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Initiative on Rare and Undiagnosed Disease in Japan
The Initiative on Rare and Undiagnosed Diseases (IRUD) has established a unified all-Japan diagnostic and research scheme for rare and undiagnosed diseases covering the entire geographic areas and specialty/subspecialty fields. The fundamental IRUD scheme consists of six components: coordinating cen...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Japan Medical Association
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119020/ https://www.ncbi.nlm.nih.gov/pubmed/33997444 http://dx.doi.org/10.31662/jmaj.2021-0003 |
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author | Takahashi, Yuji Mizusawa, Hidehiro |
author_facet | Takahashi, Yuji Mizusawa, Hidehiro |
author_sort | Takahashi, Yuji |
collection | PubMed |
description | The Initiative on Rare and Undiagnosed Diseases (IRUD) has established a unified all-Japan diagnostic and research scheme for rare and undiagnosed diseases covering the entire geographic areas and specialty/subspecialty fields. The fundamental IRUD scheme consists of six components: coordinating center (IRUD-CC), clinical center (IRUD-CL), clinical specialty subgroup (IRUD-CSS), analysis center (IRUD-AC), data center (IRUD-DC), and resource center (IRUD-RC). IRUD has registered many pedigrees with undiagnosed diseases, established their diagnoses with high diagnostic rate, identified novel causative genes and new disease entities, and promoted extensive data sharing and international collaboration. IRUD plays an important role in the national medical support network for rare and intractable diseases together with academic societies and national centers. Promotion of IRUD would be essential in elucidating causes and ultimately providing cures for rare and undiagnosed diseases. |
format | Online Article Text |
id | pubmed-8119020 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Japan Medical Association |
record_format | MEDLINE/PubMed |
spelling | pubmed-81190202021-05-14 Initiative on Rare and Undiagnosed Disease in Japan Takahashi, Yuji Mizusawa, Hidehiro JMA J Review Article The Initiative on Rare and Undiagnosed Diseases (IRUD) has established a unified all-Japan diagnostic and research scheme for rare and undiagnosed diseases covering the entire geographic areas and specialty/subspecialty fields. The fundamental IRUD scheme consists of six components: coordinating center (IRUD-CC), clinical center (IRUD-CL), clinical specialty subgroup (IRUD-CSS), analysis center (IRUD-AC), data center (IRUD-DC), and resource center (IRUD-RC). IRUD has registered many pedigrees with undiagnosed diseases, established their diagnoses with high diagnostic rate, identified novel causative genes and new disease entities, and promoted extensive data sharing and international collaboration. IRUD plays an important role in the national medical support network for rare and intractable diseases together with academic societies and national centers. Promotion of IRUD would be essential in elucidating causes and ultimately providing cures for rare and undiagnosed diseases. Japan Medical Association 2021-04-08 2021-04-15 /pmc/articles/PMC8119020/ /pubmed/33997444 http://dx.doi.org/10.31662/jmaj.2021-0003 Text en Copyright © Japan Medical Association https://creativecommons.org/licenses/by/4.0/JMA Journal is an Open Access journal distributed under the Creative Commons Attribution 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ). |
spellingShingle | Review Article Takahashi, Yuji Mizusawa, Hidehiro Initiative on Rare and Undiagnosed Disease in Japan |
title | Initiative on Rare and Undiagnosed Disease in Japan |
title_full | Initiative on Rare and Undiagnosed Disease in Japan |
title_fullStr | Initiative on Rare and Undiagnosed Disease in Japan |
title_full_unstemmed | Initiative on Rare and Undiagnosed Disease in Japan |
title_short | Initiative on Rare and Undiagnosed Disease in Japan |
title_sort | initiative on rare and undiagnosed disease in japan |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119020/ https://www.ncbi.nlm.nih.gov/pubmed/33997444 http://dx.doi.org/10.31662/jmaj.2021-0003 |
work_keys_str_mv | AT takahashiyuji initiativeonrareandundiagnoseddiseaseinjapan AT mizusawahidehiro initiativeonrareandundiagnoseddiseaseinjapan |