A Global Survey about Undiagnosed Rare Diseases: Perspectives, Challenges, and Solutions
Simone Baldovino,Savino Sciascia,Claudio Carta,Marco Salvatore, Laura L. Cellai, Gianluca Ferrari,Aimé Lumaka, Stephen Groft,Yasemin Alanay,Maleeha Azam,Gareth Baynam, Helene Cederroth,Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake,Roberto Giugliani,Claudia Gonzaga-Jauregui,Dineshani Hettiarachchi, Oleg Kvlividze,Guida Landoure, Prince Makay,Béla Melegh,Ugur Ozbek,Karaman Pagava,Ratna Dua Puri, Vaness I. Romero,Vinod Scaria, Saumya S. Jamuar,Vorasuk Shotelersuk,Dario Roccatello,William A. Gahl, Samuel A. Wiafe,Olaf Bodamer, Manuel Posada,Domenica Taruscio Frontiers in Public Health（2025）
Key words
healthcare disparities,undiagnosed rare diseases (URDs),people living with URDs (PLURDs),diagnostic journey,advocacy groups,genomic diagnosis
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