Laboratory of Rare Disease Biospecimen (Rare Disease Bank)

1. Key members

Project leaderAkfumi Matsuyama
ResearcherRyuichi Sakate
Specially appointed researcherMakoto Hirata
Cooperative researcherMayako Tada

2. Background and objectives

It is important to improve research infrastructures and to plan for research revitalization in order to overcome diseases. To that end, it is essential that we construct a better system where we comprehensively collect and store the valuable biological specimens obtained with patient consent as research resources, and allow those researchers engaged in disease research and drug development research to make broad use of those specimens. The objective of this research is the improvement of the quality of the research resources for diseases, the operation of "Rare Disease Bank" and "Human Tissue Bank" ) that facilitates the distribution of those resources and the provision of rigorously quality-controlled specimens to contribute towards the efficient implementation of research into overcoming diseases.

3. Overview of our research

In order to further promote research into overcoming diseases, we have been operating "Rare Disease Bank". ( * Japan Health Sciences Foundation transferred the business of Health Science Research Resources Bank (HSRRB) to National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN) from 2013.)

♦ Rare Disease Bank (Only in Japan)

Rare Disease Bank

Because the rare intractable diseases have little number of patients, it is difficult to collect specimens to study them. To support the research of rare intractable diseases, we have collected rare intractable disease specimens (DNA, serum, plasma, and cells) and supplied them to researchers. These specimens and information are collected, cooperated by hospitals and research organizations, from Japanese patients under strict ethical guidelines after obtaining informed consent and guaranteeing their anonymity. Specimen storage is conducted under appropriate conditions followed by our standard operation procedures.

4. Sample List

HTLV1-associated myelopathy
Spinal and bulbar muscular atrophy
Idiopathic interstitial pneumonias
Intractable disease
Retinal degeneration
Congenital anomaly
Multiple system atrophy

To inquire about the Rare Disease Bank, please contact:

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