International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

被引：268

作者：

Boycott, Kym M. ^{[1
]}

Rath, Ana ^{[2
]}

Chong, Jessica X. ^{[3
]}

Hartley, Taila ^{[1
]}

Alkuraya, Fowzan S. ^{[4
,5
]}

Baynam, Gareth ^{[6
]}

Brookes, Anthony J. ^{[7
]}

Brudno, Michael ^{[8
]}

Carracedo, Angel ^{[9
]}

den Dunnen, Johan T. ^{[10
]}

Dyke, Stephanie O. M. ^{[11
]}

Estivill, Xavier ^{[12
,13
]}

Goldblatt, Jack ^{[6
]}

Gonthier, Catherine ^{[2
]}

Groft, Stephen C. ^{[14
]}

Gut, Ivo ^{[15
]}

Hamosh, Ada ^{[16
]}

Hieter, Philip ^{[17
]}

Hoehn, Sophie ^{[2
]}

Hurles, Matthew E. ^{[18
]}

Kaufmann, Petra ^{[19
]}

Knoppers, Bartha M. ^{[11
]}

Krischer, Jeffrey P. ^{[20
]}

Macek, Milan, Jr. ^{[21
,22
]}

Matthijs, Gert ^{[23
]}

Olry, Annie ^{[2
]}

Parker, Samantha ^{[24
]}

Paschall, Justin ^{[18
]}

Philippakis, Anthony A. ^{[25
]}

Rehm, Heidi L. ^{[25
]}

Robinson, Peter N. ^{[26
,27
]}

Sham, Pak-Chung ^{[28
]}

Stefanov, Rumen ^{[29
]}

Taruscio, Domenica ^{[30
]}

Unni, Divya ^{[2
]}

Vanstone, Megan R. ^{[1
]}

Zhang, Feng ^{[31
,32
]}

Brunner, Han ^{[33
,34
]}

Bamshad, Michael J. ^{[3
,35
]}

Lochmueller, Hanns ^{[36
]}

机构：

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

[2] Inst Natl Sante Rech Med US14, Orphanet, F-75014 Paris, France

[3] Univ Washington, Dept Pediat, Seattle, WA 98195 USA

[4] King Faisal Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[5] King Abdulaziz City Sci & Technol, Saudi Human Genome Program, Riyadh 11442, Saudi Arabia

[6] Genet Serv Western Australia, Perth, WA 6008, Australia

[7] Univ Leicester, Dept Genet, Leicester LE1 7RH, Leics, England

[8] Univ Toronto, Dept Comp Sci, Toronto M5S IA1, ON, Canada

[9] Galician Fdn Genom Med & Univ Santiago Compostela, Genom Med Grp, Santiago De Compostela 15782, Spain

[10] Leiden Univ, Med Ctr, Dept Human Genet & Clin Genet, Albinusdreef 2, NL-2333 ZA Leiden, Netherlands

[11] McGill Univ, Fac Med, Ctr Genom & Policy, Dept Human Genet, Montreal, PQ H3A 1A4, Canada

[12] Sidra Med & Res Ctr, Expt Div, POB 26999, Doha, Qatar

[13] Dexeus Womans Hlth, Genet Unit, Barcelona 08028, Spain

[14] NIH, Natl Ctr Adv Translat Sci, Bethesda, MD 20892 USA

[15] Univ Pompeu Fabra, Univ Pompeu Fabra, Ctr Nacl Anal Genom, Ctr Genom Regulat, Barcelona 08028, Spain

[16] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21286 USA

[17] Univ British Columbia, Dept Med Genet, Michael Smith Labs, Vancouver, BC V6T IZ4, Canada

[18] Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton CB10 1SA, England

[19] NIH, Natl Ctr Adv Translat Sci, Off Rare Dis Res, Bethesda, MD 20892 USA

[20] Univ S Florida, Hlth Informat Inst, Tampa, FL 33620 USA

[21] Charles Univ Prague, Fac Med 2, Dept Biol & Med Genet, Prague 15006, Czech Republic

[22] Univ Hosp Motol, Prague 15006, Czech Republic

[23] Univ Leuven, Ctr Human Genet, B-3000 Leuven, Belgium

[24] Lysogene, F-92200 Neuilly Sur Seine, France

[25] Broad Inst & Harvard, Cambridge, MA 02142 USA

[26] Charite Univ Med Berlin, Inst Med Genet & Humangenet, D-13353 Berlin, Germany

[27] Jackson Lab Genom Med, Farmington, CT 06032 USA

[28] Univ Hong Kong, Ctr Genom Sci, Hong Kong, Hong Kong, Peoples R China

[29] Med Univ Plovdiv, Fac Publ Hlth, Dept Social Med & Publ Hlth, Plovdiv 4002, Bulgaria

[30] Ist Super Sanita, Natl Ctr Rare Dis, I-29900161 Rome, Italy

[31] WuXi AppTec, Waigaoqiao Free Trade Zone, Shanghai 200131, Peoples R China

[32] WuXi NextCODE, Cambridge, MA 02142 USA

[33] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

[34] Maastricht Univ, Med Ctr, Dept Clin Genet, NL-6229 GT Maastricht, Netherlands

[35] Seattle Childrens Hosp, Div Med Genet, Seattle, WA 98105 USA

[36] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2017年 / 100卷 / 05期

基金：

英国惠康基金; 加拿大健康研究院; 英国医学研究理事会;

关键词：

HUMAN PHENOTYPE ONTOLOGY; INTELLECTUAL DISABILITY; MATCHMAKER EXCHANGE; IDENTIFICATION; DATABASES; NETWORK; COLLABORATION; INHERITANCE; CHALLENGES; REGISTRIES;

D O I：

10.1016/j.ajhg.2017.04.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey,'' improves disease management, and fosters genetic counseling with respect to recurrence risks while assuring reproductive choices. In a general clinical genetics setting, the current diagnostic rate is approximately 50%, but for those who do not receive a molecular diagnosis after the initial genetics evaluation, that rate is much lower. Diagnostic success for these more challenging affected individuals depends to a large extent on progress in the discovery of genes associated with, and mechanisms underlying, rare diseases. Thus, continued research is required for moving toward a more complete catalog of disease-related genes and variants. The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to bring together researchers and organizations invested in rare disease research to develop a means of achieving molecular diagnosis for all rare diseases. Here, we review the current and future bottlenecks to gene discovery and suggest strategies for enabling progress in this regard. Each successful discovery will define potential diagnostic, preventive, and therapeutic opportunities for the corresponding rare disease, enabling precision medicine for this patient population.

引用

页码：695 / 705

页数：11

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