RD-Connect: an international platform for rare disease data analysis and data sharing

rd connect

All ERN members are invited to join RD-Connect!

RD-Conntect is an EU-funded integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. It provides user-friendly tools for data analysis and links different data types – omics (e.g. genomics), clinical information, patient registries and biobanks – into a common resource.

By enabling scientists and clinicians around the world to analyse and share data and biosamples, RD-Connect speeds up research, diagnosis and therapy development to improve the lives of patients with rare diseases. It has three integrated online systems open to any rare disease:

1. Genome-Phenome Analysis Platform (GPAP) for analysis and sharing of omics data to diagnose patients and discover new disease genes.
2. Registry & Biobank Finder, a global directory of rare disease patient registries and biobanks.
3. Sample Catalogue, which helps researchers find rare biosamples stored in biobanks

RD-Connect is open for data submissions from ERNs and already holds thousands of secure, pseudonymised datasets. Data are linked at an individual per-patient level. Researchers can analyse data, find similar cases and related information such as availability of biomaterials.

Join the RD-Connect Community!

In July 2018 the new RD-Connect Community was launched. This is an international association of individuals and organizations who would like to participate in shaping the rare disease field, promote data sharing and reuse and advance research. Membership is free of charge and open to organisations, research groups and individuals from diverse backgrounds, engaged in rare disease research anywhere in the world.

For ERN clinicians

RD-Connect is working together with the ERNs to support them in their research and diagnostic goals. All ERNs are invited to submit their sequencing data and analyse them in RD-Connect, so if you have a cohort of undiagnosed patients with NGS data you would like support in reanalysing, connect to RD-Connect!

In particular, the RD-Connect Genome-Phenome Analysis Platform can be used by the ERN clinicians themselves to solve their unsolved cases.

In 2018 and 2019, as part of the Solve-RD project, the RD-Connect Genome-Phenome Analysis Platform will be used by clinicians and researchers from four ERNs for reanalysis of 19,000 undiagnosed exomes towards diagnosis and gene discovery.

Three Webinars are planned to train ERN members in using the RD-Connect tools:
 

If you are interested in atteding any of the webinars, please register with your email address and you will be sent a link to access the webinar. Registration is non-binding but allows RD-connect to send you the details and helps estimate the number of attendees.

Want to know more about RD-Connect? Read more here.
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