Studying families that have multiple relatives with MS to learn how MS develops

Dr Nicholas Blackburn

Menzies Institute for Medical Research, University of Tasmania, TAS

March 2025

specialisation: Genetics

focus area: Causes and Prevention

funding type: Project

project type: Investigator Led Research

Summary

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.

lead investigator

co-investigator

total funding

$249,010

start year

2025

duration

3 years

STATUS

Current project

Stages of the research process

Fundamental laboratory Research

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

Translational Research

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

3+ years

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Studying families that have multiple relatives with MS to learn how MS develops