A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not...

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Bibliographic Details
Published in:	Frontiers in public health Vol. 13; p. 1510818
Main Authors:	Baldovino, Simone, Sciascia, Savino, Carta, Claudio, Salvatore, Marco, Cellai, Laura L., Ferrari, Gianluca, Lumaka, Aimé, Groft, Stephen, Alanay, Yasemin, Azam, Maleeha, Baynam, Gareth, Cederroth, Helene, la Paz, Eva Maria Cutiongco-de, Dissanayake, Vajira Harshadeva Weerabaddana, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Hettiarachchi, Dineshani, Kvlividze, Oleg, Landoure, Guida, Makay, Prince, Melegh, Béla, Ozbek, Ugur, Pagava, Karaman, Puri, Ratna Dua, Romero, Vaness I., Scaria, Vinod, Jamuar, Saumya S., Shotelersuk, Vorasuk, Roccatello, Dario, Gahl, William A., Wiafe, Samuel A., Bodamer, Olaf, Posada, Manuel, Taruscio, Domenica
Format:	Journal Article
Language:	English
Published:	Switzerland Frontiers Media S.A 26.02.2025
Subjects:	advocacy groups diagnostic journey genomic diagnosis Global Health healthcare disparities Humans people living with URDs (PLURDs) Public Health Rare Diseases - diagnosis Surveys and Questionnaires Undiagnosed Diseases - diagnosis Undiagnosed Diseases - epidemiology undiagnosed rare diseases (URDs) healthcare disparities undiagnosed rare diseases (URDs) people living with URDs (PLURDs) genomic diagnosis advocacy groups diagnostic journey
ISSN:	2296-2565, 2296-2565
Online Access:	Get full text
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