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Updated: May 22, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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关于未诊断的罕见疾病的全球调查:前景,挑战和解决方案

Simone Baldovino1, Savino Sciascia1, Claudio Carta2

  • 1Center 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.

Frontiers in public health
|March 13, 2025
PubMed
概括

未诊断的罕见病 (URD) 构成了全球性挑战,需要采取统一的方法. 加强国际合作和资源共享对于改善URD患者的诊断和护理至关重要.

关键词:
倡导团体的倡导团体.诊断的旅程 诊断的旅程基因组诊断 基因组诊断 基因组诊断医疗保健中的差异.那些生活在URD (PLURD) 的人不被诊断的罕见疾病 (URDs)

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