Development of an SRSF1-targeted gene therapy for C9orf72 MND/FTD

To further develop a novel gene therapy for C9orf72 MND/FTD

DrHautbergueTeam 60 Guillaume Centrifuge

Lead Investigator: Dr Guillaume Hautbergue

Lead Institution: University of Sheffield

MND Association Funding: £50,000*

Funding dates: August 2021 - July 2024

*Through the LifeArc Translational Research Fund

About the project

Mutations in the C9orf72 gene lead to repeated sections within the RNA (instructions the cell uses to make the protein) and these faulty pieces of RNA are transported out of the nucleus of the cell and into the cytoplasm. A protein called SRSF1 is involved in the transport of the RNA to the cytoplasm, where toxic proteins called dipeptide repeat proteins (DPR’s) are made from the faulty RNA. Previous research has shown that reducing the amount of SRSF1 protein in the cells inhibits the movement of the repeated sections of RNA from the nucleus and prevents the DPR’s from being made.

This project will further develop a novel gene-therapy which has already shown promise in animal models of MND and Frontotemporal dementia (FTD). This study aims to gather more data on the new gene therapy, including the best route of delivery of the therapy, the dose needed to lead to maximum beneficial effects and long-term effects of the therapy in mice. This additional data could be used to apply for a clinical trial of the gene therapy in the future.

What does this mean for people living with MND?

If successful, this project could lead to the gene therapy being tested in a new clinical trial. This could help to provide a new treatment option for those with MND/FTD associated with the C9orf72 gene mutation.

Resources 

Want to find out more about this project? Check out the resources below:

Blogs:

Translational research in MND: Our partnership with LifeArc 

Project code: 878-791