Topics Rare Disease Clinicians See More Diagnostic Opportunities through Matchmaker Exchange IRUD Accelerates Global Data Sharing
Topics
The Japan Agency for Medical Research and Development (AMED) announces that one of its flagship programs, the Initiative on Rare and Undiagnosed Diseases (IRUD), became an official connected node within the Matchmaker Exchange (MME) network as of December 2017.
MME has extended its global reach with the participation of IRUD from Japan. With its rare-disease matchmaking service participated by the Asia-Pacific, Europe, and North America, MME accepts from clinicians worldwide submission of an undiagnosed case to query among the connected databases whether there is a match according to the case’s genotypic and phenotypic profile.
AMED believes that IRUD’s participation to MME, offering mutual access beyond national borders, represents an excellent data-sharing practice by potentially addressing rare-disease cases that are otherwise unsolved domestically. Successful case-matching will provide a significant step forward in reaching both a definitive diagnosis—an end to one’s diagnostic odyssey—and a deeper understanding of the disease that has to be treated.
Contact
Contact
Division Name | Division of Rare/Intractable Disease Research, Department of Research Promotion, AMED |
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irud "at" amed.go.jp | |
Remarks |
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Links
- Initiative on Rare and Undiagnosed Diseases (IRUD)
- Rare/Intractable Disease Project of Japan
- Matchmaker Exchange (Official Website)
- The Matchmaker Exchange: A platform for rare disease gene discovery
- The Matchmaker Exchange connects researchers and clinicians to identify novel Mendelian disease genes
07/27/18
Last updated 07/27/18