How many rare diseases are there?

被引：218

作者：

Haendel, Melissa ^{[1
]}

Vasilevsky, Nicole ^{[1
]}

Unni, Deepak ^{[2
]}

Bologa, Cristian ^{[3
,4
]}

Harris, Nomi ^{[2
]}

Rehm, Heidi ^{[5
]}

Hamosh, Ada ^{[6
]}

Baynam, Gareth ^{[7
]}

Groza, Tudor ^{[8
]}

McMurry, Julie ^{[9
]}

Dawkins, Hugh ^{[10
]}

Rath, Ana ^{[11
]}

Thaxon, Courtney ^{[12
]}

Bocci, Giovanni ^{[3
,4
]}

Joachimiak, Marcin P. ^{[2
]}

Koehler, Sebastian ^{[13
,14
]}

Robinson, Peter N. ^{[15
]}

Mungall, Chris ^{[2
]}

Oprea, Tudor I. ^{[3
,4
]}

机构：

[1] Oregon Hlth & Sci Univ, Oregon Clin & Translat Sci Inst, Portland, OR 97201 USA

[2] Lawrence Berkeley Natl Lab, Environm Genom & Syst Biol, Berkeley, CA USA

[3] UNM Sch Med, Dept Internal Med, Albuquerque, NM 87106 USA

[4] UNM Sch Med, UNM Comprehens Canc Ctr, Albuquerque, NM 87106 USA

[5] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA

[6] Johns Hopkins Univ, McKusick Nathans Dept Genet Med, Baltimore, MD USA

[7] King Edward Mem Hosp, WA Dept Hlth, Dev Anomalies & Genet Serv Western Australia, Perth, WA, Australia

[8] Pryzm Hlth, Perth, WA, Australia

[9] Oregon State Univ, Coll Publ Hlth & Human Sci, Corvallis, OR 97331 USA

[10] HBF Hlth Ltd, Perth, WA, Australia

[11] INSERM, US14 Orphanet, Paris, France

[12] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA

[13] Charite Univ Med Berlin, Charite Ctr Therapieforsch, Berlin, Germany

[14] Free Univ Berlin, Berlin, Germany

[15] Jackson Lab Genom Med, Farmington, CT USA

来源：

NATURE REVIEWS DRUG DISCOVERY | 2020年 / 19卷 / 02期

关键词：

D O I：

10.1038/d41573-019-00180-y

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

引用

页码：77 / 78

页数：2

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