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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)
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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

hum0444-v2Release info

Latest

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, 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients
URL
N/A

Datasets

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
JGAD001073NGS (Exome)
SNP-chip
  • WES
  • genome wide SNPs
Controlled-access (Type I)2026-08-04

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
  • 23H02931
KAKENHI Grant-in-Aid for Scientific Research (B)
Understanding cell competition in humans by elucidating the pathomechanism of porokeratosis
  • 20H03704
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
KAKENHI Grant-in-Aid for Transformative Research Areas (A)
Establishment of a novel disease concept for cell competitive mosaicism in human
  • 24H01406
KAKENHI Grant-in-Aid for Early-Career Scientists
Elucidation of the Pathogenic Mechanism of Porokeratosis Caused by Somatic Second-Hit Mutations
  • 25K19541
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases
  • JP24ek0109760
Takeda Science Foundation
Decoding Clonal Expansion in Mosaic Disorders: Epigenomic Alterations and Cell Competition
N/A
The Uehara Memorial Foundation
Human Cell-Competition Mosaic Disorders: Establishing a New Disease Paradigm and Deciphering Pathogenesis
N/A

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)
Postzygotic NRAS Variants and Subsequent Copy-Neutral Loss of Heterozygosity Underlie Speckled Pattern Formation in Nevus Spilus-Type Congenital Melanocytic Nevus
https://doi.org/10.1016/j.jid.2026.08.007 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.