A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Abstrak
BackgroundUndiagnosed 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.MethodsWe 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.ResultsThe 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.ConclusionA unified commitment to prioritizing URDs on the global health agenda, paired with targeted funding, stipulated national strategies, and aligned international cooperation, is imperative to leveling the playing field for the diagnosis and management of URDs and capitalizing on the potential of Advocacy Groups as allies in this endeavor.
Topik & Kata Kunci
Penulis (34)
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
Akses Cepat
- Tahun Terbit
- 2025
- Sumber Database
- DOAJ
- DOI
- 10.3389/fpubh.2025.1510818
- Akses
- Open Access ✓