{"id":"hum0382","version":1,"url":"https://humandbs.dbcls.jp/research/hum0382/v1","datePublished":"2023-01-19","versions":[{"version":1,"datePublished":"2023-01-19"}],"title":{"ja":"造血器疾患における遺伝子異常・エピジェネティクス異常の解析","en":"Analysis of genetic and epigenetic abnormalities in hematopoietic diseases"},"summary":{"aims":{"ja":"造血器疾患患者より採取した腫瘍細胞を用いたゲノム解析を通して検出された遺伝子異常やエピジェネティクス異常と、細胞生物学的実験や臨床情報とを統合して解析することで、疾患の発症・進展・維持のメカニズムや予後との関連性を探索する。具体的にはどのような遺伝子異常・エピジェネティック異常が折り重なって造血器疾患を発症するのか、どのような細胞が造血器疾患の発生母地なのか、どのような異常があると造血器疾患が進行するのか、またどういう異常が臨床的予後に影響するのか、といった点について明らかにする。","en":"We collect tumor cells from patients with hematopoietic diseases, analyze genetic abnormalities and epigenetic abnormalities through genomic analyses, and integrate them with cell biological experiments and clinical information to understand the onset, progression, and maintenance of the disease. Specifically, what kind of genetic and epigenetic abnormalities stack up to cause hematopoietic diseases, what kind of cells are the origin of hematopoietic diseases, what kind of abnormalities lead to hematopoietic diseases, and what abnormalities influence clinical prognosis?"},"methods":{"ja":"骨髄単核細胞（ficoll-paqueにより精製）および頬粘膜細胞より抽出したDNAを用いた全ゲノムシーケンス解析","en":"DNAs extracted from bone marrow mononuclear cells purified by ficoll-paque (GE HealthCare, Chicago, IL) and oral mucosa cells were used for whole-genome sequencing analysis."},"targets":{"ja":"FUS-ERGを伴う骨髄異形成症候群（myelodysplastic syndrome：MDS）と診断され、後にFUS-ERGを伴う急性骨髄性白血病（acute myeloid leukemia: AML）として再発した1症例","en":"A patient who was initially diagnosed with myelodysplastic syndrome (MDS) and had a fusion FUS gene with ERG (FUS-ERG), and relapsed acute myeloid leukemia (AML) with FUS-ERG"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"FUS-ERGを伴う急性骨髄性白血病：1症例\n（日本人）","en":"AML with FUS-ERG: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（WGS）","en":"NGS\n(WGS)"}},"releaseNote":{"ja":"FUS-ERGを伴う急性骨髄性白血病1症例の骨髄細胞および口腔内スワブから抽出したDNAを用いたwhole genome sequencing解析データをfastq、bam、txtファイルにて提供する。","en":"DNAs extracted from bone marrow mononuclear cells and oral mucosa cells of a patient with acute myeloid leukemia with the fusion of FUS gene with ERG were used for the whole genome sequencing analyses. Fastq, bam, and txt files are provided."},"dataProviders":[{"name":{"ja":"河原 真大","en":"Masahiro Kawahara"},"organization":{"name":{"ja":"滋賀医科大学 血液内科","en":"Department of Hematology, Shiga University of Medical Science"}}}],"researchProjects":[{"name":{"ja":"造血器疾患における遺伝子異常・エピジェネティクス異常の解析","en":"Analysis of genetic and epigenetic abnormalities in hematopoietic diseases"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":null,"en":null},"agency":{"ja":"中外製薬株式会社","en":"Chugai pharmaceutical Co., Ltd"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"協和キリン株式会社","en":"Kyowa Kirin Co., Ltd"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"サノフィ株式会社","en":"Sanofi K.K."},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"MSD株式会社","en":"MSD K.K."},"grantIds":null}],"relatedPublications":[{"title":"FUS-ERG induces late-onset azacitidine resistance in acute myeloid leukaemia cells","doi":"https://doi.org/10.1038/s41598-023-41230-1","datasets":["JGAD000714"]}],"datasets":["JGAD000714"],"controlledAccessUsers":[]}