Programs Initiative on Rare and Undiagnosed Diseases (IRUD)

IRUD: Integrating Knowledge for Diagnoses

IRUD logo

Japan has a long history of tackling rare and intractable diseases (known locally as Nan-Byo). Building on this heritage, AMED’s IRUD is combining expertise and technology to develop a systematic approach to supporting patients with medically unidentified conditions.

These efforts have led to the construction of a nationwide medical research consortium dedicated to helping these patients receive diagnoses. The network enables primary healthcare clinics to collaborate with more than 400 hospitals including 34 IRUD Clinical Centers, where complex cases can be reviewed by multi-disciplinary IRUD Diagnosis Committees made up of medical specialists and clinical geneticists.

This process is supported by four IRUD Analysis Centers which administer genetic tests, including whole-exome or whole-genome sequencing. Their findings are fed back to the committees in order to support ongoing diagnosis discussions.

The clinical and genetic data gathered in each case is stored in a globally compatible patient-matching system, enabling data to be exchanged, upon consent, with domestic and overseas medical organizations in compliance with existing rules. As a result, similar cases can be compared with a broader pool of patients, increasing the chances of successful diagnoses.

Looking ahead, IRUD will continue to strengthen its nationwide network, placing emphasis on the microattribution of all IRUD collaborators – from local primary care physicians, nurses and paramedics, patients, their family members, and those supporting affected individuals.

In addition, working to fulfil AMED’s foundational role of global harmonization through valuable forums such as the International Rare Diseases Research Consortium (IRDiRC) , IRUD will seek further data-sharing opportunities and ensure patients are given the best chance of receiving a diagnosis.

References & Further Reading

screenshotHelp us advance the mission and maximize impact to the global community, which are highlighted in our open access publication (Eur J Hum Genet 2017, doi: 10.1038/ejhg.2017.106).
References & Further Reading
† Click the image to see the enlarged image.

IRUD Beyond: Expanding Horizons

Just as IRUD’s pioneering efforts get into shape, so too do our next steps. Daringly named “IRUD Beyond,” three AMED-supported activity clusters have been designed to further advance research achieved by IRUD.

  1. Beyond diagnosis: Innovative medical drug candidates will be invented by targeting novel, single pathological mutations discovered in IRUD research.
  2. Beyond genotyping: Innovative technologies will be applied to cases that remain unsolved after next generation sequencing (NGS)-based genome analysis.
  3. Beyond borders: International data sharing will be facilitated even more in such a way that currently inaccessible but medically valuable databases get integrated into globally compatible systems.
IRUD Beyond: Expanding Horizons



Division Name Division of Rare / Intractable Disease Research, Department of Research Promotion Japan Agency for Medical Research and Development (AMED)
E-Mail irud”at” (Please change “at” to @)

Last updated 2017.7.18