Periodic activity reports

RD-Connect four years on

January 3, 2017

At the end of its fourth year, RD-Connect is a recognised resource within the rare disease genomic research community. The maturity of the central RD-Connect platform as a tool for genomic analysis has facilitated many new data-focused collaborations in 2016. Poster and platform presentations at a number of international conferences, both disease-specific and genetics-focused, have encouraged researchers to submit data to the system, and around 2000 further datasets from new projects are set to arrive in early 2017. While most of the data in the platform to date has previously been analysed with other tools, many of the new datasets will be analysed through the RD-Connect analysis interface for their primary analysis, and the results of this activity in terms of diagnostic outcomes, gene discovery results and user satisfaction will be of crucial importance to cement the place of RD-Connect as a useful tool for rare disease genomics research.

RD-Connect three years on

May 23, 2016

RD‐Connect is a global research and infrastructure resource for rare diseases. Set up to overcome the siloing, fragmentation and inaccessibility of datasets from different projects, it links omics data with phenotypic data and information in registries and biobanks at both an individual‐patient and whole‐cohort level to enable researchers to analyse their own data and gain a complete view of their disease and patient population of interest. Data shared through RD‐Connect is accessible beyond the usual institutional and national boundaries and researchers across the world can benefit from the opportunity to work with others with an interest in the same field, pool data to create larger cohorts, find confirmatory cases, and access samples for further study.

RD-Connect two years on

January 30, 2015

Funded as part of the EU’s commitment to the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project that links omics data with databases, registries, biobanks, and clinical bioinformatics tools into a central research resource for rare diseases. It has been set up to address the problem of fragmentation in the rare disease research field, where individual efforts often have poor interoperability and do not systematically connect data across the levels of clinical phenotype, genetics and omics data, biomaterial availability and research/trial datasets. This data must be linked at both an individual-patient and whole-cohort level to enable researchers to gain a complete view of their disease and patient population of interest.

RD-Connect one year on

January 31, 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.