Investigating if a combination of multiple gene mutations can contribute to the development of MND.
PhD Student: Sarah Gornall
Principal Investigator: Prof Majid Hafezparast
Lead Institution: University of Sussex
MND Association Funding: £108,930*
Funding dates: October 2023 - September 2026
*Supported by The Broad Appeal
About the project
Previous research has suggested that in the majority of cases of MND, where no single gene is responsible, the disease may be a collective result of several gene mutations. However, there is little evidence to explain how variations in these genes, when they are inherited together, may contribute to the development of MND. It has been found that variations in two genes which produce proteins called dynein and TBK1, may act together to contribute to MND. These proteins have crucial roles in clearing toxic abnormal proteins in neurons. Variations in these genes are thought to be involved in neuron damage and death. This project will use cell models of MND to analyse the impact of mutations in these genes on the cell’s clearance of abnormal proteins and stress response. It also aims to explore ways that these effects may be reversed and may help to identify new potential therapies for MND.
What could this mean for MND research?
This project will look to understand if multiple genetic mutations lead to mechanisms within the body to go wrong, and then look at ways to see if the damage can be prevented or corrected. It will also increase our understanding of how our genetics are involved in MND.
Project code: 913-792
