Progress of Clinical Neurogenetics(Workshop Therapeutic Progress in Neurological Diseases)

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  • Takashima Hiroshi
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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  • 臨床神経遺伝学の進歩(ワークショップ:神経疾患診療の進歩,2012年,第53回日本心身医学会総会ならびに学術講演会(鹿児島))
  • 臨床神経遺伝学の進歩
  • リンショウ シンケイ イデンガク ノ シンポ

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Abstract

Recent advances in genetic analysis technology have enabled a surprising progress in genetic diagnosis in the field of neurological disease research. High-throughput molecular biology techniques, such as microarrays and next-generation sequencing, are the major contributors to this progress and to new discoveries. Recent genetic studies have discovered numerous causes of genetic neurological diseases, such as familial motor neuron diseases, spastic paraplegia, and inherited neuropathies. In addition, genetic causes or related factors have been reported to be associated with non-inherited diseases such as idiopathic Parkinson's disease or multiple sclerosis by genome-wide association studies. We have also noted progress in genetic diagnosis. For example, genetic studies have revealed at least 40 disease causing-genes responsible for Charcot-Marie-Tooth disease (CMT). Concomitant with the increase in the number of genes that must be screened for mutations, the labor and reagent costs for molecular genetic testing have increased significantly. Therefore, new methodology for detecting gene mutations is required. Based on the recent progress in DNA analysis methods, resequencing microarray appears to be an economical and highly sensitive method for detecting mutations. We have been screening CMT patients for mutations using originally designed microarray DNA chips since 2007. In addition, next generation genome sequencers, which are advancing rapidly, seem to be more cost effective. This system promises to be one of the most valuable methods for genetic diagnosis and also genetic research.

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