Genomics of multiple sclerosis

About the research project

Multiple sclerosis (MS) is a progressive autoimmune and neurodegenerative disease with no known cure. Disease onset most commonly occurs in young adults, during an important life stage when people are growing their careers and families. We know that the precise causes of MS varies from person to person but includes environmental, lifestyle and genetic risk factors.

This project focuses on the genetic risk of MS. Genetic factors have been estimated to account for around half the risk of developing MS, but research to date has not completed our understanding of the spectrum MS genetics. 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. MS is not a single gene or Mendelian disease, but we think that in these families multiple rare genetic changes, possibly in combination with polygenic risk, are contributing to disease onset. Our analyses to date in six 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 understand the biological roles of the identified genes and variants.

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

Primary supervisor

Meet Doctor Nicholas Blackburn

Funding

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 funded by University of Tasmania of $34,315 per annum 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)

A tuition fee offset may be offered to eligible international applicants following competitive assessment 

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

Other funding opportunities and fees

For further information regarding other scholarships on offer, and the various fees for undertaking a research degree, please visit our Scholarships and fees on research degrees page.

Eligibility

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

Ensure your eligibility for the scholarship round by referring to our Key Dates.

Additional eligibility criteria specific to this project/scholarship:

• Applications from the following disciplines will be considered: computational genomics, bioinformatics, computer science, neuroscience, genetics.
• English language scores must be above minimum entry requirements for this project.
• Applicants must be able to undertake the project on-campus.

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.

Additional essential selection criteria specific to this project:

• High level of experience working in Unix computing environment.

Additional desirable selection criteria specific to this project:

• Experience in analysing genome and/or transcriptome sequencing data.
• Experience with long read sequencing technologies

Application process

1. Select your project, and check that you meet the eligibility and selection criteria, including citizenship;
2. Contact Doctor Nicholas Blackburn to discuss your suitability and the project's requirements; and
3. In your application:
   • Copy and paste the title of the project from this advertisement into your application. If you don’t correctly do this your application may be rejected.
   • Submit a signed supervisory support form, a CV including contact details of 2 referees and your project research proposal.
4. Apply prior to 1 October 2026.

Full details of the application process can be found under the ' How to apply ' section of the Research Degrees website.

Following the closing date applications will be assessed within the College. Applicants should expect to receive notification of the outcome by email by the advertised outcome date.

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