The Undiagnosed Diseases Network International: Five years and more!

Publication date: Available online 17 January 2020Source: Molecular Genetics and MetabolismAuthor(s): D. Taruscio, G. Baynam, H. Cederroth, S.C. Groft, E.W. Klee, K. Kosaki, P. Lasko, B. Melegh, O. Riess, M. Salvatore, W.A. GahlAbstractUndiagnosed rare diseases (URDs) account for a significant portion of the overall rare disease burden, depending upon the country. Hence, URDs represent an unmet medical need.A specific challenge posed by the ensemble of the URD patient cohort is the heterogeneity of its composition; the group, indeed, includes very rare, still unidentified conditions as well as clinical variants of recognized rare diseases. Exact disease recognition requires new approaches that cut across national and institutional boundaries, may need the implementation of methods new to diagnostics, and embrace clinical care and research. To address these issues, the Undiagnosed Diseases Network International (UDNI) was established in 2014, with the major aims of providing diagnoses to patients, implementing additional diagnostic tools, and fostering research on novel diseases, their mechanisms, and their pathways.The UDNI involves centres with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis, in particularly for ultra-rare diseases. Consequently, the UDNI fosters the translation of research into medical practice, aided by active patient involvement.The goals of the UDNI are to work collabora...

Source: Molecular Genetics and Metabolism - January 18, 2020 Category: Genetics & Stem Cells Source Type: research