Neurogenetics Group
Our group aims to identify and characterise the role of genes in human brain diseases, such as multiple sclerosis and motor neurone disease. We want to improve understanding of the underlying mechanisms that may one day translate into new medicines.
Research interests
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About our research
Multiple sclerosis (MS) is our main area of research focus, with current work focusing on determining mechanisms underlying disease development and its progression through genetic research. There are two different approaches we use to achieve our goals: large population-based genetic studies, and single cell genomic sequencing.
Population-based genetic studies have taken the form of genome-wide associations scans (GWAS) involving DNA samples from thousands of people living with MS and controls to search for genes associated with disease. These large studies have been conducted in collaboration with other scientists across the world as part of consortia including The Australia and New Zealand MS Genetic Consortium (ANZgene) and The International MS Genetics Consortium (IMSGC). Through collaborative studies involving ANZgene and IMSGC conducted over the last 15 years, we have contributed to the identification of 200+ genes involved in MS risk and progression.
Our single cell research program focusses on MS and motor neurone disease (MND), and seeks to understanding disease processes by exploring DNA sequence for somatic mutations in single cells, such as neurons, from post-mortem brain tissue that has been donated to brain banks for research.
Research projects
Determining the contribution of rare genetic variation to MS risk, progression and phenocopy using exome sequencing
Investigating the role of somatic mutation in MS progression and MND
Research team
Research team head
Associate Professor Justin Rubio
Group Head
Team member
Stacey Scott Jackson
Lab Manager
Selected publications
- International Multiple Sclerosis Genetics Consortium; MultipleMS Consortium, ‘Locus for severity implicates CNS resilience in progression of multiple sclerosis’, Nature, 2023 Jul;619(7969):323-331, doi:10.1038/s41586-023-06250-x
- Wong AK, Klepstad P, Somogyi AA, Vogrin S, Le B, Philip J, Rubio JP (2023), ‘Effect of gene variants on opioid dose, pain and adverse effect outcomes in advanced cancer: an explorative study’, Pharmacogenomics, doi: 10.2217/pgs-2023-0207
- Sun et al (2024), ‘A deep catalogue of protein-coding variation in 983,578 individuals’, Nature, Jul;631(8021):583-592, doi: 10.1038/s41586-024-08571-x
- Motyer A, Jackson S, Yang B, Harliwong I, Tian W, Shiu W, Shao Y, Wang B, McLean C, Barnett M, Kilpatrick TJ, Leslie S, Rubio JP (2025), ‘Neuronal somatic mutations are increased in multiple sclerosis lesions’, Nature Neuroscience, doi:10.1038/s41593-025-01895-5
Contact us
For more information about our group’s research you can contact us by submitting this form.