Identifying epigenetic factors associated with MS

Professor Rodney Scott

The University of Newcastle, NSW

| Causes and Prevention | Genetics | Project | 2019 | Investigator Led Research |


Epigenetics is a fascinating and relatively new area of research in MS, and in cell biology in general. We all have our genes “encoded” within our DNA sequence. Every cell in the body contains copies of the whole human genome, but not all of the genetic code gets used in every cell.

A nerve cell is different from an immune cell, or from a heart cell…and much of that is determined by which genes are switched “on” or “off” to make the specific proteins required to make that cell unique in its function. Nerve cells need proteins to create electrical conductivity, immune cells need proteins to allow them migrate around the body and survey the environment, heart cells need proteins to be able to contract. These functions are determined by which proteins the cell makes.

Epigenetics is the study of which genes get turned “on” or “off”; and therefore which proteins get produced in the cell, to serve specific functions. Genes can be turned on or off to make different cell types. In addition, they can be turned on or off so that cells can respond appropriately to various challenges or insults.  It is also possible they are “preset” to some extent from childhood, or even by genetics.

This is where epigenetics becomes relevant to MS. The extent to which people’s genes are turned “on” or “off”, and which genes are turned on or off, can potentially influence how their MS progresses.

Progress to Date

Professor Scott’s team is examining how far individual genes are being switched on and off in the blood (the circulating immune system) in people with MS with severe disability compared to mild disease.

Incredibly, latest technology allows researchers to measure this for every single gene in the entire human genome in one experiment, and at a feasible cost. This provides researchers with a wealth of information at one pass.

The aim of this work is to use this powerful tool to find new markers of disease severity.

Thus far, the group has achieved a major milestone by collecting blood samples from a very large number of people with MS for the analysis. DNA has been extracted from two groups of 150 people with relapsing-remitting MS: one group with mild disease, and one with severe disease. In addition, genetic variation (variation in the DNA sequence) has been determined in these people.

Professor Scott’s team will analyse the epigenetics in the blood, to determine the extent to which individual genes in the blood are switched on or off. The ultimate aim is to discover genes involved in severe disability in MS. The hope is that this research will address a “holy grail” of worldwide MS research efforts: to contribute to better treatment of disability progression in MS.

Updated: 18 May 2021

Updated: 05 January, 2019

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


Grant Awarded

  • Project Grant

Total Funding

  • $211,000


  • 3 years

Read More
Dr Simon Murray

Newsletter subscription

  • Enter your details

Identifying epigenetic factors associated with MS