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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...

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Detalles Bibliográficos
Autores principales: Takahashi, Yuji, Mizusawa, Hidehiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japan Medical Association 2021
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.
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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
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