Faculty/School

Faculty of Health

School of Biomedical Sciences

Topic status

We're looking for students to study this topic.

Research centre

Centre for Genomics and Personalised Health

Supervisors

Distinguished Professor Lyn Griffiths
Position
Centre Director, Centre for Genomics & Personalised Health
Division / Faculty
Faculty of Health
Dr Neven Maksemous
Position
Research Fellow
Division / Faculty
Academic Division
Dr Heidi Sutherland
Position
Research Fellow
Division / Faculty
Faculty of Health

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 we have recently developed a NATA accredited Next Generation Sequencing (NGS) approach for molecular testing.  However, as only ~20% of patients referred to our laboratory for genetic testing have pathogenic mutations in the known genes, we have undertaken whole exome sequencing (WES) to identify novel genes and variants involved in the disorder. This project involves investigation of genetic variants identified from NGS sequencing data using bioinformatics approaches to prioritise variants of interest, molecular techniques to functionally test variant effects and validate findings, as well as cell models to further understand the pathology.

Research engagement

Student will be undertaking lab-based work.

Research activities

The student will be working with postdocs Dr Heidi Sutherland and Dr Neven Maksemous in the laboratory on a project overseen by DProf Lyn Griffiths.

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 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. 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

Student would preferably have some lab skills in molecular biology.

Start date

1 December, 2024

End date

21 February, 2025

Location

Genomics Research Centre, Q block, Kelvin Grove, QUT

Additional information

Laboratory reagents for the project will be available, student will be supervised by research fellows and postgraduate students in the laboratory.

Keywords

Contact

heidi.sutherland@qut.edu.au