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

Autor: Palmer EE; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia. Elizabeth.palmer@unsw.edu.au.; Centre for Clinical Genetics, Sydney Childrens' Hospitals Network, Sydney, NSW, Australia. Elizabeth.palmer@unsw.edu.au., Cederroth H; Wilhelm Foundation, Stockholm, Sweden., Cederroth M; Wilhelm Foundation, Stockholm, Sweden., Delgado-Vega AM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Roberts N; Discipline of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia., Taylan F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Institute of Biomedicine, Department of Laboratory Medicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Jazyk: angličtina
Zdroj: NPJ genomic medicine [NPJ Genom Med] 2024 Jul 05; Vol. 9 (1), pp. 37. Date of Electronic Publication: 2024 Jul 05.
DOI: 10.1038/s41525-024-00422-y
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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