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Rare diseases: challenges and opportunities for research and public health.

作者信息

Taruscio Domenica, Gahl William A

机构信息

Study Centre KOS - Science, Art, Society, Rome, Italy.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

Nat Rev Dis Primers. 2024 Feb 29;10(1):13. doi: 10.1038/s41572-024-00505-1.

DOI:10.1038/s41572-024-00505-1
PMID:38424095
Abstract
摘要

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Rare diseases: challenges and opportunities for research and public health.罕见病：研究与公共卫生面临的挑战与机遇
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Focusing on rare diseases in China: are we there yet?聚焦中国的罕见病：我们做到了吗？
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The rare disease burden: a multidimensional challenge.罕见病负担：一项多维度挑战。
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Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.参与国际未确诊疾病网络的国家中未满足的需求：一项考虑国家医疗保健和经济指标的国际调查。
Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023.
2
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry.罕见病诊断延迟：来自西班牙罕见病患者登记处的数据。
Orphanet J Rare Dis. 2022 Nov 17;17(1):418. doi: 10.1186/s13023-022-02530-3.
3
Free sialic acid storage disorder: Progress and promise.
Bioinformatics. 2025 Jul 1;41(7). doi: 10.1093/bioinformatics/btaf382.
4
Psychosocial Factors Involved in Genetic Testing for Rare Diseases: A Scoping Review.罕见病基因检测中的社会心理因素：一项范围综述。
Genes (Basel). 2025 May 22;16(6):614. doi: 10.3390/genes16060614.
5
Personal Health Record Software for Neuroendocrine Tumors: Patient-Centered Design Approach.神经内分泌肿瘤的个人健康记录软件：以患者为中心的设计方法。
JMIR Hum Factors. 2025 Jun 3;12:e68788. doi: 10.2196/68788.
6
Plant molecular farming: a promising frontier for orphan drug production.植物分子农业：孤儿药生产的一个有前景的前沿领域。
Biotechnol Lett. 2025 May 17;47(3):56. doi: 10.1007/s10529-025-03596-2.
7
Nursing's Role in Advancing Care for Rare Genetic Diseases.护理在推进罕见遗传病护理中的作用。
Nurs Clin North Am. 2025 Jun;60(2):349-368. doi: 10.1016/j.cnur.2024.12.005. Epub 2025 Mar 3.
8
Reshaping the hierarchical medical system for rare diseases: a two-tier structure and one-stop referral network.重塑罕见病分级医疗体系：双层结构与一站式转诊网络
J Glob Health. 2025 Apr 11;15:03005. doi: 10.7189/jogh.15.03005.
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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.一项关于未确诊罕见病的全球调查：观点、挑战与解决方案。
Front Public Health. 2025 Feb 26;13:1510818. doi: 10.3389/fpubh.2025.1510818. eCollection 2025.
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Surgical treatment of rare peripheral nerve lesions: long-term outcomes and quality of life.罕见周围神经病变的外科治疗：长期疗效与生活质量
Front Oncol. 2025 Feb 26;14:1476019. doi: 10.3389/fonc.2024.1476019. eCollection 2024.
游离唾液酸贮积症：进展与前景。
Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20.
4
The financial and time burden associated with phenylketonuria treatment in the United States.美国苯丙酮尿症治疗相关的经济和时间负担。
Mol Genet Metab Rep. 2019 Oct 16;21:100523. doi: 10.1016/j.ymgmr.2019.100523. eCollection 2019 Dec.
5
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.未确诊疾病网络：加速健康与疾病的发现。
Am J Hum Genet. 2017 Feb 2;100(2):185-192. doi: 10.1016/j.ajhg.2017.01.006.
6
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.美国国立卫生研究院不明疾病计划：罕见病的研究进展。
Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26.
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The impact of single gene and chromosomal disorders on hospital admissions in an adult population.单基因和染色体疾病对成年人群住院情况的影响。
J Community Genet. 2011 Jun;2(2):81-90. doi: 10.1007/s12687-011-0043-3. Epub 2011 Mar 2.
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