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ID 114630
タイトル別表記
Intractable neurological diseases and Genome medicine
著者
キーワード
intractable neurological disorders
genome medicine
development of genetic analysis
Initiative on Rare and Undiagnosed Diseases(IRUD)
genetic counseling
資料タイプ
学術雑誌論文
抄録
Development of techniques in genetic analysis can accelerate a discovery of genetic defects and contribute to uncovering the molecular pathogenesis in hereditary diseases, including rare and intractable neurological disorders. These techniques can be applied for clinical diagnosis in patients with undiagnosed diseases. In2015, Initiative on Rare and Undiagnosed Diseases(IRUD) was established in Japan. Tokushima University Hospital has engaged in the project since 2015. To date, more than 150 cases recruited in the institute have been subject to the genetic analysis in IRUD, and genetic defects associated with phenotype have been revealed in 18 patients. Optimal medication would be conducted based on the genotypes in near future. Considering the specificity of genome information in person, genetic counseling is indispensable pre- and post-analysis.
掲載誌名
四国医学雑誌
ISSN
00373699
cat書誌ID
AN00102041
出版者
徳島医学会
75
5-6
開始ページ
137
終了ページ
142
並び順
137
発行日
2019-12-25
EDB ID
フルテキストファイル
言語
jpn
著者版フラグ
出版社版
部局
医学系