Japan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.
Japan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.
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DOI：
10.1038/ejhg.2017.106
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发表时间：
2017-09
期刊：
影响因子：
--
通讯作者：
Suematsu M
中科院分区：
文献类型：
--
作者：
Adachi T;Kawamura K;Furusawa Y;Nishizaki Y;Imanishi N;Umehara S;Izumi K;Suematsu M
日本一直面临着与特殊定义的罕见疾病有关的挑战，日语中称为Nan-Byo（字面意思是“困难”+“疾病”），自1972年以来已经采取了措施。政府的这种支持确实使南表病患者受益;然而，患有医学上无法确定的疾病的人不属于这一计划，因此仍然难以获得检查、诊断和治疗。为了识别这种罕见且经常未被诊断的疾病，我们必须将医学专家的系统诊断与表型和遗传数据匹配相结合。因此，在Nan-Byo研究人员和日本全民医疗保健系统的合作下，日本医学研究与开发机构于2015年启动了罕见和未诊断疾病计划（IRUD）。IRUD是一项雄心勃勃的挑战，旨在构建一个全面的医疗网络和一个国际兼容的数据共享框架。通过与现有的下一代测序能力和其他基础设施的协同作用，这个全国性的医学研究联盟已经成功地发展到2016年12月接受了2000多名未确诊的注册者。我们的目标还在于在整个倡议中扩大微归因的概念;即，适当的信贷作为合作者应给予当地初级保健医生，护士和护理人员，病人，他们的家庭成员，以及那些支持受影响的个人在适当的时候。由于IRUD在类似的全球努力中面临许多挑战，因此它未来的成功和吸取的经验教训将为正在进行的国际努力做出重大贡献，让基础研究、应用研究和社会实施的参与者参与其中。
Japan has been facing challenges relating to specifically defined rare diseases, called Nan-Byo in Japanese (literally ‘difficult’+‘illness’), and has already taken measures for them since 1972. This governmental support has surely benefited Nan-Byo patients; however, those suffering from medically unidentified conditions do not fall into this scheme and thus still confront difficulty in obtaining an examination, a diagnosis, and a treatment. To identify such rare and often undiagnosed diseases, we must integrate systematic diagnosis by medical experts with phenotypic and genetic data matching. Thus, in collaboration with Nan-Byo researchers and the Japanese universal healthcare system, the Japan Agency for Medical Research and Development launched the Initiative on Rare and Undiagnosed Diseases (IRUD) in 2015. IRUD is an ambitious challenge to construct a comprehensive medical network and an internationally compatible data-sharing framework. Synergizing with existing next-generation sequencing capabilities and other infrastructure, the nationwide medical research consortium has successfully grown to accept more than 2000 undiagnosed registrants by December 2016. We also aim at expanding the concept of microattribution throughout the initiative; that is, proper credit as collaborators shall be given to local primary care physicians, nurses and paramedics, patients, their family members, and those supporting the affected individuals whenever appropriate. As it shares many challenges among similar global efforts, IRUD’s future successes and lessons learned will significantly contribute to ongoing international endeavors, involving players in basic research, applied research, and societal implementation.
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影响因子：
11.2
作者：
Higuchi, Yujiro;Hashiguchi, Akihiro;Yuan, Junhui;Yoshimura, Akiko;Mitsui, Jun;Ishiura, Hiroyuki;Tanaka, Masaki;Ishihara, Satoshi;Tanabe, Hajime;Nozuma, Satoshi;Okamoto, Yuji;Matsuura, Eiji;Ohkubo, Ryuichi;Inamizu, Saeko;Shiraishi, Wataru;Yamasaki, Ryo;Ohyagi, Yasumasa;Kira, Jun-ichi;Oya, Yasushi;Yabe, Hayato;Nishikawa, Noriko;Tobisawa, Shinsuke;Matsuda, Nozomu;Masuda, Masayuki;Kugimoto, Chiharu;Fukushima, Kazuhiro;Yano, Satoshi;Yoshimura, Jun;Doi, Koichiro;Nakagawa, Masanori;Morishita, Shinichi;Tsuji, Shoji;Takashima, Hiroshi
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Takashima, Hiroshi
影响因子：
4.7
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影响因子：
9.8
作者：
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通讯作者：
Boycott, Kym M.
影响因子：
3.5
作者：
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影响因子：
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作者：
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通讯作者：
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