BIOM02 - Identification and investigation of novel genes and genetic variants involved in migraine and related neurogenetic disorders.

Overview

Migraine is a debilitating neurogenetic disorder which can be caused by genes related to ion channel function. The Genomics Research Centre performs diagnostic testing for migraine-related disorders in Australia and  have developed a NATA accredited Next Generation Sequencing (NGS) approach for molecular testing.  However, as only ~20% of patients referred to the laboratory for genetic testing have pathogenic mutations in known genes for the disorders, we have undertaken whole exome sequencing (WES) to identify novel genes and variants that may be involved. In this project some of these potentially novel candidates prioritised from the NGS sequencing data using bioinformatics approaches will be investigated using molecular techniques to validate findings, and functionally test variant effects and further understand the pathology.

Research engagement

Students will be undertaking lab-based work.

Research activities

The student will be working with postdocs and HDR students in the Genomics Research Centre

Techniques to be used in the project may include:
* Genotyping and DNA sequencing techniques such as Sanger sequencing
* Bioinformatics analysis to prioritise candidate gene variants
* Testing of variant effects using molecular biology approaches and appropriate cellular assays

Outcomes

The aim of this project will be to validate some of the variants and genes of interest that we have identified in WES data and further investigate their involvement in migraine disorders. Results from this project will be used to design and develop more comprehensive targeted NGS panels to diagnose familial and hemiplegic migraine to improve molecular diagnostic testing for these neurogenetic disorders.

Skills and experience

Some lab-based molecular biology skills and an interest in human genetics would be advantageous.

Start date

2 November, 2026

End date

19 February, 2027

Location

Genomics Research Centre laboratories in KG-Q, Kelvin Grove

Additional information

Students will be supervised in the lab by Dr Sutherland and have the opportunity to take part in the Genomics Research Centre lab meetings with DProf Griffiths and interact with other researchers and students to learn about the various projects and methods being used in the lab.

Keywords

• neurological disorders
• migraine
• genes
• mutations
• sequencing

Contact

Heidi Sutherland

07 31380971

heidi.sutherland@qut.edu.au