C9orf72

The C9ORF72 gene provides instructions for making a protein that is abundant in specialised neurons in the brain and spinal cord that control movement (motor neurons). The C9ORF72 genetic mutation was discovered in 2011 and has since been found to account for about 40% of familial MND cases. It is also frontotemporal dementia (FTD) in around 15% of people with C9ORF72 MND.

I work as a Senior Research Officer within the MND Association to communicate the latest updates in MND research across our platforms. Additionally, I manage the digital platforms and communications for the International Symposium on ALS/MND. I graduated with a master's degree in Neuroscience from Cardiff University in 2023. I have previously supported the awareness of Fragile X syndrome within the UK.