Thank you for joining us in the Japan Agency for Medical Research and Development (AMED) Practical Research Project for Rare/Intractable Diseases activities and outcomes conference.

The theme of this conference is “Getting to Know and Aiming to Cure Intractable Diseases.”

AMED was established in fiscal 2015. Having entered our eleventh year, we play a central role in supporting and fostering the necessary environment for research and development (R&D) in the medical field toward fulfilling our mission of “bringing research outcomes in the medical field to practical application and delivering them to patients and their families as quickly as possible.” Under the Third Medium- to Long-Term Plan that began in fiscal 2025, we are promoting R&D through eight integrated projects (PJ1?8) revolving around drug discovery and therapeutic approaches.

This activities and outcomes conference highlights the Practical Research Project for Rare/Intractable Diseases, an interdisciplinary undertaking across three projects?Innovative Drug Discovery and Development (PJ1), Regenerative Medicine and Cell and Gene Therapies (PJ3), and Data Utilization and Life Course Research and Development (PJ5)?with the aim of overcoming rare and intractable diseases in Japan. The project provides seamless support from basic to practical research, serving as a champion of practical application in the field of intractable diseases.

The conference this time seeks to report to patients and their families as well as members of the public the activities and outcomes of R&D carried out from 2024 to the first half of 2025, and to enable information sharing between diverse specialist researchers to promote further research. As with last year, the contents of the conference will be available for on demand streaming for a duration of about five months, and question forms will be provided to facilitate two-way information sharing between the researchers and participants. In addition, the feature “Message from the researcher” will introduce the researchers’ goals in delivering the outcomes of their work, offering deeper insight into the significance of R&D.

On November 8, the day of the conference, a live event will be organized inviting guests with a close association with intractable diseases. Diverse presentations by patients and their families, as well as a journalist, and outcomes reports by researchers will be available for live streaming so that the overview of the program and the progress and outcomes of the individual R&D projects may be disseminated to the widest audience possible.

Researchers throughout Japan are working day in and day out for the development of diagnoses and treatments for rare and intractable diseases. Research of this kind requires the ever greater understanding and support of not only patients and their families but also society as a whole. We look forward to welcoming many participants and to seeing this activities and outcomes conference be the first step toward fresh awareness and hope.

Thank you for your ongoing support for the AMED Practical Research Project for Rare/Intractable Diseases.

August 2025

I am Kusunoki Susumu, and I serve as Program Supervisor for the AMED Practical Research Project for Rare/Intractable Diseases (hereinafter, this project).

In Japan, the national government promotes measures to address rare and intractable diseases that meet four criteria: rarity, unknown etiology, lack of effective treatment, and source of long-term difficulty in daily living. With the enforcement in 2015 of the Act on Medical Care for Patients with Intractable Diseases (Act No. 50 of 2014), 110 conditions were recognized as designated intractable diseases for which patients are eligible for coverage by a dedicated medical expenses assistance system; the number of recognized conditions has increased to 348 in 2025. To overcome these intractable diseases, treatments must be developed, and to this end, it is crucial to promote the research and development (R&D) of generic technologies, the establishment of research infrastructures, and the R&D of medicine and medical equipment.

This project aims to overcome rare and intractable diseases by promoting everything from the collection of evidence to the elucidation of causes and conditions, and the development of groundbreaking methods of diagnosis, treatment, and prevention. As a champion of practical application, this project takes on the role of providing seamless support up to actual treatment by promoting R&D across three of AMED’s eight integrated projects?Innovative Drug Discovery and Development, Regenerative Medicine and Cell and Gene Therapies, and Data Utilization and Life Course Research and Development?in collaboration with the Ministry of Health, Labour and Welfare (MHLW) and the research teams in its policy research program for intractable diseases.

And we are seeing stable results. Up to fiscal 2024, for instance, pharmaceutical approval was granted to 14 R&D projects supported by this project. This conference is organized to report on the activities and outcomes of R&D carried out up to fiscal 2024 and the activities undertaken in the first half of 2025, but we would be happy if it also provided a forum for information exchange between researchers and company representatives, and contributed to the development of further research. We hope also that the opportunity to communicate with patients and their families will help deepen their understanding about this project and the individual R&D projects.

We will continue to devote our energies to providing seamless support from basic to practical medical R&D so that the research outcomes may be delivered to patients and their families as quickly as possible. Thank you for your ongoing understanding and support for the Practical Research Project for Rare/Intractable Diseases.