ERDERA interviews Bojana Mirosavljevic, scientist and founder of the Život/Life association in Serbia; and one of the country’s leading voices rare disease patient advocacy.
This meeting will focus on practical approaches to phenotyping and diagnosis in undiagnosed conditions, including how to define next steps when a diagnosis remains uncertain, and how to strengthen pathways and collaboration around undiagnosed care.
Long-read genome sequencing (lrGS) has the potential to consolidate current standard-of-care (SoC) diagnostics into a single assay, but its accuracy and clinical utility in routine practice have not been established at large scale.
The Solve-RD consortium demonstrates how structured multidisciplinary “Solvathons” can address the growing complexity of advanced omics diagnostics and improve collaborative rare disease diagnosis.
