{"id":"hum0567","version":1,"url":"https://humandbs.dbcls.jp/research/hum0567/v1","datePublished":"2026-09-18","versions":[{"version":1,"datePublished":"2026-09-18"}],"title":{"ja":"希少疾患（Fontan術後肝障害を含む）を背景として生じた肝がんの病態解明を目指したマルチオミクス解析","en":"The mutiomics analysis on liver tumor with rare liver diseases, including Fontan associated liver diseases"},"summary":{"aims":{"ja":"肝がんはそのほとんどがウイルス、薬物、代謝性疾患に関連した慢性肝障害を背景として発生する。慢性肝障害を呈するWilson病やヘモクロマトーシスなどの先天性代謝性疾患による肝がん発症例も稀ながら存在する。このような希少疾患を背景とする慢性肝障害の中で、Fontan術後の肝臓合併症（Fontan associated liver disease：FALD）が増加している。そこで、FALD症例をはじめとして、希少疾患を背景とする肝障害から発症する肝がんを対象に、臨床試料を用いた病因病態の解明や予後の向上のために必要な治療法をめざしたマルチオミクス解析をおこなう。","en":"Most liver cancers develop because of long-term liver disease caused by viruses, drugs, or metabolic disorders. The rare diseases, including Wilson's disease and hemochromatosis also develop liver cancer. Fontan-associated liver disease (FALD) is one of rare diseases and is increasing. Therefore, we conducted a multi-omics analysis targeting liver cancer arising from liver damage caused by rare diseases, especially FALD. This aims to elucidate the causes and development of the disease and establish treatments to improve the prognosis of patients."},"methods":{"ja":"Whole-genome sequencing、RNA sequencing","en":"whole-genome sequencing, RNA sequencing"},"targets":{"ja":"稀な肝希少疾患、特にFALDを背景に発症した肝がん","en":"liver cancer caused by rare liver diseases, especially FALD"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing; Expression profiling"},"targets":{"ja":"肝希少疾患を背景に発症した肝癌：13症例\n（日本人）","en":"liver cancer caused by rare liver diseases: 13 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS、RNA-seq）","en":"NGS\n(WGS, RNA-seq)"}},"releaseNote":{"ja":"肝希少疾患、特にFontan術後の肝臓合併症（Fontan associated liver disease：FALD）を背景に発症した肝がん13症例の腫瘍組織ならびに非腫瘍肝組織から抽出したDNA/RNAを用いたwhole-genome sequencing解析データならびにRNA sequencing解析データをfastq、vcf、csvファイルにて提供する。","en":"DNAs/RNAs extracted from tumor and non-tumor tissues obtained from patients with liver cancer caused by rare liver diseases, especially Fontan-associated liver disease were used for the whole-genome sequencing and RNA sequencing analyses. Fastq, vcf and csv files are provided."},"dataProviders":[{"name":{"ja":"考藤 達哉","en":"Tatsuya Kanto"},"organization":{"name":{"ja":"国立健康危機管理研究機構 国立国際医療研究所 肝炎・免疫研究センター 肝疾患研究部","en":"Department of Liver Diseases, The Research Center for Hepatitis and Immunology, National Institute of Global Health and Medicine, Japan Institute for Health Security"}}}],"researchProjects":[],"grants":[{"title":{"ja":"FALD（Fontan術後肝臓合併症）の疫学調査・レジストリ拡充と病態解明に基づく診療ガイドライン作成に資する研究","en":"Epidemiological and mechanistic studies of FALD for clinical guideline"},"agency":{"ja":"国立国際医療研究センター 国立国際医療研究開発費","en":"Grant-in-Aid for Research, National Center for Global Health and Medicine"},"grantIds":["22A2001","24A2001"]}],"relatedPublications":[{"title":"Genomic and transcriptomic profiling of hepatocellular carcinoma in patients with Fontan-associated liver disease","doi":"https://doi.org/10.1097/HEP.0000000000001693","datasets":["JGAD001048"]}],"datasets":["JGAD001048"],"controlledAccessUsers":[]}