31 January 2014
The three linked projects funded by the European Commission as flagship “omics” research projects under the International Rare Diseases Research Consortium are now just over a year old. As they gear up for their annual joint meeting, RD-Connect, Neuromics and EURenOmics are also reflecting on their achievements in their first year of operation and planning their next steps.
For RD-Connect, the primary focus of the year has been on ensuring that the project is aligned with the needs of researchers submitting data to the system, and on developing interoperability with tools and projects operating in the same area. Bringing in new associated partners involved in related work has helped avoid duplication of effort and is enabling RD-Connect activities to be fully embedded in the wider rare disease and omics research communities. Thanks to extensive input from investigators working on rare disease omics research, who provided clear guidance on the tools and resources they need to facilitate their work, the foundations of the integrated platform for omics data have been put in place, and work is also progressing on integration of biomaterials and phenotypic data, with the development of a searchable online catalogue for biosamples and agreement on the use of standard terminology for phenotypic descriptions using the Human Phenotype Ontology.
The IRDiRC mandates that all data generated by the research projects it funds is released for the benefit of the wider research community. Neuromics and EURenOmics have committed to archiving their data in the European Genome-phenome Archive (EGA) at the EBI and sharing it within the RD-Connect system, and the first datasets have just been uploaded. The data-sharing policies established jointly by the projects protect patient data and allow investigators the time to analyse their own results first, but ensure that all data is ultimately shared so that it can benefit all researchers working on rare diseases.
A more detailed summary of RD-Connect’s first-year achievements can be downloaded here.