The Rare Disease Bank of Japan: establishment, current status and future challenges

Research on rare diseases cannot be performed without appropriate samples from patients with such diseases. Due to the limited number of such patients, securing biosamples of sufficient quality for extensive research is a challenge and represents an important barrier to the advancement of research o...

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Bibliographic Details
Published in:Human cell : official journal of Human Cell Research Society 2018-07, Vol.31 (3), p.183-188
Main Authors: Tada, Mayako, Hirata, Makoto, Sasaki, Mitsuho, Sakate, Ryuichi, Kohara, Arihiro, Takahashi, Ichiro, Kameoka, Yosuke, Masui, Toru, Matsuyama, Akifumi
Format: Article
Language:English
Subjects:
Biological Specimen Banks
Biomedical and Life Sciences
Cell Biology
Deoxyribonucleic acid
DNA
Gynecology
Histocompatibility antigen HLA
HLA Antigens
Humans
Japan
Life Sciences
Medical innovations
Medical research
Oncology
Patients
Quality Control
Rapid Communication
Rare Diseases
Reproductive Medicine
Specimen Handling
Stem Cells
Surgery
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Summary:Research on rare diseases cannot be performed without appropriate samples from patients with such diseases. Due to the limited number of such patients, securing biosamples of sufficient quality for extensive research is a challenge and represents an important barrier to the advancement of research on rare diseases. To tackle this problem, the Rare Disease Bank (RDB) was established in 2009 at the National Institute of Biomedical Innovation (NIBIO; currently, the National Institutes of Biomedical Innovation, Health and Nutrition in Japan). Since then, the RDB has focused on three objectives: (1) emphasizing the importance of collecting biosamples from patients with rare diseases, together with appropriate clinical information, from various medical facilities nationwide; (2) maintaining strict high-quality sample management standards; and (3) sharing biosamples with research scientists across Japan for the advancement of research on rare diseases. As of August 2017, the bank has collected 4147 biosamples from patients with rare diseases, including DNA, serum, plasma, and cell samples from various university hospitals and other medical institutions across the country, and provided various research institutions with 13,686 biosample aliquots from 2850 cases. In addition, the management committee has successfully established a bank system that provides high-quality biosamples together with the results of human leukocyte antigen analysis. It is anticipated that the RDB, through the collection and sharing of biosamples with the medical research community, will enhance the understanding, prevention, and treatment of rare diseases in Japan and the world at large.
ISSN:1749-0774
0914-7470
1749-0774
DOI:10.1007/s13577-018-0204-3