{"id":"hum0180","version":1,"url":"https://humandbs.dbcls.jp/research/hum0180/v1","datePublished":"2021-03-12","versions":[{"version":1,"datePublished":"2021-03-12"}],"title":{"ja":"RNAスプライシングの異常によって生じる先天異常症候群および先天代謝異常症等の遺伝子解析と低分子化合物によるその治療法の開発研究","en":"Genetic study and evaluation of small molecule compounds for congenital diseases and metabolic disorders caused by an aberrant RNA splicing"},"summary":{"aims":{"ja":"RNAスプライシング異常によって生じる疾患の遺伝子解析","en":"Gene expression analysis of diseases caused by abnormal RNA splicing"},"methods":{"ja":"RNA-Seq","en":"RNA-Seq for a cellular RNA"},"targets":{"ja":"家族性自律神経異常症の線維芽細胞","en":"Familial Dysautonomia"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"家族性自律神経異常症：2症例","en":"Familial Dysautonomia: 2 cases"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"Coriell研究所から分与された家族性自律神経異常症2症例の線維芽細胞から抽出したRNAを対象としたRNA-seq解析データをfastqファイルおよびテキスト形式（transcripts per million：TPM値）にて提供する。Ion Total RNA-Seq Kit v2によるRNAライブラリ作製後、Ion Proton（Thermo Fisher Scientific）にて配列を読んだ（Single-end）。","en":"RNAs extracted from fibroblasts of 2 Familial Dysautonomia cases provided by Coriell institute were used for RNA-seq analysis. Libraries for RNA-seq were prepared with Ion Total RNA-Seq Kit v2 and RNA-seq was performed by using of Thermo Fisher Scientific [Ion Proton] (Single-end). Fastq files and txt files (transcripts per million: TPM) are provided."},"dataProviders":[{"name":{"ja":"網代 将彦","en":"Masahiko Ajiro"},"organization":{"name":{"ja":"京都大学大学院 医学研究科 創薬医薬講座","en":"Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"スプライシング操作化合物を対象としたファーマコゲノミクス解析に基づく遺伝性難病治療薬の開発研究","en":"Development of genetic disease medicine by pharmacogenomics analysis ofspliceswitching compounds"},"agency":{"ja":"日本医療研究開発機構（AMED） ゲノム創薬基盤推進研究事業","en":"Program for Promoting Platform of Genomics based Drug Discovery, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18kk0305003"]}],"relatedPublications":[{"title":"Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.","doi":"https://doi.org/10.1038/s41467-021-24705-5","datasets":["JGAD000248"]}],"datasets":["JGAD000248"],"controlledAccessUsers":[{"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":["JGAD000248"]}]}