Human Cell

, Volume 31, Issue 3, pp 183–188 | Cite as

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

  • Mayako Tada
  • Makoto Hirata
  • Mitsuho Sasaki
  • Ryuichi Sakate
  • Arihiro Kohara
  • Ichiro Takahashi
  • Yosuke Kameoka
  • Toru Masui
  • Akifumi Matsuyama
Rapid Communication


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.


The Rare Disease Bank Intractable disease Biobank HLA analysis Quality control 



We thank Ms. Akiko Hinomura for supporting to ethics and MTA. The authors also thank to the cooperation of patients, doctors, and medical coordinators. We would like to thank Editage ( for English language editing. This work was funded by a grant from MHLW on Rare/Intractable Disease Project (Grant #243).


This study was funded by MHLW (JP) on Rare/Intractable Disease Project (Grant #243).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

13577_2018_204_MOESM1_ESM.docx (16 kb)
Supplementary material 1 (DOCX 15 kb)
13577_2018_204_MOESM2_ESM.xlsx (123 kb)
Supplementary material 2 (XLSX 123 kb)


  1. 1.
    UK Biobank. Protocol for large-scale prospective epidemiological resource. (March 21, 2007) Accessed 15 Mar 2012.
  2. 2.
    Kuriyama S, Yaegashi N, Nagami F, et al. The Tohoku Medical Megabank Project: design and mission. J Epidemiol. 2016;26:493–511.CrossRefPubMedGoogle Scholar
  3. 3.
    Cho SY, Hong EJ, Nam JM, Han B, Chu C, Park O. Opening of the national biobank of Korea as the infrastructure of future biomedical science in Korea. Osong Public Health Res Perspect. 2012;3:177–84.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Furuta K. A Network of Bioresource Facilities in Japan: the human bioresource consortium technical chapter (Japanese Association for Human Bio-Resource Research). Biopreserv Biobank. 2013;11:57–63. Scholar
  5. 5.
    Kameoka Y. Rare disease biospecimen bank. Bio Ind. 2014;28:14–21.Google Scholar
  6. 6.
    Nakagawa Y, Nakata K. Further health policy for rare/intractable diseases in Japan. J Natl Inst Public Health. 2011;60:89–93.Google Scholar
  7. 7.
    Mizusawa H. Establishment of the JCRB cell bank and quality controls of cell lines (special lectures, papers presented at the 32nd annual meeting). Jpn J Freez Dry. 1986;32:8–13.Google Scholar
  8. 8.
    Uchio-Yamada K, Koura M, Takano K, et al. Research resources bank for laboratory animals at the national institute of biomedical innovation: overview. Exp Anim. 2006;55:209.Google Scholar
  9. 9.
    Yasutomi Y. Establishment of specific pathogen-free macaque colonies in Tsukuba Primate Research Center of Japan for AIDS research. Vaccine. 2010;28:B75–7.CrossRefPubMedGoogle Scholar
  10. 10.
    Kawahara N, Kawano N, Anjiki N, et al. Recent research progress of Research Center for Medicinal Plant Resources, National Institutes of Biomedical Innovation, Health and Nutrition (Part 1) research project on developing of fundamental technology aiming for promotion of domestic cultivation of medicinal plants and study of medicinal plant resources for drug discovery. Pharm Med Dev Regul Sci. 2016;47:630–9.Google Scholar
  11. 11.
    Takeuchi M, Yoshida T, Enozawa S. Public human tissue bank of the human health sciences foundation. Tiss Cult Res Commun. 2004;23:39.Google Scholar
  12. 12.
    Kosaka T. Providing human tissues and cells for biomedical research. Jpn J Clin Pharmacol Ther. 2012;43:89–90.CrossRefGoogle Scholar
  13. 13.
    Kamatani N, Kawamoto M, Kitamura Y, Harigai M, Okumoto T, Sumino Y. Establishment of B-cell lines derived from 996 Japanese individuals. Tiss Cult Res Commun. 2004;23:71–80.Google Scholar
  14. 14.
    Sakamoto Y, Inoue H, Keshavarz P, et al. SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population. J Hum Genet. 2007;52:781–93.CrossRefPubMedGoogle Scholar
  15. 15.
    Naoki Osada N, Hirata M, Tanuma R, et al. Collection of Macaca fascicularis cDNAs derived from bone marrow, kidney, liver, pancreas, spleen, and thymus. BMC Res Notes. 2009;2:199.CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Robinson J, Halliwell JA, Hayhurst JD, Flicek P, Parham P, Marsh SG. The IPD and IMGT/HLA Database: allele variant databases. Nucleic Acids Res. 2015;43:D423–31.CrossRefPubMedGoogle Scholar
  17. 17.
    Lorenzoni PJ, Werneck LC, Crippa ACS, et al. Is there a relationship between narcolepsy, multiple sclerosis and HLA-DQB1*06:02? Arq Neuropsiquiatr. 2017;75:345–8.CrossRefPubMedGoogle Scholar
  18. 18.
    Nakamura Y, Matsushita T, Sato S, et al. Latitude and HLA-DRB1*04:05 independently influence disease severity in Japanese multiple sclerosis: a cross-sectional study. J Neuroinflammation. 2016;13:239.CrossRefPubMedPubMedCentralGoogle Scholar
  19. 19.
    Park IH, Arora N, Huo H, et al. Disease-specific induced pluripotent stem cells. Cell. 2008;134:877–86.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Rottem S. Interaction of mycoplasmas with host cells. Physiol Rev. 2003;83:417–32.CrossRefPubMedGoogle Scholar
  21. 21.
    Drexler HG, Uphoff CC. Mycoplasma contamination of cell cultures: incidence, sources, effects, detection, elimination, prevention. Cytotechnology. 2002;39:75–90.CrossRefPubMedPubMedCentralGoogle Scholar
  22. 22.
    Kohara A, Ohtani A, Ozawa Y, Shioda S, Masui T, Mizusawa H. Report of Mycoplasma contamination in Japan. Tiss Cult Res Commun. 2007;26:159–63.Google Scholar
  23. 23.
    Masayoshi T. Outline of revised ethical guidelines for human genome/gene analysis research in Japan. Organ Biol. 2014;21:9–15.Google Scholar
  24. 24.
    Jeffery KJ, Usuku K, Hall SE, et al. HLA alleles determine human T-lymphotropic virus-I (HTLV-I) proviral load and the risk of HTLV-I-associated myelopathy. Proc Natl Acad Sci USA. 1999;96:3848–53.CrossRefPubMedPubMedCentralGoogle Scholar
  25. 25.
    Yamano Y, Sato T. Pathophysiology, treatment and biomarkers for HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Nihon Rinsho. 2013;71:870–5.PubMedGoogle Scholar
  26. 26.
    Mizusawa H, Kawase M, Sasaki K, Harnois M, Ishidate M. Quality control of cell lines in the JCRB-cell bank. Tanpakushitsu Kakusan Koso. 1986;31:1470–80.PubMedGoogle Scholar
  27. 27.
    Tada Mayako, Hirata Makoto, Okura Hanayuki, Yoshida Satoru, Matsuyama Akifumi. Trends of intractable disease research using biosamples. J Trans Sci. 2017;3:1–5.CrossRefGoogle Scholar
  28. 28.
    Hosomichi K, Shiina T, Tajima A, Inoue I. The impact of next-generation sequencing technologies on HLA research. J Hum Gene. 2015;60:665–73.CrossRefGoogle Scholar

Copyright information

© Japan Human Cell Society and Springer Japan KK, part of Springer Nature 2018

Authors and Affiliations

  • Mayako Tada
    • 1
  • Makoto Hirata
    • 1
  • Mitsuho Sasaki
    • 2
  • Ryuichi Sakate
    • 1
  • Arihiro Kohara
    • 3
  • Ichiro Takahashi
    • 1
    • 4
  • Yosuke Kameoka
    • 1
    • 5
  • Toru Masui
    • 1
    • 6
  • Akifumi Matsuyama
    • 1
  1. 1.Laboratory of Rare Disease Biospecimen, Center for Rare Disease ResearchNational Institutes of Biomedical Innovation, Health and NutritionIbarakiJapan
  2. 2.Laboratory of Animal Models for Human Diseases, Center for Rare Disease ResearchNational Institutes of Biomedical Innovation, Health and NutritionIbarakiJapan
  3. 3.Laboratory of Cell CulturesNational Institutes of Biomedical Innovation, Health and NutritionIbarakiJapan
  4. 4.Tsukuba Primate Research CenterNational Institutes of Biomedical Innovation, Health and NutritionTsukuba-shiJapan
  5. 5.A-CLIP InstituteChibaJapan
  6. 6.National Center for Medical GeneticsKeio University School of MedicineTokyoJapan

Personalised recommendations