In February 2024, the Trustees met the team at the University of Oxford working on the “Making MND Preventable” research project – ACORN – got a tour of the lab, met the incredible team working on the project and even tried their hands working on the bench with pipettes.
The ACORN study will identify and characterise people with ALS (MND) or FTD and asymptomatic family members who carry the C9orf72 gene expansion, and create a national register of this cohort, facilitating further research and study participation.
People who have a specific genetic change, known as the C9orf72 hexanucleotide repeat expansion, are at higher risk of developing amyotrophic lateral sclerosis (ALS, also known as motor neuron disease, MND) or a rare form of dementia called frontotemporal dementia (FTD).
The ACORN study aims to understand how the C9orf72 gene expansion causes ALS and FTD in some but not all carriers, and the timing if so. ACORN involves people from all over the UK who are known to have ALS or FTD caused by the C9orf72 genetic change. It also involves their close relatives (e.g. siblings or adult children) who may or may not be at higher risk of future ALS or FTD. With their permission, ACORN will develop a register of people who carry, or who are at risk of carrying the C9orf72 gene expansion, and who are keen to take part in research. These studies will define disease markers and predictors. Importantly this research can be done without relatives needing to know their own genetic status.
ACORN will lay the groundwork for the development of better treatments for those affected by ALS or FTD due to the C9orf72 gene expansion, but also ways to try to prevent disease in unaffected relatives at higher risk in later life.
