Evidence map›Paper›PMID 40078755›Full record

ArticleFrontiers in public health2025

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

Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam and 24 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in public health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

34 authors.

Simone Baldovino *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.
Savino Sciascia *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.
Claudio CartaNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Marco SalvatoreNational Center Rare Diseases - Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.
Laura L CellaiNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Gianluca FerrariNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Aimé LumakaReference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Stephen GroftNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, United States.
Yasemin AlanayACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye.
Maleeha AzamTranslational Genomics Laboratory, Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
Gareth BaynamRare Care, Clinical Centre of Expertise for Rare and Undiagnosed Diseases, Perth Children's Hospital, Perth, WA, Australia.
Helene CederrothWilhelm Foundation, Stockholm, Sweden.
Eva Maria Cutiongco-de la PazInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Vajira Harshadeva Weerabaddana DissanayakeDepartment of Anatomy, Genetics, and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Roberto GiuglianiHouse of Rares, Department of Genetics UFRGS and DASA, Medical Genetics Service, HCPA, Porto Alegre, Brazil.
Claudia Gonzaga-JaureguiInternational Laboratory for Human Genome Research, Universidad Nacional Autonoma de Mexico, Queretaro, Mexico.
Dineshani HettiarachchiDepartment of Anatomy, Genetics, and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Oleg KvlividzeGeorgian Foundation for Genetic and Rare Diseases (GeRaD), School of Medicine, New Vision University, Tbilisi, Georgia.
Guida LandoureFaculté de Médecine et d'Odontostomatologie, l'Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
Prince MakayReference Center for Rare and Undiagnosed Diseases, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Béla MeleghDepartment of Medical Genetics, School of Medicine, University of Pécs, Pécs, Hungary.
Ugur OzbekACURARE-Rare and Undiagnosed Diseases Center, Acibadem University, Istanbul, Türkiye.
Karaman PagavaDepartment of Child and Adolescent Medicine, Tbilisi State Medical University, Tbilisi, Georgia.
Ratna Dua PuriInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Vaness I RomeroSchool of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.
Vinod ScariaCSIR Institute of Genomics and Integrative Biology, New Delhi, India.
Saumya S JamuarGenetics 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.
Vorasuk ShotelersukCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Chulalongkorn University, Bangkok, Thailand.
Dario RoccatelloCenter 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.
William A GahlNational Institutes of Health, National Human Genome Research Institute, Bethesda, MD, United States.
Samuel A WiafeRare Disease Ghana Initiative, Accra, Ghana.
Olaf BodamerDivision of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.
Manuel PosadaRare Diseases Research Institute (IIER), SpainUDP, Instituto de Salud Carlos III (ISCIII), Madrid, Spain.
Domenica TaruscioNational Center Rare Diseases - Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 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.

Indexed as

Global HealthRare DiseasesUndiagnosed DiseasesHumansSurveys and Questionnairesadvocacy groupsdiagnostic journeygenomic diagnosishealthcare disparitiespeople living with URDs (PLURDs)undiagnosed rare diseases (URDs)

Identifiers

PMID40078755
PMCPMC11897027

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.