{"id":"hum0444","version":2,"url":"https://humandbs.dbcls.jp/research/hum0444/v2","datePublished":"2026-08-04","versions":[{"version":1,"datePublished":"2024-04-03"},{"version":2,"datePublished":"2026-08-04"}],"title":{"ja":"遺伝学的変化を要因とする皮膚疾患のマルチオミックス解析による病態解明の研究","en":"Research to elucidate pathological conditions of skin diseases caused by genetic alterations by multi-omics analysis"},"summary":{"aims":{"ja":"皮膚に何らかの症状を現す疾患（単一遺伝子病、遺伝的背景・素因が発症に関与する可能性があると科学的に考えられる疾患、後天性に生じた遺伝学的変化が発症に関与する可能性があると科学的に考えられる疾患、遺伝学的素因が類推されるが既知の疾患に合致しない未診断疾患）を発症した患者における、先天的もしくは病変部組織において後天的に生じた遺伝学的変化や発現変化について、様々なマルチオミックス解析技術（全エクソーム解析、全ゲノム解析、ターゲットエクソーム解析、トランスクリプトーム解析、SNP-chip解析、EPICアレイ解析、ATACシーケンシング解析、シングルセル解析、質量分析解析・プロテオミクス解析、リピドミクス解析、エクソソーム解析など）を用いて網羅的に探索することで、発症要因となった遺伝学的変化を同定すること。","en":"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":{"ja":"WGS、WES、ロングリードWGS、Amplicon-seq、RNA-seq、SNP-chip、メチル化アレイ","en":"WGS, WES, long-read WGS, Amplicon-seq, RNA-seq, SNP-chip and methylation array analysis"},"targets":{"ja":"汗孔角化症 8症例、nevus spilus-type congenital melanocytic nevus（NS-CMN） 3症例","en":"8 porokeratosis patients, 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\nメチル化","en":"Sequencing\nExpression profiling\nMethylation profiling"},"targets":{"ja":"汗孔角化症：8症例\nNevus spilus-type congenital melanocytic nevus（NS-CMN）：3症例\n（日本人）","en":"8 porokeratosis patients\n3 Nevus spilus-type congenital melanocytic nevus (NS-CMN) patients\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、Exome、ロングリードWGS、Amplicon-seq、RNA-seq）\nSNPアレイ\nメチル化アレイ","en":"NGS\n(WGS, Exome, Long-read WGS, Amplicon-seq, RNA-seq)\nSNP array\nMethylation array"}},"releaseNote":{"ja":"Nevus spilus-type congenital melanocytic nevus（NS-CMN）3症例の皮膚、培養細胞および末梢血より抽出したDNAを用いたWESおよびSNP-chip解析データをfastqおよびidatファイルにて提供する。","en":"DNAs were extracted from skin, cultured cells, and peripheral blood cells from 3 nevus spilus-type congenital melanocytic nevus (NS-CMN) patients. WES and SNP-chip analyses were performed. Fastq and idat files are provided."},"dataProviders":[{"name":{"ja":"久保 亮治","en":"Akiharu Kubo"},"organization":{"name":{"ja":"神戸大学大学院医学研究科 内科系講座皮膚科学教室","en":"Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"汗孔角化症の病態解明を通じた細胞競合/クローン拡大機構の理解と新規治療法開発","en":"Understanding the mechanism of cell competition/clonal expansion and developing new therapies by elucidating the pathomechanism of porokeratosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["23H02931"]},{"title":{"ja":"汗孔角化症の病態メカニズム解明を通じたヒト細胞競合の理解","en":"Understanding cell competition in humans by elucidating the pathomechanism of porokeratosis"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["20H03704"]},{"title":{"ja":"精緻エピゲノム解析技術開発とIRUD未解明症例への応用","en":"Diagnosis of rare diseases and elucidation of molecular pathological states by using epigenetic information"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ek0109489"]},{"title":{"ja":"構造異常・スプライシング異常・メチル化異常の革新的検出系による未診断疾患患者の診断率向上とN-of-1創薬への導出","en":"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"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ek0109672"]},{"title":{"ja":"若年期体細胞モザイクの発生要因・拡大原理の解明とその制御による新規治療基盤の創出","en":"Elucidating the developing factors and expanding mechanisms of juvenile somatic mosaicism to establish novel therapeutic strategies"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的先端研究開発支援事業 ソロタイプ（PRIME）","en":"Precursory Research for Innovative Medical care (PRIME), Advanced Research & Development Programs for Medical Innovation, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21gm6310026"]},{"title":{"ja":"ヒト細胞競合モザイク疾患の疾患概念確立と病態解明","en":"Establishment of a novel disease concept for cell competitive mosaicism in human"},"agency":{"ja":"科学研究費助成事業 学術変革領域研究（A）","en":"KAKENHI Grant-in-Aid for Transformative Research Areas (A)"},"grantIds":["24H01406"]},{"title":{"ja":"体細胞セカンドヒットによる汗孔角化症の発症メカニズム解明","en":"Elucidation of the Pathogenic Mechanism of Porokeratosis Caused by Somatic Second-Hit Mutations"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["25K19541"]},{"title":{"ja":"未診断疾患イニシアチブ(Initiative on Rare and Undiagnosed Diseases(IRUD)):希少未診断疾患に対する診断プログラムの開発に関する研究","en":"Initiative on Rare and Undiagnosed Diseases(IRUD): Research on the development of diagnostic programs for rare undiagnosed diseases"},"agency":{"ja":"日本医療研究開発機構（AMED） 難治性疾患実用化研究事業","en":"Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24ek0109760"]},{"title":{"ja":"エピゲノム変異と細胞競合に着目したクローン性増殖モザイク疾患の病態解明","en":"Decoding Clonal Expansion in Mosaic Disorders: Epigenomic Alterations and Cell Competition"},"agency":{"ja":"公益財団法人 武田科学振興財団 生命科学研究助成","en":"Takeda Science Foundation"},"grantIds":null},{"title":{"ja":"ヒト細胞競合モザイク疾患の確立とその病態機構の解明","en":"Human Cell-Competition Mosaic Disorders: Establishing a New Disease Paradigm and Deciphering Pathogenesis"},"agency":{"ja":"公益財団法人 上原記念生命科学財団 特定研究助成金","en":"The Uehara Memorial Foundation"},"grantIds":null}],"relatedPublications":[{"title":"Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis","doi":"https://doi.org/10.1016/j.ajhg.2024.03.017","datasets":["JGAD000817"]},{"title":"Postzygotic NRAS Variants and Subsequent Copy-Neutral Loss of Heterozygosity Underlie Speckled Pattern Formation in Nevus Spilus-Type Congenital Melanocytic Nevus","doi":"https://doi.org/10.1016/j.jid.2026.08.007","datasets":["JGAD001073"]}],"datasets":["JGAD000817","JGAD001073"],"controlledAccessUsers":[]}