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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.Â
Dr Nicholas Blackburn will study families where multiple members have MS. They 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.Â
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.Â
In addition, Dr Blackburn will look for rare genetic changes in thousands of unrelated people with MS. In these people, they will study the same genes found in the families, to see if other people with MS have the same or similar changes. They 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.Â
To date, Dr Blackburn has recruited a total of 14 families who have multiple members with MS and has analysed the DNA from seven families to look for changes in genes that may explain why family members develop MS.Â
So far, Dr Blackburn and his team have studied laboratory-based models of the gene changes found in two families. They found that some of the changes could be affecting what the gene does and that the changes may be involved in the development of MS in the family. However, the team does not think the gene changes alone are responsible for causing MS in these families.Â
Cell models made directly from cells donated by family members with MS showed that people with MS use their genes differently to people who do not have MS.Â
Dr Blackburn and his team looked at rare gene changes in thousands of unrelated people with MS and found a small number of people who have been diagnosed with MS have changes in genes that may cause diseases that look like MS. This shows that some people who have been diagnosed with MS may have another genetic disease that explains some, or all, of their MS symptoms.Â
Updated 31 March 2024Â
Updated: 22 February, 2023
Laboratory research that investigates scientific theories behind the possible causes, disease progression, ways to diagnose and better treat MS.
Research that builds on fundamental scientific research to develop new therapies, medical procedures or diagnostics and advances it closer to the clinic.
Clinical research is the culmination of fundamental and translational research turning those research discoveries into treatments and interventions for people with MS.
$225,000
3 years – starting 2023
