Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and mi...

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Bibliographic Details
Published in:Npj genomic medicine 2024-07, Vol.9 (1), p.37-7, Article 37
Main Authors: Palmer, Elizabeth Emma, Cederroth, Helene, Cederroth, Mikk, Delgado-Vega, Angelica Maria, Roberts, Natalie, Taylan, Fulya, Nordgren, Ann, Botto, Lorenzo D.
Format: Article
Language:English
Subjects:
692/4017
692/700/139/1512
Bioinformatics
Biomedical and Life Sciences
Biomedicine
Diagnosis
Gene Function
Gene Therapy
Human Genetics
Internal Medicine
Medical Genetics and Genomics
Medicinsk genetik och genomik
Perspective
Public health
Rare diseases
Working groups
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Summary:Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized health care. However, barriers to rare disease diagnoses are especially steep for those from historically underserved communities, including low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was launched in 2015 to help fill the knowledge gaps that impede diagnosis for rare diseases, and to foster the translation of research into medical practice, aided by active patient involvement. To better pursue these goals, in 2021 the UDNI established the Diagnostic Working Group of the UDNI (UDNI DWG) as a community of practice that would (a) accelerate diagnoses for more families; (b) support and share knowledge and skills by developing Undiagnosed Diseases Programs, particularly those in lower resource areas; and (c) promote discovery and expand global medical knowledge. This Perspectives article documents the initial establishment and iterative co-design of the UDNI DWG.
ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-024-00422-y