A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
A 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.
Authors
- Béla Melegh (ORCID: https://orcid.org/0000-0002-2368-1182)
- Samuel Agyei Wiafe (ORCID: https://orcid.org/0000-0003-2125-2285)
- Claudio Carta (ORCID: https://orcid.org/0000-0003-3545-198X)
- Stephen C. Groft (ORCID: https://orcid.org/0000-0002-7532-8962)
- Laura L. Cellai
- Dario Roccatello (ORCID: https://orcid.org/0000-0002-4419-6813)
- Saumya S. Jamuar
- Vinod Scaria (ORCID: https://orcid.org/0000-0001-7644-7181)
- Savino Sciascia (ORCID: https://orcid.org/0000-0003-1266-9441)
- Ratna Dua Puri (ORCID: https://orcid.org/0000-0003-2694-6147)
- Prince Makay (ORCID: https://orcid.org/0000-0002-2910-9590)
- Simone Baldovino (ORCID: https://orcid.org/0000-0002-4475-4117)
- Maleeha Azam (ORCID: https://orcid.org/0000-0003-0170-3325)
- Marco Salvatore (ORCID: https://orcid.org/0000-0001-6402-2610)
- Vorasuk Shotelersuk (ORCID: https://orcid.org/0000-0002-1856-0589)
- Aimé Lumaka (ORCID: https://orcid.org/0000-0002-5468-8678)
- Guida Landouré (ORCID: https://orcid.org/0000-0002-5921-7832)
- Vajira H. W. Dissanayake (ORCID: https://orcid.org/0000-0002-3264-6856)
- Yasemin Alanay (ORCID: https://orcid.org/0000-0003-0683-9731)
- Ugur Ozbek
- Helene Cederroth (ORCID: https://orcid.org/0000-0002-5522-3418)
- D. Hettiarachchi (ORCID: https://orcid.org/0000-0002-1732-7339)
- Domenica Taruscio (ORCID: https://orcid.org/0000-0001-5403-233X)
- Oleg Kvlividze (ORCID: https://orcid.org/0000-0002-7279-3690)
- Gianluca Ferrari
- Manuel Posada de la Paz (ORCID: https://orcid.org/0000-0002-8372-4180)
- Claudia Gonzaga‐Jauregui (ORCID: https://orcid.org/0000-0002-4667-3679)
- William A. Gahl (ORCID: https://orcid.org/0000-0002-2494-6752)
- Olaf A. Bodamer (ORCID: https://orcid.org/0000-0002-7847-552X)
- Roberto Giugliani (ORCID: https://orcid.org/0000-0001-9655-3686)
- Gareth S Baynam (ORCID: https://orcid.org/0000-0003-4920-9553)
- Victor Romero (ORCID: https://orcid.org/0009-0004-4117-7416)
- Eva Maria Cutiongco‐de la Paz
- Karaman Pagava
Institutions
- Boston Children's Hospital (US)
- National Institutes of Health (US)
- Universidade Federal do Rio Grande do Sul (BR)
- Harvard University (US)
- SingHealth (SG)
- Chulalongkorn University (TH)
- COMSATS University Islamabad (PK)
- Institute of Genomics and Integrative Biology (IN)
- Istituto Superiore di Sanità (IT)
- Princess Margaret Hospital for Children (AU)
- Instituto de Salud Carlos III (ES)
- King Chulalongkorn Memorial Hospital (TH)
- Acıbadem University (TR)
- University of Kinshasa (CD)
- National Human Genome Research Institute (US)
- Université des Sciences, des Techniques et des Technologies de Bamako (ML)
- KK Women's and Children's Hospital (SG)
- Sir Ganga Ram Hospital (IN)
- Duke-NUS Medical School (SG)
- National Institute on Population Medical Genetics (BR)
- National Center for Advancing Translational Sciences (US)
- Ghana Health Service (GH)
- Perth Children's Hospital
- University of Turin (IT)
- University of the Philippines Manila (PH)
- Universidad San Francisco de Quito (EC)
- Tbilisi State Medical University (GE)
- University of Pecs (HU)
- Universidad Nacional Autónoma de México (MX)
- University of Colombo (LK)
Publication Details
- Journal
- Frontiers in Public Health
- Published
- 2025-02-26
- DOI
- https://doi.org/10.3389/fpubh.2025.1510818
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 5.45