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Feb 2017
Trish Foundation contributes to first-ever discovery
Jun 2017
Researchers funded by the Trish Foundation making great progress
Dec 2017
Announcement by NHMRC
Jan 2018
2018 Round of Funding Four new Projects announced
Jun 2018
Exciting regrowth of nerve fibres
Jun 2018
Dr Merson secures $1 million from NHMRC
Jun 2018
Findings submitted for publication
Jan 2019
New Research Projects commencing 2019 announced

Great progress in genetic project
attracts further funding  

Professor Trevor Kilpatrick and his team have been funded for two years, supported by the Trish Foundation, to investigate the role of a particular gene in MS vulnerability.

Professor Kilpatrick, from the Florey Institute of Neuroscience and Mental Health in Victoria, has been investigating the role of the MERTK gene in a person’s risk of developing MS.

The team have previously identified a rare variant in this gene that is strongly linked to MS susceptibility, but specialised analysis has shown that this change itself is unlikely to be causing the increased risk of MS. Therefore this project will use a range of techniques to find the causes underlying this change within the MERTK gene. This project is important not only for understanding more about the specific role of the MERTK gene, but this project also provides a template for the way all the MS susceptibility genes will need investigating, in order to accurately map the genetic factors that determine a person’s risk of MS.  

Professor Kilpatrick and colleagues have made great progress in their analysis so far and have mapped sequencing data from a subset of 65 people with MS. So far, they have been able to identify 73 changes within the MERTK gene that meet the criteria for undertaking further analysis for association with MS susceptibility.  

The team is now expanding the scope, to test a larger group of people (over 3000) and families with MS and analysis is ongoing. They have identified that some of the individuals with MS harbour changes within the MERTK gene that have not previously been described. Some of these changes appear to be linked with risk of developing MS in some families with MS. Professor Kilpatrick and colleagues are currently conducting further analysis to determine the extent of this association in the wider population of individuals with MS.

This work represents the first stage of mapping for the role of the MERTK gene. This work has laid the foundations for ongoing work to determine how the genetic changes actually change the characteristics of immune cells and increase susceptibility to MS. This functional work is the topic of a highly competitive grant from national MS Society of the USA that was recently awarded to Professor Kilpatrick and his team. Working with a group of international collaborators, Professor Kilpatrick will look at whether abnormal MERTK has an effect on immune cells and their response to inflammation.

Once the specific genetic changes truly linked with MS risk are identified, this will direct future work on the potential of MERTK as a target for developing new options to treat MS. Further, understanding whether MS risk is inherited through the MERTK gene will help to determine whether undertaking MERTK genetic testing for family members of MS patients is practical.

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