Laboratory of Rare Disease Information and Resource Library

1. Key members

Project leader	SAKATE Ryuichi
Program officer	SUEMATSU Sachiko
Specially appointed researcher	TANABE Mao
Research coordinator	SHINOMIYA Noriko
Technical assistant	IKKAI Kimiko, YAMAGUCHI Mariko

 

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, their pathogenic mechanisms remain unclear and effective treatments are difficult to develop. In order to overcome rare and intractable diseases, it is important to improve infrastructures and resources, and promote research from basic to applied. In this project, targeting these diseases, we analyze information, such as drug development (clinical trials), drug target genes and pathways, and clinical information on patients (clinical big data). These information are important and useful for researchers in drug development. Additionally, we also operate the "Rare Disease Bank", which collects and provides specimens and information from patients throughout Japan, and promotes various researches on rare and intractable diseases.

3. Overview of our research

 

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

Aiming to promote drug development for rare and intractable 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). Based on the information in DDrare, we are developing an effective method for drug repositioning (making a drug available for use in other diseases). And, in July 2025, we opened new database: "Nanbyo Chiken Web" (in Japanese) in response to patients' needs, to provide information on clinical trials ongoing in Japan. We also analyze clinical big data of hundreds of thousands of patients provided by the national database of designated intractable diseases, etc. We are conducting research to identify more suitable and desirable treatments for rare and intractable diseases.

 

II. 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 on rare and intractable diseases in Japan.

 

 

4. Websites and Databases

Rare and intractable diseases

• DDrare
• Nanbyo Chiken Web (in Japanese)
• Guides for age-specific medical treatment of congenital abnormal 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)

Other

• PRIGEN (Primate Genes, a database of chimpanzee cDNAs)

5. Contact

Laboratory of Rare Disease Information and Resource Library	raredis-office*nibn.go.jp (Replace * by @)