Causes
The MND Association funds a number of research projects into the causes of MND.
These projects aim to understand the causes of motor neurone degeneration. This is essential to allow the development of treatments. Only by understanding what goes wrong in MND can scientists know how to design and where to target drug treatments. A selection of our newest causes projects are highlighted below:
Download our research we fund information sheet for details of all of the projects we fund.
Studying the function of C9ORF72 in MND
- Prof Chris Miller and Dr Wendy Noble
- King’s College London
- £94,051 (PhD studentship) over three years
- Start date: October 2013
- Our ref: 6291 Oct12
A repeat expansion in a gene called C9ORF72 causes approximately 40% of cases of MND in families with a positive history of the disease and a related condition called fronto-temporal dementia. Learning more about the role of C9ORF72 and how it can cause MND is important for devising new treatments that can target this faulty gene.
Using advanced microscopy, this research group will find the location of C9ORF72 in cells and see whether its loss induces MND-type damage to cells.
Using stem cell technology to investigate the relationship between motor neurones and neighbouring cells
- Dr Gareth Miles and Prof Siddharthan Chandran
- University of St Andrews and University of Edinburgh
- £28,259 (PhD studentship) over one year
- Start date: October 2013
- Our ref: 6290 Oct12
This study will use cutting-edge technology to turn skin cells donated by people with MND and unaffected people into motor neurones and other types of cells found in the spinal cord (interneurones and support cells) in a laboratory dish. They will then record the function (electrical activity) of the resulting motor neurones, interneurones and support cells. This approach will allow this research group to directly assess the function, and dysfunction, of human, MND-affected motor neurones and their connections with other nearby cell types.
With increasing evidence of changes in the communication between motor neurones and their neighbouring spinal cord cells in MND, this research group expects their direct analyses of human spinal cord cells to reveal important new targets for the development of novel treatments.
The role of UBQLN2 and C9ORF72 in cellular models of MND/FTD
- Prof Derek Blake
- Cardiff University
- £184,005 (Biomedical project) over three years
- Start date: October 2012
- Our Ref: 6088 Oct 12
With MND Association funding Prof Derek Blake and his group were part of the international collaboration that identified the C9ORF72 gene as a major genetic cause of inherited MND and a related disease called frontotemporal dementia (FTD). This project aims to give us a better understanding of the disease by studying this and the UBQLN2 gene, along with their protein products, to see how they affect cells from removing damaged and unwanted proteins.
Using fruitflies to understand how mistakes in a gene called spatascin cause MND
- Dr Cahir O’Kane
- University of Cambridge (Department of Genetics)
- Grant awarded: £94,450 (PhD studentship) over three years
- Start date: 1 October 2012
- Our Ref:6283 Oct11
Mistakes (mutations) in a gene known as ALS5, or spatacsin, cause a rare form of juvenile-onset inherited MND. As yet, nothing is known about how faulty spatascin leads to motor neurone degeneration. In this studentship project, fruitflies will be used which lack their gene equivalent to spatascin. This new model will be used to understand the consequences of spatascin loss for motor neurone function. This may suggest future treatment possibilities for all forms of the disease, as well as deliver a well characterised new disease model that can be used by other researchers.
Characterising how C9ORF72 goes wrong in MND
- Dr Johnathan Cooper-Knock
- Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield
- Grant awarded: £192,130 (MRC/MND Association Lady Edith Wolfson Clinical Research Fellowship, MND Association contribution: £96,000) over three years
- Start date: September 2012
- Our ref: 6505
This project aims to identify how the C9ORF72 genetic mistake causes MND, allowing the characterisation of its function and the identification of therapeutic targets. This project will utilise cutting-edge genetic techniques and use the MND Association’s DNA bank to obtain cell samples, grown from blood, from people with the C9ORF72 genetic mistake. Post-mortem and skin cell samples will also be used in this study, from the Sheffield repository.
