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

  • Neurogenetics
  • Multiple sclerosis
  • Motor neuron disease
  • Pharmacogenetics

  • Single cell genomics
  • Next generation sequencing
  • Genotyping

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 genes associated with disease. These large studies have been conducted in collaboration with other scientists across the world who have formed 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 a proportion of the 200+ genes we known are involved in MS susceptibility.

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 team

Research team head

Team members

Research fellows

  • Dr Allan Motyer

Research and technical staff

  • Stacey Scott Jackson

Selected publications

  • Baranzini SE, Harroud A and Sawcer S (2022), ‘Genetic analysis of multiple sclerosis severity identifies a novel locus and implicates CNS resilience as a major determinant of outcome’, Research Square (Research Square), doi:10.21203/
  • ‌Motyer A, Jackson S, Yang B, Harliwong I, Tian W, Shiu W, Shao Y, Wang B, McLean C, Barnett M, Kilpatrick TJ, Leslie SJ and Rubio JP (2022), ‘The mutational landscape of single neurons and oligodendrocytes reveals evidence of inflammation-associated DNA damage in multiple sclerosis’, doi:10.1101/2022.04.30.490132
  • Field JH, Fox A, Jordan ML, Baxter AG, Spelman T, Gresle M, Butzkueven H, Kilpatrick TJ and Rubio JA (2017), ‘Interleukin-2 receptor-α proximal promoter hypomethylation is associated with multiple sclerosis’, Genes and Immunity, 18(2):59–66, doi:10.1038/gene.2016.50

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