A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC)
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DOI：
10.1007/978-3-319-67144-4_20
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发表时间：
2017-01-01
期刊：
影响因子：
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通讯作者：
Groft, Stephen C.
中科院分区：
文献类型：
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作者：
Cutillo, Christine M.;Austin, Christopher P.;Groft, Stephen C.
由于患者的全球分布、每种疾病的复杂性和低患病率以及数据的有限性，罕见疾病给研究人员带来了独特的挑战。它们对患者、他们的家庭、社区和社会来说也是压倒性的和昂贵的。因此，全球罕见病研究的整合对于加速罕见病的理解、诊断和治疗是必要的。国际罕见疾病研究联盟（IRDiRC）就是在需要国际社会协调的情况下诞生的。IRDiRC于2011年启动，旨在促进活跃于罕见病研究的众多利益相关者之间在全球范围内的合作与协作，以促进更好的协调，从而最大限度地提高世界各地罕见病研究工作的产出。成员包括资助者、学术研究人员、公司和患者倡导组织，他们都有着IRDiRC的共同目标和原则。该联盟的总体目标是到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。随着IRDiRC进入第五个年头，这些初步目标已基本实现，来自地球仪的新合作伙伴正在加入。这为该联盟提供了一个令人兴奋的机会，可以为下一阶段设定新的、甚至更雄心勃勃的目标，最终目标是通过更快、更好的诊断能力和新疗法，为世界各地的罕见疾病和病症患者改善健康。
Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their families, communities, and society. As such, global integration of rare diseases research is necessary to accelerate the understanding, diagnosis, and treatment of rare disorders. The International Rare Diseases Research Consortium (IRDiRC) was born out of that need for a coordinated international community. IRDiRC was launched in 2011 to facilitate cooperation and collaboration on a global scale among the many stakeholders active in rare diseases research to stimulate better coordination, and thereby maximize output of rare diseases research efforts around the world. Members include funders, academic researchers, companies, and patient advocacy organizations all of whom share the common goals and principles of IRDiRC. The overarching objectives of the Consortium are to contribute to the development of 200 new therapies and a means to diagnose most rare diseases, by 2020. As IRDiRC approaches the end of its fifth year, these initial objectives have been largely achieved and new partners from across the globe are joining. This presents the Consortium with the exciting opportunity to set new and even more ambitious goals for the next phase with the ultimate goal of improved health through faster and better diagnostic capabilities and novel therapies for people living with rare diseases and conditions throughout the world.