The RaDiCo information system for rare disease cohorts.

ABSTRACT:

Background

Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved. Current databases as well as biological collections, when existing, are generally local, of modest size, incomplete, of uneven quality, heterogeneous in format and content, and rarely accessible or standardised to support interoperability. Most disease phenotypes are complex corresponding to multi-systemic conditions, with insufficient interdisciplinary cooperation. Thus emerged the need to generate, within a coordinated, mutualised, secure and interoperable framework, high-quality data from national or international RD cohorts, based on deep phenotyping, including mo

SUBMITTER: Landais P 

PROVIDER: S-EPMC11980265 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature