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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
We apologize for any inconvenience this may cause and appreciate your understanding.

We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0180-v1Release info

Latest

Research title

Genetic study and evaluation of small molecule compounds for congenital diseases and metabolic disorders caused by an aberrant RNA splicing

Research overview

Aims
Gene expression analysis of diseases caused by abnormal RNA splicing
Methods
RNA-Seq for a cellular RNA
Participants/materials
Familial Dysautonomia
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000248NGS (RNA-seq)
  • RNA-seq
Controlled-access (Type I)2021-03-12

Data provider

Principal investigator
Masahiko Ajiro
Affiliation
Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine

Research projects

No research projects.

Grants

NameTitleProject number
Program for Promoting Platform of Genomics based Drug Discovery, Japan Agency for Medical Research and Development (AMED)
Development of genetic disease medicine by pharmacogenomics analysis ofspliceswitching compounds
  • JP18kk0305003

Related publications

TitleDOIDataset ID
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
https://doi.org/10.1038/s41467-021-24705-5 (opens in a new tab)

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Michiaki HamadaHamada Laboratory, Faculty of Science and Engineering, Waseda UniversityJapanConstruction of RNA-targeted Drug Discovery Database2023-01-05 – 2027-10-31