Investigation of genetic factors that contribute to concussion and its outcomes

Overview

The health outcomes from traumatic brain injuries (TBIs) and concussion depend on the nature of the injury, but response also varies greatly between individuals, suggesting that genetic factors may play a role. In particular, due to effects of head trauma on balances of ions, neurotransmitters and energy use in the brain, there is suggestion that variation in the genes that encode proteins involved in these pathways, e.g. ion channels, may affect the risk of, as well as response to a concussion.

This project will investigate genetic variants in individuals who have suffered a concussion using DNA sequencing technologies to identify genetic variants, combined with bioinformatics approaches to prioritise variants of interest, and molecular techniques to functionally test variant effects to validate findings.

Approaches, skills and techniques

Techniques to be used in the project may include:

• DNA sequencing techniques including Next Generation and Sanger sequencing
• bioinformatics analysis to prioritise candidate gene variants
• testing of variant effects using molecular biology approaches and appropriate assays.

Identifying genes and genetic variants involved in response to head injury will enhance understanding of the biological pathways that play a role in mediating the outcomes from TBI and concussion in order to facilitate better patient management.

Keywords

• Concussion
• Post-concussion syndrome
• Migraine
• Genetics
• Whole exome sequencing
• Ion channels
• Rare variants
• Mitochondrial sequencing
• Bioinformatics analysis
• Functional testing

Contact

Contact the supervisor for more information.