Over 3,400 people have contributed to the MND Association's DNA bank and clinical database over the eight years of the collection phase of the project. These samples and information have contributed to a range of different types of study.
Genome Wide Association Studies (GWAS)
GWAS studies perform a scan of the entire length of participants’ DNA, looking for genetic variations that are more frequent in people with MND compared to unaffected participants.
Copy number variation and homozygosity mapping
These techniques are used to study more subtle, genetic effects: ‘Recessive’ (homozygous) variations only show their effects when they are inherited from both parents. These are rarely investigated as causes of MND. ‘Copy number variations’ are areas of DNA that are duplicated. Some people have more copies of specific sections of DNA than others. MND may be caused by having too few or too many of these duplicated areas.
Gene expression profiling studies
Gene expression profiling allows researchers to understand how the activity of genes contributes towards causing MND. (Traditional genetic studies are designed to look at which genes are affected, rather than their activity – ie when and how).
Exploring genetic susceptibility in MND
In sporadic MND, normal, inherited, genetic differences may contribute to the risk of developing MND, but they are not the single cause of the disease. It is only in combination with environmental or lifestyle factors that these variations may affect the chances of developing the MND. Genes that contain these differences are known as ‘susceptibility genes’.