行动中的公平:未被诊断疾病国际网络的诊断工作组
Elizabeth Emma Palmer1,2, Helene Cederroth3, Mikk Cederroth3
1Discipline 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.
NPJ genomic medicine
|July 4, 2024
概括
未诊断疾病网络国际诊断工作组 (UDNI DWG) 成立,以加速全球罕见疾病诊断. 它支持知识共享,并制定计划,特别是在资源较低的地区,以克服诊断障碍.
科学领域:
- 全球健康 全球健康
- 罕见疾病 罕见疾病
- 医学诊断 医学诊断 医学诊断
背景情况:
- 罕见疾病是全球卫生优先事项,但诊断是具有挑战性的,特别是对于服务不足的人群.
- 诊断障碍不成比例地影响低收入和中等收入国家的个人.
- 国际未诊断疾病网络 (UDNI) 成立于2015年,旨在解决罕见疾病诊断方面的知识差距.
研究的目的:
- 记录UDNI诊断工作组 (UDNI DWG) 的建立和共同设计.
- 概述 UDNI DWG 的目标:加速诊断,分享知识,促进发现.
- 支持开发未诊断疾病计划,特别是在资源有限的环境中.
主要方法:
- 在2021年建立UDNI DWG作为一个实践社区.
- 代的共同设计过程,涉及利益相关者.
- 专注于知识翻译和患者参与.
主要成果:
- UDNI DWG旨在加速全球更多家庭的诊断.
- 它旨在促进对罕见疾病诊断的知识和技能共享.
- 该集团促进发现,并扩大全球医学知识.
结论:
- 乌迪尼DWG是改善全球罕见病诊断的关键举措.
- 解决诊断方面的差异需要为服务不足的地区提供有针对性的支持.
- 合作努力对于推进罕见疾病研究和临床实践至关重要.
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