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NBDC Research ID:hum0180-v1
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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

Targets: Familial Dysautonomia

Datasets

Dataset ID
Access type
Type of data
Release date
JGAD000248Controlled-access (Type I)NGS (RNA-seq)2021-03-12

Data provider

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

Research projects

Name
URL
No data

Grants

Name
Title
Project 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

Title
DOI
Datasets
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.https://doi.org/10.1038/s41467-021-24705-5

Controlled access users

Principal Investigator
Affiliation
Country/Region
Research title
Period of data use
Data in use (Dataset ID)
Hamada MichiakiWaseda UniversityJapanConstruction of RNA-targeted Drug Discovery Database2023-01-052027-10-31