The RD-Connect Genome-Phenome Analysis Platform distinguished as a recognized resource by the International Rare Diseases Research Consortium.

Barcelona, April 11, 2018. - The RD Connect project, coordinated jointly by the CNAG-CRG and Newcastle University, has made an important breakthrough. The RD-Connect Genome-Phenome Analysis Platform has been accepted by the International Rare Diseases Research Consortium (IRDiRC) as a Recognized Resource. This label is a quality indicator, based on a specific set of criteria to highlight key resources, which, if used broadly, will accelerate the pace of translating discoveries in rare diseases into clinical applications.


The RD-Connect Genome-Phenome Analysis Platform, developed and hosted at the CNAG-CRG, securely integrates -omics data with clinical information, providing not only a centralized data repository but also a sophisticated and user-friendly online analysis system. IRDiRC has distinguished this tool for its fundamental importance to the international rare diseases research and development community.


The platform enables researchers and clinicians to perform genomic analysis of their patients online, and compare findings on their patients with other patients. This tool is one of the main outcomes of RD-Connect, the EU-funded project that has built a community of patients, clinicians, researchers and bioinformaticians in Europe and beyond, and has advanced collaboration and data sharing to facilitate and accelerate research for rare diseases. The platform already includes data from several thousand patients and has over 300 users.