Laboratory of Rare Disease Information and Resource Library
1. Key members
Deputy director of CiDIG Project leader Manager of the Rare Disease Bank |
SAKATE Ryuichi |
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Specially appointed researcher | HIRATA Makoto, TANABE Mao |
Technical assistant | USAMI Yuko |
Office administrator | FUJISAWA Emiko, IKKAI Kimiko |
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. 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 useful for researchers in drug development. 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. 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.
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 for rare and intractable diseases in Japan.
[Websites and Databases]
Rare diseases- Guides for age-specific medical treatment of congenital abnormal diseases (In Japanese)
- iPSS - iPS Support: A project bridging patients to disease-specific iPS cell studies (In Japanese)
- CURE Path: Creatine deficiency Urine test Rare disease Encounter care (In Japanese)
- Kisho Shippei Chiken Web (Clinical trials in rare diseases) (In Japanese)
- Integrated Search for Databases in NIBIOHN (In Japanese)
- MBRDB (Medical Bioresource DataBase) (In Japanese)
- JCRB (Japanese Collection of Research Bioresources) (In Japanese)
- JCRB Gene Bank
- QFbase (Macaca fascicularis cDNA database)
- PRIGEN (Primate Genes, a database of chimpanzee cDNAs)
Laboratory of Rare Disease Information and Resource Library | E-mail: raredis-office*nibiohn.go.jp (replace * by @) |
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