ILIAD connects all of our full members’ external databases, and biobanks for patients with dysmorphic/MCA syndromes and/or intellectual disability.
Through ERN-ITHACA’s expert and patient participation network, ILIAD provides an infrastructure for diagnosis, highly specialised multidisciplinary healthcare, evidence-based management, and collection of secure patient data.
ILIAD consists of two components:
- central, web-based registry,
- a network of linked satellite/client registries forming the ERN-ITHACA registry federation,
in databases built according to international interoperability standards from JRC and EJP-RD.
In addition to the core registry, ILIAD includes thematic sub-registries of patients with proven monogenic or genomic (chromosomal) diagnoses, curated by ERN teams.
Based on the open-source software MOLGENIS, it provides flexible rich data structures, user-friendly data import and querying, and a FAIR interface for database exchange. For interoperability, the registry is connected to the European Rare Disease Registry Infrastructure (ERDRI), uses the JRC’s common data elements and common pseudonymisation tools to link rare disease patient cohorts.
ILIAD has a strict data access policy for requesting access to the data, governance of the registries, compliance with legal and regulatory requirements on the use of personal data.
ERN-ITHACA patient data will be analysed to produce high-quality epidemiological insights and expert consensus statements, informing policy decisions that benefit ERN-ITHACA patients and all rare disease patients in general (this action is co-funded by the EU 3rd Health Programme: Grant number 947617).