Rare disease (RD) research has historically been fragmented by data type, research institution and disease. Individual efforts are rarely interoperable and cannot be pooled. It can be almost impossible to connect clinical information on the symptoms from one database with genetic information from another, or with information on whether a biomaterial sample or data from clinical research studies are available.
Linking up individual patient data enables researchers to gain overview of a disease without having to collect all the information from scratch. Access to other researchers’ data (with adequate data protection) allows researchers in other institutions to compare results and gain new insights.
By developing robust mechanisms and standards for linking and exploiting existing data and new data generated in related rare disease research projects, RD-Connect will develop a critical mass for harmonisation and provide a strong impetus for a global “trial-ready” infrastructure that is ready to support the International Rare Diseases Research Consortium (IRDiRC) goals for diagnostics and therapies for rare diseases.
RD-Connect’s primary objectives are:
- Harmonisation and development of common standards for databases and patient registries for rare diseases by collaborating internationally to implement common registry infrastructure and data elements across a federated system.
- Harmonisation and development of common standards and a common catalogue for rare disease biobanks that collect and provide standardised, quality-controlled biomaterials for translational research.
- Development of a suite of clinical bioinformatics tools, including data mining and knowledge discovery tools for analysis and integration of molecular and clinical data to discover new disease genes, pathways and therapeutic targets.
- Development of an integrated platform to host the processed data from the research projects Neuromics, EURenOmics and future IRDiRC projects.
- Development of best ethical practices for balancing patient-related interests associated with rare disease research using databases/registries, biobanks and omics databases, engaging with relevant stakeholders, including patient organisations, clinical and research networks, legislators and policymakers and the pharmaceutical industry
- Development of a proposal for an expedient regulatory framework for linking of medical and personal data related to rare disease on a European and global level.
- Ensuring access to project results and broad and global impact in science, diagnostics and translational research including industrial collaborations.