Online ISSN : 1349-7421
Print ISSN : 0468-2513
ISSN-L : 0468-2513
  • 羽田 明
    2019 年 67 巻 6 号 p. 631-635
    発行日: 2019年
    公開日: 2019/05/12
    ジャーナル フリー
      The incredible speed at which research into the human genome has recently progressed has led to the widespread use of genomic data in clinical settings. The day will soon come when clinical practice that fails to utilize patients' genomic data will be considered outdated and will pose a high risk of legal action. In this lecture, I discuss several topics: 1.the progress of human genomic research, 2. Homo sapiens as just one of the many species on Earth; 3. the clinical applications of genomic research findings, with Kawasaki disease as an example;and 4.the current state of genomic research and its future prospects.
      Medical researchers and doctors have long dreamed of a day when health care services based on each individual's genomic data will be a reality;this is usually referred to as “madeto-order medicine,” “tailor-made medicine,” “personalized medicine,” and most recently, “precision medicine.” Thanks to the recent rapid development of genomic analysis,such as next-generation sequencing,as well as that of statistical analysis methods, it has been said that individual genomic data were available at a cost as low as$1,000 in 2014.
      Our planet is 4.6 billion years old, and life began 3.8 billion years ago. Since then,the Earth has witnessed the evolution of prokaryotic and eukaryotic unicellular organisms, followed by multicellular organisms, photosynthetic plants, the Cambrian explosion of marine life, and the emergence of land-dwelling creatures. Our mammalian ancestors appeared during the age of the dinosaurs, which suffered a mass extinction due to a dramatic change in climate caused by an asteroid impact. The small dinosaurs that survived evolved into today's birds while the mammals of that era evolved to successfully occupy a diverse array of ecological niches. The human family appeared about 2.5 million years ago in Africa. Archaic humans, such as Homo neanderthalensis, lived among our Homo sapiens ancestors, who appeared about 200,000 years ago. Now we know that 21%of the human genome has genes in common with prokaryotes and other eukaryotes. The difference between our genome and that of the gorilla and the chimpanzee is only 2% and 1%, respectively. Among Homo sapiens, the difference between any two individuals is only 0.2%, which manifests as differences in skin color, disease susceptibility, and other traits.
      Kawasaki disease was identified by Dr.Tomisaku Kawasaki, who reported his findings in 1967. Since then, vigorous efforts have been made to identify the cause of the disease, but so far, nothing specific has been found. We therefore took a genome-based approach and identified several genes responsible for the development of Kawasaki disease. Because some of the identified genes are thought to participate in the Ca2+-NFAT signal transduction pathway, we hypothesized that cyclosporine A, which is known as a suppressor of this pathway, might be useful in the treatment of the disease. We performed an investigator-initiated clinical trial and confirmed our hypothesis. This was one of the first clinical applications based on human genome research.
      Now, there are several large-scale genome-based projects, such as the UK Biobank, that are open to any researcher who would like to make use of their resources. They also contain clinical information and patient data, such as socioeconomic status, and educational background. With these kinds of resources at our disposal, we can expect great accomplishments in the not-too-distant future.
  • 石田 翔二, 米山 俊之, 紺野 寿, 藤本 まゆ, 稲垣 瞳, 大谷 清孝
    2019 年 67 巻 6 号 p. 669-677
    発行日: 2019年
    公開日: 2019/05/12
    ジャーナル フリー
     日帰り食物経口負荷試験(oral food challenge:OFC)に対する保護者の認識に関する検討が少ないため検討した。2015年4月から2016年5月に,外泊OFCの経験のある日帰りOFCを施行した患児の保護者に,日帰りOFC施行時に調査票を配布し,外泊OFCと日帰りOFCに関する意識調査を行ない検討した。除外対象は他院OFC経験者,および無効回答とした。日帰りOFC施行者は164人で除外対象を考慮した検討対象は全体で112人であり,また調査票の有効回答率は68%(112人)であった。外泊OFCの悪い点のうち,「翌日の来院」が全体で74%(83人)で最多であり,「夜間が不安」の12%(13人),「翌日の相談・質問ができる」の1%(1人)および「観察時間が長い」の12%(13人)より有意に多かった(各々p<0.01)。日帰りOFCの良い点では,「翌日の来院がない」が全体で87%(97人)で最多であり,「夜間が安心」の29%(33人),「翌日に仕事などに行けない」の38%(43人),および「観察時間が短い」の12%(13人)より有意に多かった(各々p<0.01)。日帰りの悪い点では,「夜間が不安」が全体で45%(50人)で最多であり,「翌日の来院がない」,の25%(28人),「翌日に仕事へ行かなくて済む」の24%(27人)および「観察時間が短い」の23%(26人)より有意に多かった(各々p<0.01)。OFCの希望は全体では外泊OFCの7%(8%)より日帰りOFCの78%(87人)の方が有意に多かった(p<0.01)。保護者は翌日の受診がないことから日帰りOFCをより希望していたが,当日の夜間に不安を感じる人が多い。
  • 田口 圭祐, 秋葉 靖雄, 水戸 裕二朗
    2019 年 67 巻 6 号 p. 678-682
    発行日: 2019年
    公開日: 2019/05/12
    ジャーナル フリー
  • 立松 愛子, 樋口 昌哉, 古市 千奈里, 左右田 昌彦, 中尾 心人, 村松 秀樹
    2019 年 67 巻 6 号 p. 683-687
    発行日: 2019年
    公開日: 2019/05/12
    ジャーナル フリー
  • 山内 郁乃, 森本 信二, 塚田 貴史, 松岡 竜也, 船崎 俊也, 鎌形 美那, 寺本 有里, 光井 潤一郎, 松田 充弘, 塗師 由紀子 ...
    2019 年 67 巻 6 号 p. 688-693
    発行日: 2019年
    公開日: 2019/05/12
    ジャーナル フリー