Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
复制标题
DOI：
10.1111/cts.12500
复制
发表时间：
2018-01
期刊：
影响因子：
--
通讯作者：
International Rare Diseases Research Consortium (IRDiRC)
中科院分区：
文献类型：
--
作者：
Austin CP;Cutillo CM;Lau LPL;Jonker AH;Rath A;Julkowska D;Thomson D;Terry SF;de Montleau B;Ardigò D;Hivert V;Boycott KM;Baynam G;Kaufmann P;Taruscio D;Lochmüller H;Suematsu M;Incerti C;Draghia-Akli R;Norstedt I;Wang L;Dawkins HJS;International Rare Diseases Research Consortium (IRDiRC)
国际罕见病研究联盟（IRDiRC）成立于2011年，它坚信罕见病研究已经到了一个关键时刻。存在的原则证据表明，罕见疾病可以诊断，新的治疗方法成功开发和批准，生活质量和数量的改善。政府研究资助者、公司、科学家和患者倡导团体都证明了他们在促进罕见疾病研究进展方面的承诺和有效性。然而，这项工作在很大程度上是分散的，每个组织、每个国家和每种疾病的倡导者都在寻求独立的、往往是重复的解决办法。“罕见病问题”的规模--数千种罕见病、其中绝大多数没有获得批准的治疗方法，以及许多患者长达数十年的诊断历程--让人们意识到，全球合作的时机已经到来活跃在罕见病研究领域的许多利益相关者，要利用这些原则证据，最大限度地提高世界各地罕见病研究成果的产出。IRDiRC的最初目标是帮助实现两个总体目标：到2020年，为开发200种新疗法和诊断大多数罕见疾病的方法做出贡献。1有关该联盟的历史，治理和新生阶段的更多详细信息，请参阅IRDiRC前6年的相关文章。2由于过去6年来全球罕见病研究活动的显著增长，包括IRDiRC的贡献，该联盟的2020年200种新疗法的目标在2017年初实现-提前3年-诊断目标-到2020年诊断大多数罕见病的能力-是可以实现的;在巴黎举行的第三届国际放射学与核研究委员会会议上，对这些成就进行了庆祝
The International Rare Diseases Research Consortium (IRDiRC) was founded in 2011 with the conviction that rare diseases research had reached a critical juncture. Proof of principle existed that rare diseases could be diagnosed, new treatments successfully developed and approved, and improvements in quality and quantity of life achieved. Government research funders, companies, scientists, and patient advocacy groups had all demonstrated their commitment and effectiveness in contributing to progress in rare diseases research. However, the work was largely atomized, with each organization, each country, and the champions of each disease pursuing independent, often duplicative solutions. The scale of the “rare disease problem”—thousands of rare diseases, the vast preponderance of them with no approved treatment, and decades-long diagnostic odysseys for many patients—led to the realization that the time had arrived for global cooperation and collaboration among the many stakeholders active in rare diseases research, to capitalize on these proofs of principle, and maximize the output of rare diseases research efforts around the world. IRDiRC’s initial aims were to aid in the achievement of two overarching objectives: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. 1 For more detailed information on the history, governance, and nascent stages of the Consortium, please refer to the accompanying piece on the first 6 years of IRDiRC. 2 Due to the remarkable global surge in activity in rare diseases research over the last 6 years, including contributions by IRDiRC, the Consortium’s 2020 goal for 200 new therapies was achieved in early 2017—3 years ahead of schedule—and the goal for diagnostics—the ability to diagnose most rare diseases by 2020—is within reach; these accomplishments were celebrated at the 3rd IRDiRC Conference in Paris
登录
查看更多内容
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：
9.8
作者：
Boycott KM;Rath A;Chong JX;Hartley T;Alkuraya FS;Baynam G;Brookes AJ;Brudno M;Carracedo A;den Dunnen JT;Dyke SOM;Estivill X;Goldblatt J;Gonthier C;Groft SC;Gut I;Hamosh A;Hieter P;Höhn S;Hurles ME;Kaufmann P;Knoppers BM;Krischer JP;Macek M Jr;Matthijs G;Olry A;Parker S;Paschall J;Philippakis AA;Rehm HL;Robinson PN;Sham PC;Stefanov R;Taruscio D;Unni D;Vanstone MR;Zhang F;Brunner H;Bamshad MJ;Lochmüller H
通讯作者：
Lochmüller H
影响因子：
9.7
作者：
Smith, Caren E.;Fullerton, Stephanie M.;Ordovas, Jose M.
通讯作者：
Ordovas, Jose M.
影响因子：
120.1
作者：
Tambuyzer, Erik
通讯作者：
Tambuyzer, Erik
影响因子：
8.8
作者：
Shashi, Vandana;McConkie-Rosell, Allyn;Goldstein, David B.
通讯作者：
Goldstein, David B.