This webinar explains how ERDERA’s Diagnostic Research Workstream (DRW) reanalyses data from unsolved rare disease cases to identify new molecular diagnoses. Lisenka Vissers (Radboud university medical center, Nijmegen, the Netherlands) presents the reanalysis workflow, from standardised analysis pipelines and ERN-specific Data Interpretation Task Forces (DITFs) to interdisciplinary Solvathons, and shows how consortium research informs new standard pipelines. Participants will learn how systematic reanalysis works in practice and what drives diagnostic yield.
Speaker: Lisenka Vissers, Radboud university medical center, Nijmegen, the Netherlands
Time: 1:00 PM to 2:00 PM CET
About the ERDERA Diagnostic Research Workstream Webinar Series.
The series brings together ERN healthcare professionals, clinicians, geneticists, researchers, and other stakeholders to learn about the work, progress, and outcomes of the ERDERA Diagnostic Research Workstream (DRW).
Sessions will cover the full scope of the workstream, from governance and methodology to concrete analytical results, offering audiences a transparent and evolving view of how ERDERA is advancing diagnostics in rare diseases.
Delivered as online webinars, the series is accessible to both internal ERN audiences and external expert communities, reflecting ERDERA’s commitment to open knowledge-sharing and collaboration across borders.
Find out more here.