Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)

May 2022 in “ Orphanet Journal of Rare Diseases ”

Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, Jan De Bleecker, Patrick Santens, Paul Boon, Guy Lochard, Tessa Kerre

whole exome sequencing genotype-phenotype correlations genetic origin disease genes molecular cause therapeutic recommendations gene-specific genetic counseling actionable secondary findings WES

Studysummary This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

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