Whole Genome Sequencing Project
Our UK Whole Genome Sequencing project, part of a larger international initiative called Project MinE will contribute to a better understanding of the causes of MND.
What is the project about?
Thanks to the incredible advances in genetic research, we now know approximately 60% of the genetic causes of the rare inherited forms of MND (5-10% of total MND cases). However, the majority of cases of MND (sometimes known as sporadic MND) are believed to be caused by a combination of many subtle genetic, lifestyle and environmental factors. To date, we have identified a small number of the genetic factors involved in the majority of cases of MND. However, this unique international collaboration aims to identify more of the predisposing genetic factors involved in the disease.
Thanks to the detailed clinical information that accompanies the samples, we will also be able to search for genetic factors that are associated with slower disease progression, which may open up new approaches to treating the disease.
What does the project aim to do?
The UK initiative, the 'Whole Genome Sequencing project', funded by the MND Association aimed to sequence over 1,500 genomes (a genome represents the total genetic make-up of an individual), utilising the samples already collected in the UK MND Collections DNA Bank. The MND Association has made an initial commitment of over £800,000 over two years on the basis that by sequencing the entire genomes of these individuals, this will lead to the identification of new genetic variations.
Prof Ammar Al-Chalabi, Prof Chris Shaw (both King's College London), Prof Karen Morrison (University of Birmingham) and Prof Dame Pamela Shaw (University of Sheffield) are leading the UK initiative, which began in Autumn 2014.
In genetic research, bigger is better, so the UK initiative will run in collaboration with Project MinE. Project MinE is an international initiative, which aims to sequence 15,000 MND genomes across several participating countries including Belgium, France, America and Australia.
The initial target has been achieved by 2016, and we have set a new aim to sequence further 700 samples, making the UK contribution to Project MinE near to 10% of total genomes.
About the samples
This project is using samples already collected and held in the UK MND Collections DNA bank. They were donated by people living with MND and their family members between 2003 and 2011. Specifically, the project is sequencing the genomes of the samples donated by people living with the non-inherited 'sporadic' form of MND.
At present there are no plans to re-open the collection phase. You can find out more about the bank in our Research Information Sheet J: What happened to my DNA bank sample?
How can I help?
This project is supported by the MND Association and relies entirely on donations. You can help us achieve our vision of a world free from MND by making a donation to the project.
Read more about the UK Whole Genome Sequencing on our MND Research Blog.