Data-sharing in NeurOmics: enabling effective collaboration and working with RD-Connect

Within the NeurOmics project 1100 samples from across 10 rare neurodegenerative and neuromuscular diseases will undergo whole exome sequencing. In addition patients will be deep phenotyped, RNAseq will be carried out and biomarker studies are to be developed – this will all lead to improved understanding of the conditions, causative and modifier gene discovery, more diagnoses and the identification of potential therapeutic targets.

For these ambitious aims to be realised, both omics and phenotypic data should be accessible for study by NeurOmics partners across the disease groups. In order to enable this, the NeurOmics project has built an online clinical database in which all phenotypic data is mapped to the Human Phenotype Ontology (HPO), and has established data sharing policies and procedures in close collaboration with RD-Connect. This means that partners are committed to collaborative working within the consortium now and to wider data-sharing via the RD-Connect platform and the European Genome-phenome Archive (EGA) in future, according to agreed timelines that ensure all NeurOmics data is ultimately accessible to researchers worldwide. The policies in place ensure that investigators’ rights to publish first and to intellectual property are protected whilst information sharing is facilitated. They also ensure that NeurOmics complies with the policies of the International Rare Diseases Research Consortium (IRDiRC), which mandates timely sharing of source data for the benefit of the rare disease research community. The NeurOmics policies also recognise the importance of patient consent - where this does not permit wide sharing of anonymised data, patients are to be reconsented before inclusion in the database.

These policies have now been agreed and approved by the NeurOmics Steering Committee. This poster outlines how this has been achieved and describes the plans for future working with RD-Connect.