The UK Whole Genome Sequencing project

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Dr Samantha Price is the Research Information Co-ordinator at the MND Association. As well as organising the ‘blog a day’ during MND Awareness Month she also communicates the latest news about MND research. Here she blogs about the MND Association’s announcement of the UK Whole Genome Sequencing project.

It’s been a brilliant Awareness Month with blogs about zebrafish research and streaking meerkats. To end on a positive research note, we’re delighted to announce that we are funding a UK Whole Genome Sequencing project to help us understand more about the causes of MND. Utilising samples from our own UK MND DNA bank; researchers in the UK will aim to sequence 1,500 genomes to help identify more of the genetic factors involved in the disease. 

What we know about the causes of MND

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.

A combination of these factors are thought to ‘tip the balance’ as to whether someone develops MND. Most researchers now believe that gene-environment interactions are at play, with predisposing individual genetic variations playing a major role in the majority of cases of MND.

So far we have identified a small number of these genetic variations; however more research is needed to identify the rarer genetic changes. This is where the UK Whole Genome Sequencing project comes in to play.

The project

The UK initiative, known as the ‘Whole Genome Sequencing project’, is funded by the MND Association with the aim of sequencing over 1,500 genomes (a genome represents the total genetic make-up of an individual); utilising the samples already collected in the UK MND DNA Bank. The MND Association has made an initial commitment of over £800,000 over the next two years in a hope that by sequencing the entire genomes of these individuals, researchers can identify these rarer genetic variations.

In genetic research, bigger is better, so the UK initiative will run in collaboration with Project MinE. By collaborating with Project MinE, this unique international collaboration aims to further identify more of the rarer predisposing genetic factors involved in the disease.

The UK MND DNA Bank samples

The UK Whole Genome Sequencing project will use the already collected samples in the UK MND DNA bank, which were donated by people living with MND and their family members from 2003 – 2011.

Specifically, the project will be sequencing the genomes of the 1,500 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. Find out more about the bank  in our Research Information Sheet J: What happened to my DNA bank sample?

Thanks to the detailed clinical information that accompanies the samples, the researchers 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 too!

The people

Behind every great project, there are great minds at work. In order to generate high quality research, which can improve our understanding of MND, we need the best MND researchers in the UK working on the project.

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), the researchers behind the UK MND DNA Bank, will be leading the UK initiative, which will begin in Autumn 2014.

Dr Brian Dickie, Director of Research Development
Dr Brian Dickie, Director of Research Development

Dr Brian Dickie, Director of Research Development at the Association said: “When we first set up the DNA Bank a decade ago, a project like this would have been unfeasible – it would have cost over £30 million to sequence a single genome! Now, thanks to the amazing advances in technology and through collaboration with Project MinE, the cost per genome is closer to £1,500 – around 20,000 times cheaper.”

“We hoped that the DNA Bank would help stimulate greater collaboration, so it is exciting that the results of the UK project will be combined with those from other countries participating in the Project MinE initiative, to advance our collective knowledge about this devastating disease.”

We would like to thank the people with MND and their families across the UK who took part and donated samples to the UK MND DNA Bank, without your help this project would not be possible.

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