Related Experiment Videos
Initiative on Rare and Undiagnosed Disease in Japan
Yuji Takahashi1, Hidehiro Mizusawa2
1Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Insights
The Initiative on Rare and Undiagnosed Diseases (IRUD) created a national network for diagnosing and researching rare diseases. This scheme has successfully diagnosed many patients, identified new genes, and fostered global collaboration.
Area of Science:
- Genetics
- Rare Diseases
- Medical Research
Background:
- Rare and undiagnosed diseases pose significant diagnostic and research challenges.
- A unified national approach is needed to address these challenges effectively.
Purpose of the Study:
- To describe the structure and function of the Initiative on Rare and Undiagnosed Diseases (IRUD) in Japan.
- To highlight IRUD's achievements in diagnosis, gene discovery, and data sharing for rare diseases.
Main Methods:
- Establishment of a six-component national scheme: coordinating, clinical, clinical specialty subgroup, analysis, data, and resource centers.
- Registration of pedigrees with undiagnosed diseases for comprehensive diagnostic evaluation.
- Promotion of data sharing and international collaboration.
Main Results:
- High diagnostic rates achieved for registered undiagnosed diseases.
- Identification of novel causative genes and new disease entities.
- Facilitation of extensive data sharing and international research collaborations.
Conclusions:
- The IRUD scheme provides a robust framework for rare and undiagnosed disease diagnosis and research in Japan.
- IRUD plays a crucial role in the national medical support network for rare and intractable diseases.
- Continued promotion of IRUD is essential for understanding disease causes and developing cures.
Abstract:
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.