NeurOmics project reaches a significant milestone in its data-sharing plans

16 July 2014


NeurOmics is a consortium of European and worldwide experts in neuromuscular and neurodegenerative conditions, bioinformatics and –omics technologies. The project has 21 partners, is funded for 5 years under the EU FP7 scheme and is conducting cutting edge research into genetic causes, modifying factors, biomarkers and potential new therapies for neuromuscular and neurodegenerative diseases. Led by coordinator Professor Olaf Riess at Tübingen University and co-coordinators Professor Brunhilde Wirth (Cologne) and Professor Gert-Jan van Ommen (Leiden), NeurOmics has close ties with RD-Connect and the two teams are working together to help shape the rare-disease platform. NeurOmics is also providing some of the first data to be integrated into the RD-Connect platform and this process is now well underway with the first steps on the road to data-sharing being taken.

In order to achieve the desired aims of sharing data within the NeurOmics consortium and then more widely with RD-Connect, partners across NeurOmics have agreed and signed up to a data-sharing policy which both protects patient confidentiality and allows secure flow of data between those who need access in order to advance research into rare disease. In the first instance this policy means that data generated within the NeurOmics project is private to the individual investigator for the first 6 months and then becomes available across the consortium.

The 16th July 2014 marked the end of the 6 month ‘private’ period for the first batch of NeurOmics data. This sees both the deep-phenotyping information which has been entered into a bespoke, secure database using the PhenoTips system and raw sequencing data generated by whole-exome sequencing at deCODE becoming available to all NeurOmics partners. This is crucial in order to allow the comparison of results between different conditions with phenotypic overlap and to provide a larger set of sequencing data in which to check for variants which may or may not be associated with those phenotypes.

This is a significant milestone for the NeurOmics project and demonstrates partners’ absolute commitment to collaboration and pooling of data in order to advance research together. The implications for RD-Connect are important too – the next phase of the data-sharing process means that after a further 12 months, this first batch of NeurOmics data will become securely available to the wider rare-disease community via the RD-Connect platform and the European Genome-phenome Archive (EGA). Access to this data will always be overseen by a data-access committee who have the mandate to grant access to any legitimate researcher. The use of this important dataset by other researchers for the benefit of research into these conditions will be actively promoted. Even before the “official” release, many NeurOmics datasets have already been made available to RD-Connect to test the variant calling and analysis pipelines and some new candidate genes have been identified and are being followed up.

RD-Connect coordinator Professor Hanns Lochmüller said, “RD-Connect enthusiastically welcomes the successful achievement of this first and crucial step in NeurOmics’ data-sharing. The willingness of the consortium’s partners to collaborate in this way and the infrastructure that the project has established to enable easy but secure access to each other’s data is extremely encouraging and bodes well for the future of data-sharing in rare disease and indeed for the RD-Connect rare-disease platform itself.”

For further information about the project or for details on the data-sharing process in NeurOmics, please visit