We know that a person’s genetics can influence their risk of developing multiple sclerosis (MS). However, we do not know exactly which genes, nor how they cause MS to begin or worsen. This research aims to identify and study genes potentially associated with MS.
Dr Nicholas Blackburn will study families where multiple members have MS. He will look for changes in genes that may lead to MS by comparing the genes of family members with MS to those who do not have MS. The changes may be rare in the general population but can be repeated in a single family because of shared genetics. After finding these changes, Dr Blackburn will identify how they contribute to MS development.
Dr Blackburn will study the changes that occur in MS families using laboratory-based cell models. This will help determine how these rare changes make the cells of people with MS act differently. These cell models will be made directly from cells donated by the family members with MS and, for comparison, their unaffected relatives, who do not have the genetic changes.
In addition, Dr Blackburn will look for rare genetic changes in thousands of unrelated people with MS. In these people, he will study the same genes found in the families, to see if other people with MS have the same or similar changes. He will also observe changes that are known to cause diseases that are like MS, to identify if some of the same genes might cause symptoms in people diagnosed with MS.
Dr Blackburn’s research focused on rare changes in DNA that may have a larger effect on the risk of developing MS than more common genetic differences. By studying families where several people have MS, he compared the DNA of those with and without the disease to identify rare genetic changes that may help explain why MS can run in some families.
Across the fellowship, he completed detailed genetic analysis of 20 families affected by MS. This work identified several rare genetic changes and highlighted biological pathways that may play an important role in the disease. Importantly, the research showed that similar genes and pathways are affected across different families, strengthening confidence that these are relevant to MS.
This work also contributed to new insights into how these genetic changes may affect the body. As part of a broader research effort, the team identified changes in specialised cells that help maintain the blood–brain barrier, which protects the brain and spinal cord. They also showed that certain rare genetic changes can directly affect movement and inflammation in laboratory models. Together, these findings provide important clues about how MS develops in some people.
A key impact of this research is improved understanding of diagnosis. By analysing ANZgene data from more than 4,300 people with MS, Dr Blackburn showed that it is very rare for someone diagnosed with MS to instead have a different genetic condition with similar symptoms. This provides reassurance for people living with MS that their diagnosis is accurate, while also highlighting a small group of individuals who may benefit from more detailed genetic testing.
While this research is at an early stage and does not yet directly change clinical care, it lays important foundations for future progress. It has identified promising genes and biological pathways that could become targets for future research, helped build valuable laboratory models, and created a unique dataset of families affected by MS. These advances position the field to better understand the causes of MS and, over time, support the development of more precise approaches to diagnosis and treatment.
Updated 31 March 2026Â
$225,000
2023
3 years
Past project
