From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
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DOI：
10.1186/s13023-018-0936-x
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发表时间：
2018-11-06
影响因子：
3.7
通讯作者：
Austin C
中科院分区：
文献类型：
--
作者：
Kaufmann P;Pariser AR;Austin C
我们现在生活在一个前所未有的机遇时代，可以将科学发现转化为更好的治疗方法，为美国约3000万患有罕见疾病的人提供治疗。尽管有这些科学进步，但超过90%的罕见疾病仍然缺乏有效的治疗方法。新的数据和遗传学技术已经为少数罕见疾病带来了第一个变革性的新疗法。这就要求我们作为一个社会加快进步，以便最终没有疾病和患者在获得安全有效的治疗方法方面落后。本文回顾了国家转化科学推进中心（NCATS）罕见病研究办公室（ORR）旨在促进罕见病研究的举措。这些举措分为两类：促进信息共享;建立多学科多利益攸关方协作。ORR的信息共享计划包括GARD（遗传学和罕见疾病信息中心），RaDaR（罕见疾病登记计划）和NCATS以患者为中心的治疗开发工具包（工具包）。合作倡议包括RDCRN（罕见疾病临床研究网络）和NCATS ORR对会议和研讨会的支持。尽管这些计划取得了成功，但在加强合作、临床协调和互操作性以及利益相关者参与方面仍有大量工作要做，以便最近的科学进步能够使所有等待帮助的罕见疾病患者受益。
We now live in a time of unprecedented opportunities to turn scientific discoveries into better treatments for the estimated 30 million people in the US living with rare diseases. Despite these scientific advances, more than 90% of rare diseases still lack an effective treatment. New data and genetics technologies have resulted in the first transformational new treatments for a handful of rare diseases. This challenges us as a society to accelerate progress so that no disease and no patient is, ultimately, left behind in getting access to safe and effective therapeutics. This article reviews initiatives of the National Center for Advancing Translational Sciences (NCATS) Office of Rare Diseases Research (ORDR) that are aimed at catalyzing rare diseases research. These initiatives fall into two groups: Promoting information sharing; and building multi-disciplinary multi-stakeholder collaborations. Among ORDR’s information sharing initiatives are GARD (The Genetics and Rare Diseases Information Center), RaDaR (The Rare Diseases Registries Program) and the NCATS Toolkit for Patient-Focused Therapy Development (Toolkit). Among the collaboration initiatives are the RDCRN (Rare Diseases Clinical Research Network), and the NCATS ORDR support for conferences and workshops. Despite the success of these programs, there remains substantial work to be done to build enhanced collaborations, clinical harmonization and interoperability, and stakeholder engagement so that the recent scientific advances can benefit all patients on the long list of rare diseases waiting for help.
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DOI：
10.1056/nejmoa1707447
发表时间：
2017-12-28
期刊：
The New England journal of medicine
影响因子：
--
作者：
Neelapu SS;Locke FL;Bartlett NL;Lekakis LJ;Miklos DB;Jacobson CA;Braunschweig I;Oluwole OO;Siddiqi T;Lin Y;Timmerman JM;Stiff PJ;Friedberg JW;Flinn IW;Goy A;Hill BT;Smith MR;Deol A;Farooq U;McSweeney P;Munoz J;Avivi I;Castro JE;Westin JR;Chavez JC;Ghobadi A;Komanduri KV;Levy R;Jacobsen ED;Witzig TE;Reagan P;Bot A;Rossi J;Navale L;Jiang Y;Aycock J;Elias M;Chang D;Wiezorek J;Go WY
通讯作者：
Go WY
影响因子：
14.9
作者：
Köhler S;Vasilevsky NA;Engelstad M;Foster E;McMurry J;Aymé S;Baynam G;Bello SM;Boerkoel CF;Boycott KM;Brudno M;Buske OJ;Chinnery PF;Cipriani V;Connell LE;Dawkins HJ;DeMare LE;Devereau AD;de Vries BB;Firth HV;Freson K;Greene D;Hamosh A;Helbig I;Hum C;Jähn JA;James R;Krause R;F Laulederkind SJ;Lochmüller H;Lyon GJ;Ogishima S;Olry A;Ouwehand WH;Pontikos N;Rath A;Schaefer F;Scott RH;Segal M;Sergouniotis PI;Sever R;Smith CL;Straub V;Thompson R;Turner C;Turro E;Veltman MW;Vulliamy T;Yu J;von Ziegenweidt J;Zankl A;Züchner S;Zemojtel T;Jacobsen JO;Groza T;Smedley D;Mungall CJ;Haendel M;Robinson PN
通讯作者：
Robinson PN
影响因子：
158.5
作者：
Thompson, A. A.;Walters, M. C.;Cavazzana, M.
通讯作者：
Cavazzana, M.
DOI：
10.3233/trd-170016
发表时间：
2017-12-18
期刊：
Translational science of rare diseases
影响因子：
--
作者：
Cheng K;Gupta SK;Kantor S;Kuhl JT;Aceves SS;Bonis PA;Capocelli KE;Carpenter C;Chehade M;Collins MH;Dellon ES;Falk GW;Gopal-Srivastava R;Gonsalves N;Hirano I;King EC;Leung J;Krischer JP;Mukkada VA;Schoepfer A;Spergel JM;Straumann A;Yang GY;Furuta GT;Rothenberg ME
通讯作者：
Rothenberg ME
DOI：
10.1056/nejmoa1407222
发表时间：
2014-10-16
期刊：
The New England journal of medicine
影响因子：
--
作者：
Maude SL;Frey N;Shaw PA;Aplenc R;Barrett DM;Bunin NJ;Chew A;Gonzalez VE;Zheng Z;Lacey SF;Mahnke YD;Melenhorst JJ;Rheingold SR;Shen A;Teachey DT;Levine BL;June CH;Porter DL;Grupp SA
通讯作者：
Grupp SA