Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data Workshop

Overview

The workshop objective was to discuss the development of an infrastructure for an Internet-based platform with common data elements utilizing a federated rare disease registry able to incorporate existing rare disease registries; patient organizations with no registry looking to establish one; and patients with no affiliation with a support group looking to belong to a registry. The expected outcome of the workshop was to gain acceptance of the concept of a federated rare disease patient registry and participation in creating this patient registry from as many curators of patient registries and other stakeholders as possible. Participating stakeholders standardized common data elements, vocabulary, and open source software to enable the exchange of data and information to facilitate research collaborations.