神経難病とゲノム医療

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.