A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.
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| Title: | A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions. |
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| Authors: | Baldovino S; Center of Excellence on Nephrologic, Rheumatologic, and Rare Diseases (ERK-Net, ERN-Reconnect, and RITA-ERN Member) with Nephrology and Dialysis Unit, Coordinating Center of Piedmont, Valle d'Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy., Sciascia S; Center of Excellence on Nephrologic, Rheumatologic, and Rare Diseases (ERK-Net, ERN-Reconnect, and RITA-ERN Member) with Nephrology and Dialysis Unit, Coordinating Center of Piedmont, Valle d'Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy., Carta C; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Salvatore M; National Center Rare Diseases - Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy., Cellai LL; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Ferrari G; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Lumaka A; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Groft S; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States., Alanay Y; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye., Azam M; Translational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan., Baynam G; Rare Care, Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children's Hospital, Perth, WA, Australia., Cederroth H; Wilhelm Foundation, Stockholm, Sweden., la Paz EMC; Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Dissanayake VHW; Department of Anatomy, Genetics, and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Giugliani R; House of Rares, Department of Genetics UFRGS and DASA, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Universidad Nacional Autonoma de Mexico, Queretaro, Mexico., Hettiarachchi D; Department of Anatomy, Genetics, and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Kvlividze O; Georgian Foundation for Genetic and Rare Diseases (GeRaD), School of Medicine, New Vision University, Tbilisi, Georgia., Landoure G; Faculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali., Makay P; Reference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Melegh B; Department of Medical Genetics, School of Medicine, University of Pécs, Pécs, Hungary., Ozbek U; ACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye., Pagava K; Department of Child and Adolescent Medicine, Tbilisi State Medical University, Tbilisi, Georgia., Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Romero VI; School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador., Scaria V; CSIR Institute of Genomics and Integrative Biology, New Delhi, India., Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital and Paediatric ACP, Duke-NUS Medical School, and SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore., Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Bangkok, Thailand., Roccatello D; Center of Excellence on Nephrologic, Rheumatologic, and Rare Diseases (ERK-Net, ERN-Reconnect, and RITA-ERN Member) with Nephrology and Dialysis Unit, Coordinating Center of Piedmont, Valle d'Aosta Network for Rare Diseases, Department of Clinical and Biological Sciences, San Giovanni Bosco Hub Hospital, University of Turin, Turin, Italy., Gahl WA; National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, United States., Wiafe SA; Rare Disease Ghana Initiative, Accra, Ghana., Bodamer O; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States., Posada M; Rare Diseases Research Institute (IIER), SpainUDP, Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Taruscio D; National Center Rare Diseases - Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy. |
| Source: | Frontiers in public health [Front Public Health] 2025 Feb 26; Vol. 13, pp. 1510818. Date of Electronic Publication: 2025 Feb 26 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2296-2565 |
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| DOI: | 10.3389/fpubh.2025.1510818 |
