A person’s genetics can influence their risk of developing MS. However, few MS genes have been identified, and it is not well understood how genes drive MS development.
Previous research by Dr Nicholas Blackburn and his team into the genetics of MS families (families that have 3 or more close relatives who have MS) has shown that there are genetic changes in MS families that may affect a person’s genes in a way that contributes to MS. These changes are rare in the general population but can occur multiple times in a single family because of shared genetics. These changes might be why some families have many people with MS.
The focus of this current project is to increase the number of MS families studied to establish if similar genetic changes to those already identified occur across other MS families. Dr Blackburn and his team will then use the genetic changes identified in MS families to test whether the same genes are linked to MS in data from thousands of people with MS. Together, this will provide clues as to why MS develops so strongly in some families and lead us to better understand why MS develops overall, including in people who do not have a family history.
Dr Blackburn and his team have made strong early progress in expanding and analysing the MS Family Study to better understand how genetic changes contribute to MS.
Since the start of the project, the team has expanded the study to include multiple research sites, with recruitment now taking place in both Hobart and Newcastle. This required new ethics approvals and updated consent processes, including a framework to responsibly return clinically relevant genetic findings to participants where appropriate. Recruitment has continued in Hobart, with additional participants from families with multiple members living with MS enrolled during the reporting period.
The team has continued analysing genetic data from families where several relatives have MS. This work has identified many rare genetic changes that are shared among affected family members, with some genes found repeatedly across different families. These recurring findings suggest that certain genes and biological pathways may play an important role in the development of MS.
To support this work, the researchers have also developed and refined methods to detect different types of genetic changes, including larger variations that affect broader sections of DNA. By testing multiple analytical tools and comparing their performance, they have identified the most reliable approaches for analysing genetic data in these families.
In parallel, the team has begun testing whether these genetic findings are also relevant in the wider MS population. Early analyses suggest that at least one gene may be associated with increased risk of MS, providing an important link between findings in families and the broader community.
The project is now progressing into the next phase, focusing on recruiting additional families, strengthening genetic analyses, and further testing these findings in larger datasets.
This work is helping build a clearer understanding of how rare genetic changes contribute to MS, with the long‑term goal of identifying new biological pathways that could inform future treatments.
Updated 31 March 2026
$249,010
2025
3 years
Current project
