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.
ERN members: join RD-Connect and attend our webinars to find out how we can support your research
An invitation for ERN members to join RD-Connect, an international platform for rare disease data analysis and data sharing
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.
Opportunities for ERN clinicians to use RD-Connect tools
RD-Connect is working together with the ERNs to support them in their research and diagnostic goals. 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. GENTURIS, EURO-NMD, ITHACA, and ERN-RND are full partners in Solve-RD, with six more ERNs as associated partners. However, 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, we would love to hear from you!
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. Several ERNs have signed up as members, but we would be delighted to receive registrations from individual healthcare professionals HCPs and research groups.
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.