{"id":"hum0144","version":1,"url":"https://humandbs.dbcls.jp/research/hum0144/v1","datePublished":"2020-01-10","versions":[{"version":1,"datePublished":"2020-01-10"}],"title":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析（ダウン症候群患者におけるB前駆細胞性急性リンパ性白血病）","en":"Comprehensive analysis of genetic alterations in hematological malignancies (pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome)"},"summary":{"aims":{"ja":"B前駆細胞性急性リンパ性白血病を併発するダウン症候群症例について、次世代シーケンサーを用いた種々の解析技術により疾患発症の原因となる遺伝子異常を同定する。","en":"To explore genetic alteratoins in pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome"},"methods":{"ja":"SNPアレイデータ、全RNAシーケンスデータ、および、メチル化アレイデータを統合的に解析する","en":"SNP array, whole transcriptome sequencing, and DNA methylation array were performed in cases of pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome"},"targets":{"ja":"前駆細胞性急性リンパ性白血病を併発するダウン症候群 43症例","en":"43 pediatric B-cell precursor acute lymphoblastic leukemia cases in Down syndrome"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現\nメチル化\nゲノムワイド","en":"Expression profiling, Methylation profiling, Genome-wide analysis"},"targets":{"ja":"ダウン症候群患者のB前駆細胞性急性リンパ性白血病：43症例\n（日本人）","en":"pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome: 43 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）\nメチル化アレイ\nSNP-chip","en":"NGS\n(RNA-seq),\nMethylation array,\nSNP array"}},"releaseNote":{"ja":"B前駆細胞性急性リンパ性白血病を併発するダウン症候群43症例の骨髄液（腫瘍細胞含む）から抽出したDNA/RNAを用いたRNA-seq、メチル化アレイ、SNPアレイ解析結果をbam、idat、CELファイル形式で提供する。","en":"SNP array, whole transcriptome sequencing, and DNA methylation array in 43 cases of pediatric B-cell precursor acute lymphoblastic leukemia in Down syndrome were performed using DNA/RNAs extracted from bone marrow aspirates of patients. The data are provided as bam, idat and CEL format files."},"dataProviders":[{"name":{"ja":"滝田 順子","en":"Junko Takita"},"organization":{"name":{"ja":"東京大学大学院 医学系研究科 生殖・発達・加齢医学専攻 小児医学講座","en":"Department of Pediatrics, Graduate School of Medicine, The University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析","en":"Comprehensive analysis of genetic aberrations in hematologic malignancies"},"url":{"ja":[{"url":"https://tokyoped.jp/aboutus/activity/clinical","text":"https://tokyoped.jp/aboutus/activity/clinical"}],"en":null}}],"grants":[{"title":{"ja":"分子プロファイリングを基盤とした小児期からAYA世代に発症する難治がんの新規治療法 の開発","en":"Development for novel therapeutic stratagies of intractable cancers in children and adolescent and young adult using molecular profilings"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16cm0106509"]},{"title":{"ja":"マルチオミックス情報を基盤とした難治性小児がんに対する新規克服法の開発","en":"Development for novel therapeutic stratagies of intractable pediatric cancers based on the multi-omics analysis"},"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":["17H04224"]}],"relatedPublications":[{"title":"Integrated genetic and epigenetic analysis revealed heterogeneity of acute lymphoblastic leukemia in Down syndrome","doi":"https://doi.org/10.1111/cas.14160","datasets":["JGAD000221"]}],"datasets":["JGAD000221"],"controlledAccessUsers":[{"principalInvestigator":{"en":"Jinyan Huang"},"affiliation":{"en":"Zhejiang University School of Medicine, 79 Qingchun Road, Hangzhou, 310003, Zhejiang, China. Biomedical big data center, the First Affiliated Hospital, Zhejiang University"},"country":{"ja":"中国","en":"China"},"researchTitle":{"en":"Comprehensive analysis of alternative splicing in malignant tumors"},"periodStart":"2022-03-15","periodEnd":"2024-01-01","datasets":["JGAD000221"]},{"principalInvestigator":{"en":"Ching Lau"},"affiliation":{"en":"Pediatric Oncology, The Jackson Lab for Genomic Medicine"},"country":{"ja":"アメリカ合衆国 (コネチカット州)","en":"Connecticut, United States"},"researchTitle":{"en":"AML in Down's Syndrome"},"periodStart":"2022-08-18","periodEnd":"2028-01-13","datasets":["JGAD000221"]},{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000221"]},{"principalInvestigator":{"en":"Sebastien Malinge"},"affiliation":{"en":"Translational Genomics in Leukaemia, The Kids Research Institute Australia"},"country":{},"researchTitle":{"en":"Identifying the genetic alterations contributing to leukaemia development in children."},"periodStart":"2026-01-02","periodEnd":"2027-12-31","datasets":["JGAD000221"]}]}