Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

Abstract Background In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital in Belgium. In this study we report the five-year results of our multidisciplinary appro...

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Bibliographic Details
Main Authors: Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, for UD-PrOZA
Format: Article
Language:English
Published: BMC 2022-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Rare diseases
UD-PrOZA
Diagnostic odyssey
Whole exome sequencing
Diagnostic yield
MAP3K7
Online Access:https://doi.org/10.1186/s13023-022-02365-y

Internet

https://doi.org/10.1186/s13023-022-02365-y

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