Do genetic changes in the brain have a role to play in progressive MS? - MS Research Australia

Do genetic changes in the brain have a role to play in progressive MS?

Associate Professor Justin Rubio

University of Melbourne, VIC

| Better treatments | Genetics | Project | 2018 | Investigator Led Research |


MS is a very varied diseased. Currently, we cannot predict the course an individual person’s disease with take. The majority of people are originally diagnosed with relapsing-remitting MS, of those over 90% will eventually go on to develop secondary progressive MS, whereas others don’t. However, it is unclear what factors are responsible for the transition to progressive disease. While large genetic studies have identified over 200 genes involved in the risk of developing relapsing remitting MS, similar studies in progressive MS have not found risk genes that leads to the transition to progressive forms of MS.

Associate Professor Rubio is examining the DNA and genes of individual brain cells of people with MS. This is because not all cells in our bodies are the same, even though they start off containing the same DNA, individual cells can develop genetic mutations as we age. These mutations in individual cells may influence the way those cells act and function. Associate Professor Rubio hypotheses that mutations in individual brain cells in people with MS might be responsible for the development of progressive MS.

In this project, Associate Professor Rubio and his team will isolate single cells from the brains of people who had MS. Using a process called Next Generation Sequencing, his team will then study the DNA of these cells, he is hoping to determine which genes are involved in progressive MS. This could pave the way for the development of new therapies for progressive MS.

Updated: 11 January 2018

Updated: 05 January, 2018

Stages of the research process

Fundamental laboratory

Laboratory research that investigates scientific theories behind the possible causes, disease progression, ways to diagnose and better treat MS.

Lab to clinic timeline: 10+ years

Research that builds on fundamental scientific research to develop new therapies, medical procedures or diagnostics and advances it closer to the clinic.

Lab to clinic timeline: 5+ years
Clinical Studies
and Clinical Trials

Clinical research is the culmination of fundamental and translational research turning those research discoveries into treatments and interventions for people with MS.

Lab to clinic timeline: 1-5 years



  • Associate Professor Stephen Leslie
  • Professor Michael Barnett

Grant Awarded

  • Project Grant

Total Funding

  • $229,000


  • 2 years over 2018 - 2019

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