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.