling, we aim to analyse data from large human global cohorts. In Australia, genetic, clinical and biological data availability is facilitated by the Strategic ALS Australia Systems Genomics Consortium. Brisbane is a clinical site for collection to ensure those affected by MND can contribute. Combining genetic insights with environmental and clinical data, our team, together with National and International researchers, are building a clearer picture of how different risk factors converge to cause disease.
By pursuing a comprehensive genomics approach with large human data, we aim to:
- Identify genetic risk factors: Discover rare and common genetic variants that increase the likelihood of developing MND and explain variation in disease like onset and progression
- Understand gene-environment interactions: Explore how lifestyle, environmental exposures, and ageing interact with genetic background to influence disease risk and progression.
- Discover new therapeutic targets: Use genomics to pinpoint disease mechanisms (e.g. altered immune responses, RNA processing defects, or mitochondrial dysfunction) that could be targeted by future drugs.
- Develop predictive tools: Combine genetic risk scores and biomarkers to improve early diagnosis and stratify patients for clinical trials or treatment approaches.
- Uncover molecular subtypes: Analyse genomic and transcriptomic profiles to define different biological forms of MND, supporting the development of tailored therapies.
Why our research matters
Genetic discoveries at the UQ Centre for MND Research are helping to transform our understanding of MND by:
- Revealing its causes: Genomics allows us to uncover what initiates disease in different individuals, offering vital clues to its biological roots.
- Improving diagnosis and risk prediction: In future, genetic screening could support earlier and more accurate diagnosis, particularly for those with a family history or unclear symptoms.
- Enabling precision medicine: By identifying genetic subtypes and the mechanisms they disrupt, we can design more targeted, personalised treatments.
- Accelerating drug development: Genetic data can point to new drug targets and help prioritise patients for clinical trials based on their individual risk profiles. This preclinical ‘target’ increases chance of success in the clinical trial pipeline
Together, our genomics and genetics team will driving a deeper, more integrated understanding of MND—essential for developing better strategies to prevent, diagnose, and treat this devastating disease.
Our team
- Dr Fleur Garton – following up genetic risk factors, polygenic scores, integrating blood-based omics to translate findings for MND detection and treatment in the clinic
- Dr Jean Giacomotto – developing laboratory models to understand how genes mutations might underpin MND
- Dr Allan McRae – expert in statistical genomics and the analyses of large-scale genetic/’omic data
- Associate Professor Sean Millard – developing laboratory models to understand how genes mutations might underpin MND
- Dr Quan Nguyen – an expert in using big data and machine learning to find ways to improve disease diagnosis or cell-type specific treatments
- Dr Margreet Ridder – an electrophysiologist who is focusing on developing gene therapies for MND
- Dr Daniel Schweitzer – a neurologist with an interest in understanding how gene variants contribute to MND
- Professor Naomi Wray – leader in statistical genetics, guiding direction/analyses of large-scale genetic data for MND discovery