Initiative on Rare and Undiagnosed Disease in Japan

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.

Keywords: IRUD; data sharing; diagnostic and research scheme; international collaboration; novel causative genes/disease entities; whole exome sequencing.