1. Key members

Deputy director of CiDIG Project leader	SAKATE Ryuichi
Specially appointed researcher	YAMASAKI Chisato, TANABE Mao
Program officer	SUEMATSU Sachiko
Research coordinator	INUI Wakako, SHINOMIYA Noriko
Technical assistant	SADAFUJI Tomomi, NISHIGUCHI Yasuko, MIKI Keiko, YONETOMI Satsuki, IKKAI Kimiko, YAMAGUCHI Mariko, KAWAGUCHI Kyoko
Office administrator	MAKITA Masako, KONDA Hiromi. KONDO Kanae, MIZUNAGA Mari, YOSHIOKA Maki, NAKASHIMA Aya, MORITA Haruka, OISHI Kana, OKADA Keiko

2. Background and objectives

Most of the intractable diseases designated by the Ministry of Health, Labour and Welfare（MHLW）, Japan ("Nanbyo" in Japanese) are also called rare diseases. Since the numbers of patients with these diseases are small, drug development is not progressing easily. In order to overcome rare and intractable diseases, it is important to improve infrastructures and promote research from basic to applied. In this project, we operate the National Database of Designated Intractable Diseases of Japan to support for utilization of patients' clinical data for researches. Targeting these diseases, we also analyze information, such as drug development (clinical trials), drug target genes and pathways, and clinical information on patients (clinical big data). These information are useful for researchers in drug development. Additionally, we also operate the "Rare Disease Bank", which collects specimens and accompanying information from patients throughout Japan, and promotes their effective utilization in various researches in rare and intractable diseases.

3. Overview of our research

I. The National Database of Designated Intractable Diseases of Japan

As of April 2024, there are 341 designated intractable diseases according to MHLW, with approximately one million patients receiving medical expenses assistance annually across all diseases. The clinical research forms, created and submitted during applications for medical expense subsidies, are utilized with patient consent to advance rare and intractable disease research. Commissioned by MHLW, we operate registration, analysis, and provision of the National Database of Designated Intractable Diseases of Japan, as the Disease Registration Center. Through the registration and provision of comprehensive clinical data of rare and intractable disease patients, unprecedented support is provided for research and development for the diseases.

II. Information analyses of drug development in rare and intractable diseases

Effective treatments for rare and intractable diseases are difficult to develop, since their pathogenic mechanisms remain unclear. Aiming to promote drug development for these diseases, we conduct inter-disease information analyses. By analyzing clinical trial data worldwide, we integrate information of diseases, drugs, and drug target genes/pathways, and construct a database "DDrare" (Database of Drug development for Rare Diseases) to provide the information. Based on the information in DDrare, we are developing an effective method for drug repositioning (making a drug available for use in other diseases). We also analyze clinical big data of hundreds of thousands of patients provided by the national database of patients with the designated intractable diseases, and by the research group registries in Japan. We are conducting research to stratify (group) patients and identify more suitable treatments for individual patients.

III. Rare Disease Bank

For many rare and intractable diseases, it is difficult to collect specimens and information because of the small number of patients. The Rare Disease Bank, a biobank specializing in rare and intractable diseases, was established in 2009 as part of the "Research Project on Overcoming Intractable Diseases" implemented by the Ministry of Health, Labour and Welfare (MHLW), Japan. Although our institute does not have a hospital, we have been collecting patient specimens and information as a hub organization in collaboration with about 50 medical institutions nationwide. In the operation, we follow the ethical guidelines set by the government, handle specimens in accordance with standard operating procedures (SOPs), and manage information under strict security. Through the distribution from the Rare Disease Bank, valuable specimens and information of patients are widely utilized in researches for rare and intractable diseases in Japan.

[Websites and Databases]

Rare and intractable diseases

• DDrare
• Guides for age-specific medical treatment of congenital abnormal diseases (In Japanese)
• Kisho Shippei Chiken Web (Clinical trials in rare diseases) (In Japanese)

Integrated databases

• Integrated Search for Databases in NIBIOHN (In Japanese)
• MBRDB (Medical Bioresource DataBase) (In Japanese)

Gene Bank (Archive)

• JCRB Gene Bank
• QFbase (Macaca fascicularis cDNA database)
• PRIGEN (Primate Genes, a database of chimpanzee cDNAs)

Laboratory of Rare Disease Information and Resource Library	intractable-disease*nibiohn.go.jp（I） raredis-office*nibiohn.go.jp（II, III） (Replace * by @)