The RD-Connect project received six-years funding (2012 - 2018) from the European Union, under the Seventh Framework Programme (FP7) grant, to create a unique infrastructure for rare disease research free to use by scientists and clinicians in Europe and around the world.
RD-Connect is a collaborative work of partners based in Europe and beyond.
As a member of the International Rare Diseases Research Consortium (IRDiRC), RD-Connect contributes to research, improving diagnostics and development of new therapies for the rare disease patients worldwide.
The RD-Connect Genome-Phenome Analysis Platform is a user-friendly tool that lets researchers and clinicians - even with no bioinformatic training! - analyse DNA sequencing data and link them to clinical information (i.e. description of symptoms of the patients). This helps to understand how genes determine the disease symptoms and their severity, make accurate genetic diagnosis and design better treatment.
RD-Connect has also developed several bioinfromatic tools, integrated in the Platform to make the analysis of patient data and interpretation of DNA sequencing results easier.
To help researchers who deal with patients' clinical information and biosamples, RD-Connect has created the Registry & Biobank Finder, which allows them to find patients registries and biobanks dealing with their rare disease of interest. In addition, the RD-Connect Sample Catalogue helps them browse and find biosamples from rare disease patients, such as blood and DNA, which they might use and re-use for research.
Watch the EURORDIS webinar about RD-Connect and how it benefits research and patients with rare diseases.
To ensure protection of patient privacy without compromising research and drug discovery, our team of experts on ethics, legal and social issues provides guidance to researchers and work on the most appropriate models for data sharing.
Rare disease patients and their representatives work in RD-Connect as well, to help other project members do the work in the most patient-centered and beneficial way.