Rinsho Shinkeigaku (Clinical Neurology)

Educational Lecture 2

Gene mutations; up date

Masanori Nakagawa, M.D.1)

1)Kyoto Prefectural University of Medicine, North Medical Center

The advance of sequencing technology, the exome analysis using next-generation sequencing (NGS), of the human genome has dramatically accelerated biomedical research and about 2,900 causative gene tests are now available. The discoveries of the causative genes for hereditary neurodegenerative diseases accelerated the studies on the pathophysiologic mechanisms of diseases and therapeutic strategies. Genome-wide association studies (GWAS) have successfully revealed numerous susceptibility genes for "common diseases" and neurodegenerative diseases with low odds ratios associated with risk alleles. It is expected that the dramatic advance of genome analysis and regenerative medicine by ES and iPS research bring a paradigm shift in clinical practice. The nationwide discussion for biomedical ethics in this personal genome era is absolutely needed.
Full Text of this Article in Japanese PDF (1131K)

(CLINICA NEUROL, 53: 903|906, 2013)
key words: gene mutations, next generation sequencer, exome sequencing analysis, genetic counseling, bioethics

(Received: 30-May-13)