Japan has a long history of tackling to so call “Nan-byo” (intractable diseases) mostly led by Ministry of Health, Labor and Welfare. IRUD (Japan’s Initiative on Rare and Undiagnosed Diseases) was started with the support of AMED and numerous disease (candidate) genes were identified with the aid of NGS. To utilize and extend the achievements of IRUD research, IRUD Beyond projects were launched at November of 2017 aiming to achieve below subjects.

• Beyond diagnosis: Innovative medical drug candidates will be invented by targeting novel, single pathological mutations discovered in IRUD research.
• Beyond genotyping: Innovative technologies will be applied to cases that remain unsolved after next generation sequencing (NGS)― based genome analysis.
• 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.

Model organisms approach is effective to resolve these problems. Indeed, we have witnessed how the Canadian RDMM (Network) has so effectively addressed this problem by connecting the clinical and model organism researchers’ communities and providing catalyst grants to support collaborative functional characterization research. Accordingly, our model organism project as Japanese RDMM, is aiming to identify biological mechanisms of rare diseases under tight interaction between IRUD researchers and model organism researchers. We are strongly hoping that our new challenge will end up with fruitful success.