RD-Connect began as a six-years project (2012 - 2018) funded by the European Commission, under the FP7 grant to create a unique infrastructure for rare disease research. In the collaborative work of partners in Europe and beyond, RD-Connect developed an integrated platform, which is now available free to use by scientists and clinicians in Europe and around the world.
As a member of the International Rare Diseases Research Consortium (IRDiRC), RD-Connect contributed to research, improving diagnostics and development of new therapies for the rare disease patients worldwide.
One of the key achievements of the project was creating a unique, international community bringing together experts from across disciplines working together to accelerate rare disease research. To open this work to more stakeholders, the RD-Connect Community was officially established in July 2018 and has now members from all continents except from Antarctica!
The RD-Connect tools
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, the experts on ethics, legal and social issues engaged in RD-Connect provide guidance to researchers and work on the most appropriate models for data sharing.
Rare disease patients and their representatives are engaged in RD-Connect as well, to help other 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.
