Friday, 23 September 2016

Importance of Collaborations

The Importance of Collaborations – A Personal View

This month has seen the publication of two important papers on the genetics of ALS. The first paper describes how variants within three genes (C21orf2, MOBP and SCFD1) which have not previously been linked to ALS have been identified as risk factors for the disease, including in sporadic ALS where there is no family history of disease. The second paper describes how risk variants in NEK1 have been identified in 3% of European and European-American ALS cases. One of the important features of both of these papers is that the results have come about through collaborations, not only nationally, but internationally. Research groups from across the UK, Europe, Turkey, United States and Australia all contributed patient samples to provide the largest cohorts to date for these types of analyses (and these cohorts also included samples collected in Sheffield). This international collaboration is part of an ongoing project “Project MinE” (, which aims to sequence the entire genome of 15,000 ALS patients and 7500 controls. The work is being funded by organisations in each of the contributing countries. In the UK, it is the Motor Neurone Disease Association (MNDA) who is raising the funds to sequence patients DNA and this is where some of the Ice Bucket Challenge money raised in 2014 has been spent.

Many other successful collaborations have also involved the researchers in Sheffield, including European collaborations to understand mitochondrial dysfunction in neurodegeneration (MITOTARGET) and to identify novel therapies through a systems biology approach integrating genetic, environmental, and other –omics data (transcriptomics/proteomics/metabolomics) from patients as well as cellular and animal models (EuroMOTOR). These projects were both funded by the EU and one of the unseen benefits was that this brought together a network of researchers with a range of expertise from across Europe. Subsequently, when the EU Joint Programme for Neurodegenerative Research (JPND) called for projects, the network applied successfully for funding to optimise and harmonise of sampling across the consortia partners (SOPHIA) as well as to discover factors that are associated with risk of ALS and specifically those associated with the rate of progression (STRENGTH).

By understanding the disease better, we are in a stronger position to identify therapeutic targets which could improve quality of life, reduce or stop disease progression, and one day perhaps cure ALS. By working together, joining forces, expertise and resources, it is hoped that these results will come sooner.

 Dr Janine Kirby

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