Rare Diseases Infrastructure

This Study will build on recent developments across the RD community by aligning and securely interconnecting existing international infrastructures (RD-Connect, European Genome-phenome Archive (EGA), and tranSMART) with the general ELIXIR infrastructure. Tasks will develop upon services provided by ELIXIR Nodes and international standards such as those from the Global Alliance for Genomics and Health (GA4GH).

This proposal will also build on the FAIR metrics described by Wilkinson et al. to establish a framework for RD data FAIRification by providing RD-specific recommendations and FAIRness scores. This framework will be evaluated through the FAIRNess estimation of different key RD resources such as Orphanet and the RD-Connect platform. Once defined, the RD-adapted FAIR metrics will be prepared for IRDiRC recognition to serve the entire RD community.

The Study will develop further a number of recent Implementation Studies: 


1 January 2019 to 31 December 2021

Nodes involved: