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有多少种罕见病?

How many rare diseases are there?

出版信息

Nat Rev Drug Discov. 2020 Feb;19(2):77-78. doi: 10.1038/d41573-019-00180-y.

DOI:10.1038/d41573-019-00180-y
PMID:32020066
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7771654/
Abstract

A lack of robust knowledge of the number of rare diseases and the number of people affected by them limits the development of approaches to ameliorate the substantial cumulative burden of rare diseases. Here, we call for coordinated efforts to more precisely define rare diseases.

摘要

缺乏对罕见病数量和受影响人数的充分了解,限制了改善罕见病巨大累积负担的方法的发展。在这里,我们呼吁协调努力,以更准确地定义罕见病。

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本文引用的文献

1
Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.罕见病治疗方法:治疗方式、进展及未来挑战。
Nat Rev Drug Discov. 2020 Feb;19(2):93-111. doi: 10.1038/s41573-019-0049-9. Epub 2019 Dec 13.
2
Classification, Ontology, and Precision Medicine.分类、本体论与精准医学。
N Engl J Med. 2018 Oct 11;379(15):1452-1462. doi: 10.1056/NEJMra1615014.
3
Unexplored therapeutic opportunities in the human genome.人类基因组中尚未被探索的治疗机会。
Nat Rev Drug Discov. 2018 May;17(5):317-332. doi: 10.1038/nrd.2018.14. Epub 2018 Mar 23.