RD-Connect does not have the status of a European Infrastructure, but it is a major project in rare disease research that develops robust mechanisms and standards for linking and exploiting existing data and new data generated in related rare disease research projects. RD-Connect develops a critical mass for harmonization and provides a strong impetus for a global “trial-ready” infrastructure ready to support the IRDiRC goals for diagnostics and therapies for rare diseases.
Which services are provided? - Global platform for data exchange Based on the data from Neuromics, EuRenOmics and other relevant initiatives , RD-Connect develops a robust data sharing and data federation hub in order to accelerate studies on the discovery of new genes, enhance the accuracy of diagnoses and facilitate the development of treatments. RD-Connect welcomes data from E-Rare research projects. Click here to contribute data to RD-Connect
- Ethics, legal and social issues In collaboration with patients and patients organizations, RD-Connect produces and implements guidelines and standards for effective and ethical data and sample sharing including informed consent procedure and protection of personal data.
- Databases and patient registries RD-Connect offers an online catalogue made up of a collection of existing databases, registries and biobanks called ID-Cards. It presents detailed information on the number of registered cases in each database, on the content of participating databases and procedures for ensuring quality of the data. In addition it contains disease matrix which lists ORPHAcodes, OMIM numbers and synonyms for every case allowing the link between rare diseases research across the world. Click here to access to the ID-Cards
- Clinical bioinformatics tools RD connect develops data mining and knowledge discovery bioinformatics tools for analysis and integration of molecular and clinical data to discover new disease genes, pathways and therapeutic targets Click here to access to clinical bioinformatics tools
How much does it cost? The service is free for all.
Countries involved in RD-Connect: - Full partners : partners from Australia; Austria; Czech Republic; France; Germany; Greece; Italy; Malta; Portugal; The Netherlands; Spain; Sweden; Switzerland; United Kingdom; United States - Associated partners from Belgium; Canada; France; Germany; Greece; Hungary; Italy; Japan; The Netherlands; Serbia; Spain - Observers : unlimited – international users
Find your national contact point by clicking on your country.
You have not found answers to your question, please send us your request and we will help you.