Are genetic changes in the brain involved in the progression of MS?

Associate Professor Justin Rubio

The Florey Institute of Neuroscience and Mental Health, VIC

| Causes and Prevention | Neurobiology | Incubator | 2017 | Investigator Led Research |


There are many unanswered questions about progressive MS. A large proportion of people with relapsing remitting MS will ultimately transition to secondary progressive MS in their lifetime, however some people never get to the progressive phase. It remains unclear what factors predict whether someone will develop secondary progressive MS. While large genetic studies have identified over 100 genes involved in the risk of developing relapsing remitting MS, similar studies in progressive MS have not found any risk genes for progressive forms of MS.

One reason for this, may be that genetic changes specifically found only in the brain, rather than in other tissues of the body, are driving progression in MS. These types of genetic changes, known as somatic mutations, are often missed since genetic research is routinely conducted on blood samples.

Associate Professor Rubio will examine whether somatic mutations are present in the nerve cells of people with progressive MS. This project will use cutting edge scientific techniques called whole genome sequencing to look at the entire genetic sequence of single nerve cells from post-mortem brain tissue and compare the differences to brain tissue from people who do not have MS. This pilot study will validate the scientific methods and demonstrate the feasibility of a wider study of somatic mutations in a larger group of people with progressive MS. Knowing what genes might be altered in the brains of people with progressive forms of MS, and understanding the functions of those genes, may allow us to identify new ways to protect nerve cells from the damage caused by MS.

Progress to Date

The incubator grant aimed to develop a technique that would allow Associate Professor Justin Rubio and his team to examine genetic changes that occur directly in the brain. The technique that they used looks at individual cells from the brain one at a time and requires completely different sample processing and analysis techniques in comparison to normal samples taken from blood.

Over 2017, the team were able to isolate and process the samples and use a cutting edge genetic technique to map all genetic changes across the genome in the brain cells. They were able to get the technique working and gained data from a range of brain samples. In addition to the genetic changes identified in the brain cells, they were also able to profile genetic changes in support cells of the brain, oligodendrocytes. This work underpinned the successful project grant received by this team in 2018. The new funding will continue this work over the next two years.

Updated: 20 April 2018

Updated: 19 January, 2017



Grant Awarded

  • Incubator Grant

Total Funding

  • $18,000


  • 1 year over 2017

Read More
Learmonth, Yvonne

Newsletter subscription

  • Enter your details

Are genetic changes in the brain involved in the progression of MS?