{"id":"hum0202","version":1,"url":"https://humandbs.dbcls.jp/research/hum0202/v1","datePublished":"2022-09-09","versions":[{"version":1,"datePublished":"2022-09-09"}],"title":{"ja":"言語聴覚リハビリテーションの向上を目的とした先天性難聴の遺伝的原因と生後早期の経過の解明","en":"Study of genetic background and time course of congenital hearing loss to increase efficacy of auditory, speech, and language therapy."},"summary":{"aims":{"ja":"遺伝子が関係していると考えられている先天性難聴の遺伝要因の同定と生後早期の経過の解明による言語聴覚リハビリテーションの向上","en":"To analyze genetic background of congenital to prelingual childhood-onset hearing loss to increase efficacy of auditory, speech, and language therapy."},"methods":{"ja":"必要に応じて身体への危険がない聴力検査を行なうとともに、年齢および体重に応じて採取した末梢血より抽出したDNAを用いたWhole Exome Sequencing解析を行う。","en":"DNA samples extracted from peripheral blood samples of prelingual childhood-onset hearing loss patients and their parents were subjected for subsequent genomic analyses. Auditory tests were also underwent."},"targets":{"ja":"原因不明の両側性・先天性の非症候群性難聴症例と当該症例の両親","en":"Patients and their parents"},"url":{"ja":[{"url":"https://www.amed.go.jp/news/seika/kenkyu/20200629.html","text":"https://www.amed.go.jp/news/seika/kenkyu/20200629.html"}],"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"先天性難聴：3症例とその両親\n（日本人）","en":"3 congenital hearing loss patients and their parents\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome）","en":"NGS\n(Exome)"}},"releaseNote":{"ja":"先天性難聴患者3症例とその両親の末梢血から抽出したDNAを用いたwhole exome sequencing解析データ由来の46バリアントの変異データをエクセルファイルにて提供する。","en":"DNAs extracted from peripheral blood cells of 3 congenital hearing loss patients and their parents were used for the whole exome sequencing analysis. 46 variants data are provided (xlsx)."},"dataProviders":[{"name":{"ja":"松永 達雄","en":"Tatsuo Matsunaga"},"organization":{"name":{"ja":"国立病院機構東京医療センター 臨床研究センター 聴覚・平衡覚研究部","en":"Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center"}}}],"researchProjects":[],"grants":[{"title":{"ja":"蝸牛神経低形成の新規原因候補ZBTB10の内耳発生における機能解析","en":"Molecular functional analysis of ZBTB10, the novel candidate deafness gene associated with cochlear nerve hypoplasia"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KEKENHI Gran-in-Aid for Scientific Research (C)"},"grantIds":["15K10773"]},{"title":{"ja":"新規難聴遺伝子候補SLC12A2の細胞・動物モデルを用いた分子病態解析","en":"Molecular, Cellular, and in vivo analysis of SLC12A2, a novel candidate of deafness gene"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KEKENHI Gran-in-Aid for Scientific Research (C)"},"grantIds":["18K09336"]},{"title":{"ja":"先天性難聴及びH7N9ワクチンに関する多施設共同研究のゲノム付随研究並びに本共同研究で収集された検体に対するBBJとのバンキングシステムの構築","en":"Multi-Centered Genome-Associated Research for Congenital Hearing Loss and H7N9 Vaccine and Development of the Sample Banking System to BBJ for the Collected Samples"},"agency":{"ja":"日本医療研究開発機構（AMED） オーダーメイド医療の実現プログラム事業","en":"Tailor-Made Medical Treatment with the BioBank Japan Project (BBJ), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP15km0305011"]},{"title":{"ja":"言語聴覚リハビリテーションの向上を目的とした先天性難聴の遺伝的原因と生後早期の経過の解明 - 新たな研究推進","en":"Study of Genetic Background and Time Course of Congenital Hearing Loss to Increase Efficacy of Auditory, Speech, and Language Therapy."},"agency":{"ja":"国立病院機構共同臨床研究","en":"National Hospital Organization Collaborative Clinical Research"},"grantIds":["H27-NHO(感覚)-02"]}],"relatedPublications":[{"title":"Variants Encoding a Restricted Carboxy-Terminal Domain of SLC12A2 Cause Hereditary Hearing Loss in Humans","doi":"https://doi.org/10.1371/journal.pgen.1008643","datasets":["JGAD000493"]}],"datasets":["JGAD000493"],"controlledAccessUsers":[]}