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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

hum0444-v1Release info

This page is a past version (v1). The latest version is v2.
Latest version (v2)

Research title

Research to elucidate pathological conditions of skin diseases caused by genetic alterations by multi-omics analysis

Research overview

Aims
In patients diagnosed with a single-gene disease, those considered to have a genetic background or predisposition influencing their disease's pathogenesis, those with diseases believed to involve acquired genetic changes contributing to their development, or those with an undiagnosed disease resembling a genetic predisposition but not matching any known diseases, we analyze both congenital and acquired genetic changes, as well as genetic or expression changes in the diseased tissue, using various multi-omics techniques (whole-exome, whole-genome, targeted-exome, transcriptome, ATAC sequencing, SNP-chip, EPIC array, etc.). The primary objective is to identify the genetic changes contributing to the pathogenesis.
Methods
WGS, WES, long-read WGS, Amplicon-seq, RNA-seq, SNP-chip and methylation array analysis
Participants/materials
8 porokeratosis patients
URL
N/A

Datasets

The list is the one this version published; each dataset's content is shown as it is now.

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000817NGS (WGS)
NGS (Exome)
NGS (Long-read WGS)
NGS (Amplicon-seq)
NGS (RNA-seq)
SNP-chip
Methylation array
  • WGS
  • WES
  • Long-read WGS
Controlled-access (Type I)2024-04-04

Data provider

Principal investigator
Akiharu Kubo
Affiliation
Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine

Research projects

No research projects.

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (B)
Understanding the mechanism of cell competition/clonal expansion and developing new therapies by elucidating the pathomechanism of porokeratosis
  • JP23H02931
KAKENHI Grant-in-Aid for Scientific Research (B)
Understanding cell competition in humans by elucidating the pathomechanism of porokeratosis
  • JP20H03704
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Diagnosis of rare diseases and elucidation of molecular pathological states by using epigenetic information
  • JP22ek0109489
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Innovative detection systems for structural, splicing, and methylation aberrations to improve the diagnostic rate of undiagnosed patients: early diagnosis and preparation for N-of-1 drug development
  • JP23ek0109672
Precursory Research for Innovative Medical care (PRIME), Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)
Elucidating the developing factors and expanding mechanisms of juvenile somatic mosaicism to establish novel therapeutic strategies
  • JP21gm6310026

Related publications

TitleDOIDataset ID
Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
https://doi.org/10.1016/j.ajhg.2024.03.017 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.