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

作者：Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen C. Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco‐de la Paz, Vajira H. W. Dissanayake, Roberto Giugliani, Claudia Gonzaga‐Jauregui, D. Hettiarachchi, Oleg Kvlividze, Guida Landouré, 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 Agyei Wiafe, Olaf A. Bodamer, Manuel Posada de la Paz, Domenica Taruscio · 发表于：Frontiers in Public Health · 年份：2025 · DOI：10.3389/fpubh.2025.1510818 · 被引用次数：4 · 研究领域：Genomics and Rare Diseases、Cystic Fibrosis Research Advances、BRCA gene mutations in cancer

Background: 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 universally accepted, it is widely recognized. Methods: We surveyed UDNI members and participants from other countries to explore the challenges posed by URDs and identify possible solutions. Participation in the survey was completely voluntary. Results: The survey revealed a need for more consensus on a universally accepted definition for URDs. Still, the UDNI definition gained widespread recognition and serves as a valuable framework for understanding and addressing the challenges of URDs. In addition to national or international networks, fostering a more substantial engagement and resource-sharing ethos among member countries is critical. Despite advances in genomics and diagnostic tools, the diagnostic journey for people living with URDs (PLURDs) remains arduous and often inconclusive. The availability of specialized centers and the utilization of whole exome sequencing (WES) and whole genome sequencing (WGS) vary across countries, with disparities due to healthcare systems, economic status, and government policies. Advocacy groups play a crucial role in supporting PLURDs. Conclusion: A unified commitment to prioritizing URDs on the global health agenda, paired wit...