Addressing challenges in the diagnosis and treatment of rare genetic diseases

被引：31

作者：

Boycott, Kym M. ^{[1
,2
]}

Ardigo, Diego ^{[2
,3
]}

机构：

[1] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON K1H 8L1, Canada

[2] Int Rare Dis Res Consortium, Paris, France

[3] Chiesi Farmaceutici SpA, Corp Drug Dev, Largo Belloli 11-A, I-43122 Parma, Italy

来源：

NATURE REVIEWS DRUG DISCOVERY | 2018年 / 17卷 / 03期

关键词：

D O I：

10.1038/nrd.2017.246

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 [微生物学]; 090105 [作物生产系统与生态工程];

摘要：

The past 5 years have seen an unprecedented rate of discovery of genes that cause rare diseases and with it a commensurate increase in the number of diagnosable but nevertheless untreatable disorders. Here, we discuss the increasing opportunity for diagnosis and therapy of rare diseases and how to tackle the associated challenges.

引用

页码：151 / 152

页数：2

共 5 条

[1]

Austin C. P., 2017, CLIN TRANSL SCI

[2]

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases [J].

Boycott, Kym M. ;

Rath, Ana ;

Chong, Jessica X. ;

Hartley, Taila ;

Alkuraya, Fowzan S. ;

Baynam, Gareth ;

Brookes, Anthony J. ;

Brudno, Michael ;

Carracedo, Angel ;

den Dunnen, Johan T. ;

Dyke, Stephanie O. M. ;

Estivill, Xavier ;

Goldblatt, Jack ;

Gonthier, Catherine ;

Groft, Stephen C. ;

Gut, Ivo ;

Hamosh, Ada ;

Hieter, Philip ;

Hoehn, Sophie ;

Hurles, Matthew E. ;

Kaufmann, Petra ;

Knoppers, Bartha M. ;

Krischer, Jeffrey P. ;

Macek, Milan, Jr. ;

Matthijs, Gert ;

Olry, Annie ;

Parker, Samantha ;

Paschall, Justin ;

Philippakis, Anthony A. ;

Rehm, Heidi L. ;

Robinson, Peter N. ;

Sham, Pak-Chung ;

Stefanov, Rumen ;

Taruscio, Domenica ;

Unni, Divya ;

Vanstone, Megan R. ;

Zhang, Feng ;

Brunner, Han ;

Bamshad, Michael J. ;

Lochmueller, Hanns .

AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (05) :695-705

[3]

Dawkins H. J. S., 2017, CLIN TRANSL SCI

[4]

Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen [J].

Giannuzzi, Viviana ;

Conte, Rosa ;

Landi, Annalisa ;

Ottomano, Serena Antonella ;

Bonifazi, Donato ;

Baiardi, Paola ;

Bonifazi, Fedele ;

Ceci, Adriana .

ORPHANET JOURNAL OF RARE DISEASES, 2017, 12

[5]

Orphan drug development: an economically viable strategy for biopharma R&D [J].

Meekings, Kiran N. ;

Williams, Cory S. M. ;

Arrowsmith, John E. .

DRUG DISCOVERY TODAY, 2012, 17 (13-14) :660-664

← 1 →