How the research group was established
In April 2015, the Japan Agency for Medical Research and Development (AMED, former President Makoto Suematsu) was established as a command center for research and development in the field of medicine in Japan. This initiative was based on the “Strategy for the Revitalization of Japan” (Cabinet decision on June 14, 2013). Since 2015, AMED has been working on the “Initiatives on Rare and Undiagnosed Diseases” (IRUD), a research project with the aim of providing comprehensive diagnoses for undiagnosed diseases. The purpose of IRUD was to perform genetic analyses, for both children and adults, who remain undiagnosed using the latest comprehensive genetic analysis technology. Through this project, a new human disease (Takenouchi-Kosaki syndrome [OMIM #616737]) caused by a mutation in the CDC42 gene was discovered among patients with previously unknown diagnoses.
AMED has established the Initiatives on Rare and Undiagnosed Disease Beyond (IRUD Beyond) project as a new research area with the aim of further developing the results of the IRUD research project. As one of the research projects aimed at curing diseases identified through IRUD, we are helping to promote research into the treatment of these diseases. Therefore, we organized a research team and received a grant from AMED.