Laboratory of Rare Disease Resource Library
1. Key members
|Director of Center for Rare Disease Research
Manager of the Rare Disease Bank
|Specially appointed researcher||Makoto Hirata|
|Technical assistant||Naho Okumura|
2. Background and objectives
In order to overcome intractable diseases, many of which are also categorized as rare diseases, infrastructures to facilitate research is fundamental. To that end, we operate the "Rare Disease Bank" trying to construct a suitable framework to collect and store valuable specimens and information from various rare disease patients, and make them available to researchers for drug development all over Japan. Also, we perform integration analysis of diseases, drugs and genes/pathways and construct a database ("DDrare"), facilitating drug development in rare diseases.
3. Overview of our research
I. Rare Disease Bank
The number of patients affected with rare diseases is so limited that it is difficult to collect their specimens and information. The Rare Disease Bank 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. Since then we have collected and provided specimens (DNA, serum, plasma, cells, etc.) and accompanying information (diagnostic disease name, age, sex, and detailed information for some diseases) from patients, in collaboration with approximately 50 medical institutions nationwide. We collect specimens from patients under strict ethical guidelines by the regulatory authorities after obtaining informed consent and guaranteeing their anonymity. Specimen and information management are conducted under appropriate conditions and security followed by the standard operating procedures (SOPs).
II. Integrated analysis of drug development in rare diseases
The pathogenic mechanisms of most rare diseases are yet to be known and their diagnoses are vague. Hoping to contribute to drug development in rare diseases, we have conducted information analysis across rare diseases in collaboration with the Office of Pharmaceutical Industry Research (OPIR) of the Japan Pharmaceutical Manufacturers Association (JPMA), since 2016. Analyzing the trend of drug development in clinical trial data (ClinicalTrials.gov, etc.), we integrate information on diseases, drugs and drug target genes/pathways. By comparing drugs and their target genes among rare diseases, we explore useful information on pathogenic mechanisms, drug repositioning and so on. We also construct a database named "DDrare" (Database of Drug development for Rare Diseases) to provide the integrated information.
[Websites and Databases]Rare diseases Integrated databases Gene Bank
|Laboratory of Rare Disease Resource Library||E-mail: raredis-office[at]nibiohn.go.jp|