About RD-Connect

RD-Connect is a global platform that facilitates research on rare diseases by connecting databases, patient registries, biobanks and clinical bioinformatics data into a central resource for researchers worldwide.

In its initial phase, RD-Connect received six-years funding (2012 - 2018) from the European Union, under the Seventh Framework Programme (FP7) grant, as a project to create a unique infrastructure for rare disease research free to use by scientists and clinicians in Europe and around the world. In October 2018, RD-Connect has fully developed its tools, which are now available to the rare disease research community worldwide.

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 bioinformatic 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.
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 way.
For an overview on RD-Connect, read the article published by the Rare Revolutions Magazine.

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