RD-Connect 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.
RD-Connect has built three integrated online systems open to any rare disease:
- Genome-Phenome Analysis Platform (GPAP) for analysis and sharing of omics data to diagnose patients and discover new disease genes
- Registry & Biobank Finder, a global directory of rare disease patient registries and biobanks
- 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. In collaborations with other EU projects, RD-Connect has already contributed to the discovery of dozens of novel disease genes.
Webinars
Together with the ERN EURO-NMD, RD-Connect is organising a series of webinars aiming to train ERN members at all levels. The webinars will let you learn how the RD-Connect tools can help you in your everyday work.
If you are interested in any of the webinars below, please register with your email address to be sent the final details and a link to access the webinar. Registration is non-binding but allows us to send you the details and helps us estimate the number of attendees. Precise times for the webinars will be confirmed later in August on the RD-Connect website and to everyone who registers via the link below.
Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform
Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain
Thursday 6th September 2018, 15:00 CEST
Register your interest here
In this webinar, you will learn how to use the powerful and user-friendly analysis tools in the GPAP to interpret, filter and prioritise your variants to identify disease-causing mutations and help diagnose your rare disease patients. The system also allows you to compare your data with data submitted by other members of the RD-Connect community, and further afield, to find confirmatory cases for your candidate variants.
Finding registries and biosamples in just a few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue
Mary Wang, Fondazione Telethon, Milan, Italy
Tuesday 18 September 2018, 15:00 CEST
Register your interest here
This webinar will demonstrate how to use two tools that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let you find rare disease biobanks and browse their sample collections, with detailed information about each individual sample.
Linking up all those data: why should we make data FAIR
Marco Roos, Leiden University Medical Center, The Netherlands
Date: tbc
Register your interest here
The webinar will explain what makes data Findable, Accessible, Interoperable and Reusable (FAIR) and why it is critical that different types of information, such as medical records, clinical and phenotypic data, test results, sequencing data and biosample details are made FAIR at the source.
If you are interested in any of the above webinars, please register and you will receive the link to the webinar by email closer to the date. Please register here.
