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

研究成果: Article査読

5 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)183-188
ページ数6
ジャーナルHuman Cell
31
3
DOI
出版ステータスPublished - 01-07-2018
外部発表はい

All Science Journal Classification (ASJC) codes

  • 細胞生物学
  • 癌研究

フィンガープリント

「The Rare Disease Bank of Japan: establishment, current status and future challenges」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル