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Home > Research and Activities > Laboratory of Rare Disease Information and Resource Library

Laboratory of Rare Disease Information and Resource Library

1. Key members

Project leader
Manager of the Rare Disease Bank
SAKATE Ryuichi
Specially appointed researcher HIRATA Makoto, TANABE Mao
Technical assistant USAMI Yuko
Office administrator FUJISAWA Emiko

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.

DDrare

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.

Rare Disease Bank (In Japanese)


[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 databases
  • Integrated Search for Databases in NIBIOHN (In Japanese)
  • MBRDB (Medical Bioresource DataBase) (In Japanese)
  • JCRB (Japanese Collection of Research Bioresources) (In Japanese)
Gene Bank
  • 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 @)

Research and Activities

  • List

    NIBIO

    Coordination Office of Research Ethics
    Department of Research and Development
    Center for Rare Disease Research
    Reverse Translational Research Project
    Platform of Therapeutics for Rare Disease
    Laboratory of Rare Disease Information and Resource Library
    Laboratory of Animal Models for Human Diseases
    Center for Vaccine and Adjuvant Research
    Laboratory of Vaccine Materials
    Laboratory of Regulation of intractable Infectious Diseases
    Laboratory of Immunobiologics Evaluation
    Laboratory of Cell Vaccine
    Laboratory of Mockup Vaccine
    Center for Drug Design Research
    Laboratory of Proteomics for Drug Discovery
    Laboratory of Biopharmaceutical Research
    Laboratory of Antibody Design
    Laboratory of XNA Screening and Design
    Laboratory of Medicinal Plant Screening
    Laboratory of Pharmacokinetic Optimization
    Laboratory of Cell Network Regulation
    Laboratory of Bioimaging and Drug Discovery
    Laboratory of Advanced Biopharmaceuticals
    Laboratory of Clinical and Analytical Chemistry
    Artificial Intelligence Center for Health and Biomedical Research
    Laboratory of Bioinformatics
    Laboratory of In silico design
    AI nutrition project
    Laboratory of Toxicogenomics Informatics
    Laboratory of Proteome Research
    Laboratory of Stem Cell Regulation
    Laboratory of Hepatocyte Regulation
    Laboratory of Cell Cultures
    Section of Laboratory Equipment
    Section of Laboratory Animals
    Research Center for Medicinal Plant Resources
    Tsukuba Primate Research Center
    Laboratory of Infectious Diseases and Immunity
    Laboratory of Nuclear Transport Dynamics
    Laboratory of Gut Environmental System
    KAGAMI Project
    Laboratory of Immunosenescence

    NIHN

    Department of Nutritional Epidemiology and Shokuiku
    Section of the National Health and Nutrition Survey
    Section of Shokuiku
    Section of Dietary Guidelines
    Department of Physical Activity Research
    Section of Behavioral Physiology
    Section of Exercise Guideline
    Section of Healthy Longevity Researches
    Department of Clinical Nutrition
    Section of Nutritional Therapy
    Department of Nutrition and Metabolism
    Section of Chrononutrition
    Section of Energy Metabolism
    Department of Food Function and Labeling
    Section of Food Component Analysis
    Section of Food Safety and Function
    Section of Information Network of Health Food
    International Center for Nutrition and Information
    Section of International Nutrition Strategy
    Section of Population Health Metrics
    Section of Global Disaster Nutrition
    AI Nutrition Research team
    Section of Research Collaboration and Partnership

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