Updates from the 2nd RD-Connect and NeurOmics meeting (Palma de Mallorca, 2015)

RD-Connect and NeurOmics held their annual meetings in Palma de Mallorca at the beginning of March 2015. Both meetings proved to be a great opportunity for project partners, associated partners and committee members to report on progress and achievements over the past year and to plan for future work. The meeting also provided a chance for members of the Joint Patient Advisory Council (PAC) and Rare Disease Patient and Ethics Council (RD-PEC) to meet and discuss ethical, social and participatory questions linked to research taking place in the context of RD-Connect and NeurOmics.

The focus of the first RD-Connect session was on the achievements and progress during Year 2. These include:

• The uploading, processing and analysis of the first exome datasets from the NeurOmics project through the standard analysis pipeline and their availability in the analysis platform. A total of 110 pilot samples are now in the RD-Connect system with almost 300 more samples ready for reprocessing through the standard pipeline.

• Policies for sharing of omics data within the research community and consenting guidelines have been developed and have now been implemented across all three IRDiRC projects.

• The launch of the RD-Connect Catalogue for registries and biobanks (including ID-Cards from 97 registries) and a standard mechanism for assessment of biobanks. Agreement on the decision to use the Human Phenotype Ontology (HPO) nomenclature as the primary phenotype ontology and the ORDO as the standard disease ontology.

• Development of bioinformatics tools which will be integrated into the central analysis platform or available as standalone tools.

The second day was devoted to interactive forward-looking sessions to make detailed plans for the work of the coming year. The online analysis platform will be further refined with feedback from end-users in order to make it even more valuable for analysis of genomic data and new gene finding. A further major focus of the work in the upcoming period will be incorporation of data from metabolomics, transcriptomics and proteomics experiments and cross-linking with sample-level data in the biobank sample database and with data in patient registries via linked data approaches. These issues were further explored in a technical meeting of all the bioinformatics developers working on the RD-Connect platform and related bioinformatics tools. Links with the large European Research Infrastructures on the ESFRI roadmap, in particular ELIXIR and BBMRI, will be expanded in 2015 with some joint pilot projects.

Prior to the start of the NeurOmics meeting, partners from both RD-Connect and NeurOmics were able to attend training courses in Biobanking for Beginners (Trainers: Marina Mora, Mirella Filocamo and Mary Wang), The European Genome-phenome Archive (Trainer: Jeff Almeida-King) and RD-Connect Platform Genomics Interface (Trainers: Sergi Beltran, Steve Laurie and Davide Piscia). Preliminary feedback from participants has been good with most finding the courses both informative and interesting. Training material based on these courses is being developed and will soon be available on the training section of the RD-Connect website.

In addition to progress within the project, participants were also given updates about impact and future joint activities between RD-Connect, NeurOmics and EURenOmics. One of the major activities for 2015 is the formation of a joint project Impact Board. The Impact Board will provide advice on how the outputs from the three projects can be best applied in the wider rare disease field. This will ensure the innovations generated within each project are disseminated into everyday scientific, clinical and industry practice as well as into national and international policy making.

Further information about Year 2 activity can be found in the 2014 publishable summary or in Issue 13 of the RD-Connect newsletter.