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Genetic variation in multiple sclerosis

   Menzies Institute for Medical Research

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  Dr Nicholas Blackburn  No more applications being accepted  Competition Funded PhD Project (Students Worldwide)

About the Project

Identifying and understanding the role of rare genetic variation in the development of multiple sclerosis

About the research project

Multiple sclerosis (MS) is a life destroying neurological condition that begins in early adulthood resulting in progressive neurological degeneration, disability, and eventual death. Family history is a significant risk factor for MS and there is an established genetic component to this disease. Case-control genome-wide association studies have identified over 200 regions in the genome that are associated with the development of MS but these associations have led to very few confirmed MS risk genes.

Our research focuses on the analysis of individual families where multiple closely related individuals have been diagnosed with MS. We work under the hypothesis that the genetic analysis of related individuals with MS will identify rare genetic variation that contributes to disease development. To achieve this, we conduct genome sequencing of relatives with and without MS to find variants that are present in family members with MS. Our focus is on rare genetic variation that is likely to have a large biological impact on gene function. Our analyses to date in four such families have identified tens of candidate variants in each family.

With family recruitment ongoing there is significant opportunity in this study for MS gene discovery. This project will specifically focus on the computational genomic analysis of genome sequence data to first identify candidate genetic variants. These variants and the genes that they effect will then be studied to further understand their potential involvement MS development. Internal and external datasets including large case/control exome sequencing datasets, gene expression datasets (both bulk RNA-seq and single cell RNA-seq) will be analysed to prioritise candidate variants for further functional follow-up in other projects.

Applicants to this project will have a strong interest in computational analyses and bioinformatics. There is potential for this project to have laboratory-based components, but it is fundamentally an analytical project.



Applicants will be considered for a Research Training Program (RTP) scholarship or Tasmania Graduate Research Scholarship (TGRS) which, if successful, provides:

  • a living allowance stipend of $28,597 per annum (2021 rate, indexed annually) for 3.5 years
  • a relocation allowance of up to $2,000
  • a tuition fees offset covering the cost of tuition fees for up to four years (domestic applicants only)

If successful, international applicants will receive a University of Tasmania Fees Offset for up to four years.

As part of the application process you may indicate if you do not wish to be considered for scholarship funding.


The project is open to domestic (Australian and New Zealand) and international applicants.

Applicants should review the Higher Degree by Research minimum entry requirements.

Selection Criteria

The project is competitively assessed and awarded.  Selection is based on academic merit and suitability to the project as determined by the College.

Application process

After checking and ensuring that you meet the eligibility and selection criteria contact the project supervisor.

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