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ID 114630
Title Alternative
Intractable neurological diseases and Genome medicine
Author
Keywords
intractable neurological disorders
genome medicine
development of genetic analysis
Initiative on Rare and Undiagnosed Diseases(IRUD)
genetic counseling
Content Type
Journal Article
Description
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.
Journal Title
Shikoku Acta Medica
ISSN
00373699
NCID
AN00102041
Publisher
徳島医学会
Volume
75
Issue
5-6
Start Page
137
End Page
142
Sort Key
137
Published Date
2019-12-25
EDB ID
FullText File
language
jpn
TextVersion
Publisher
departments
Medical Sciences