Connecting rare disease researchers worldwide
Around 30 million Europeans suffer from a staggeringly long list of rare diseases, many of which can severely affect quality of life and life expectancy. Thanks to recent progress in genetic sequencing and innovative new technologies, researchers can now study rare diseases, improve their diagnosis, and develop more effective treatments. However, because of their rarity, research and therapy development for these diseases can be challenging, requiring that researchers join efforts and share data across countries. The RD-Connect project makes this possible. “RD-Connect is an international community working towards accelerating rare disease research worldwide,” says project researcher Dr Ivo Gut. “Its innovative global RD-Connect Platform facilitates research on rare diseases by connecting databases, patient registries, biobanks, and clinical bioinformatics data into a central resource available to researchers across the globe.” Linking data and researchers To help researchers study rare diseases, RD-Connect links a range of different data types into a common resource. This enables scientists and clinicians – regardless of their location – to analyse and share genomics data. “By making data accessible beyond the usual institutional and national boundaries, RD-Connect accelerates research, diagnosis, and therapy development to improve the lives of patients suffering from a rare disease,” explains project researcher Prof. Hanns Lochmüller. The project consists of three integrated online systems, each of which are open to any rare disease. For example, the Genome-Phenome Analysis Platform is available for the analysis and sharing of omics data used to diagnose patients and discover new disease genes. The Registry and Biobank Finder serves as a global directory of rare disease patient registries and biobanks, while the Sample Catalogue is geared towards helping researchers find rare bio-samples stored within these biobanks. Data in all three systems is linked at an individual per-patient level, making it easy for researchers to use, find similar cases, and access related information. The RD-Connect Community Despite holding data on over 4 000 genomes and playing a role in the discovery of dozens of novel disease genes, perhaps the project’s biggest achievement is its creation of a global community of experts. “Established in 2018, the RD-Connect Community is an international association for anyone who wishes to participate in shaping the rare disease field, promote data sharing and reuse, and advance research,” says Dr Gut. Membership in the community is free of charge and open to organisations, research groups, and individuals who are engaged in rare disease research anywhere in the world. “Interest in the community is high,” adds Prof Lochmüller. “We have already received over 300 registrations from 28 countries – covering all continents except Antarctica!” Although the RD-Connect Project has ended, the infrastructure it established will continue via other EU-funded projects, and as part of the International Rare Disease Research Consortium (IRDiRC), the European Reference Networks (ERNs), and the European Joint Programme for Rare Diseases (EJP-RD). Meanwhile, the RD-Connect Community will be housed at the Centro Nacional de Análisis Genómico (CNAG) in Barcelona, Spain.
Keywords
RD-CONNECT, rare diseases, rare disease research, International Rare Disease Research Consortium (IRDiRC), European Reference Networks (ERNs), European Joint Programme for Rare Diseases (EJP-RD), Centro Nacional de Análisis Genómico (CNAG)
