{"id":108338,"date":"2025-07-30T15:16:52","date_gmt":"2025-07-30T06:16:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=108338"},"modified":"2025-07-30T15:18:04","modified_gmt":"2025-07-30T06:18:04","slug":"treatable-intellectual-disability-genetics","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/","title":{"rendered":"\u300c\u5909\u308f\u3089\u306a\u3044\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u77e5\u7684\u969c\u5bb3\u306b\u3001\u6839\u62e0\u3042\u308b\u5e0c\u671b\u3092\u898b\u3064\u3051\u308b\u6642\u4ee3\u3078"},"content":{"rendered":"\n<p><\/p>\n\n\n\n<div style=\"border: 4px solid #80c1ea; background-color: #f8fcff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.04);\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 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ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%8A%E3%82%88%E3%81%B3%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E3%81%AA%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91_Intellectual_Disability_as_a_Clinical_and_Biological_Category\" >\u77e5\u7684\u969c\u5bb3\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u751f\u7269\u5b66\u7684\u306a\u4f4d\u7f6e\u3065\u3051 | Intellectual Disability as a Clinical and Biological Category<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E6%B2%BB%E7%99%82%E5%8F%AF%E8%83%BD%E3%81%AA%E5%85%88%E5%A4%A9%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E7%97%87%E3%81%AE%E8%A8%BC%E6%8B%A0%E3%81%A8%E7%8F%BE%E7%8A%B6_Treatable_Inborn_Errors_of_Metabolism_The_Evidence_Base\" >\u6cbb\u7642\u53ef\u80fd\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u8a3c\u62e0\u3068\u73fe\u72b6 | Treatable Inborn Errors of Metabolism: The Evidence Base<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E8%A8%BA%E6%96%AD%E3%81%8B%E3%82%89%E6%B2%BB%E7%99%82%E3%81%B8%EF%BC%9A%E3%82%B2%E3%83%8E%E3%83%A0%E6%A4%9C%E6%9F%BB%E3%81%AE%E5%BD%B9%E5%89%B2_From_Diagnosis_to_Intervention_The_Role_of_Genomic_Testing\" >\u8a3a\u65ad\u304b\u3089\u6cbb\u7642\u3078\uff1a\u30b2\u30ce\u30e0\u691c\u67fb\u306e\u5f79\u5272 | From Diagnosis to Intervention: The Role of Genomic Testing<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E7%97%85%E6%85%8B%E3%81%AB%E5%9F%BA%E3%81%A5%E3%81%8F%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AE%E6%96%B0%E3%81%97%E3%81%84%E5%8F%AF%E8%83%BD%E6%80%A7_Mechanism-Informed_Therapies_Emerging_Hope\" >\u75c5\u614b\u306b\u57fa\u3065\u304f\u6cbb\u7642\u6cd5\u306e\u65b0\u3057\u3044\u53ef\u80fd\u6027 | Mechanism-Informed Therapies: Emerging Hope<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E8%A8%BC%E6%8B%A0%E3%81%A8%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E8%AA%B2%E9%A1%8C_Challenges_in_Evidence_and_Access\" >\u8a3c\u62e0\u3068\u30a2\u30af\u30bb\u30b9\u306b\u304a\u3051\u308b\u8ab2\u984c | Challenges in Evidence and Access<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%82%92%E8%A6%8B%E7%9B%B4%E3%81%99%EF%BC%9A%E4%BB%8B%E5%85%A5%E5%8F%AF%E8%83%BD%E3%81%AA%E7%8A%B6%E6%85%8B%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E6%96%B0%E3%81%9F%E3%81%AA%E6%8D%89%E3%81%88%E6%96%B9_A_Shift_in_Paradigm_Toward_Treatability\" >\u77e5\u7684\u969c\u5bb3\u3092\u898b\u76f4\u3059\uff1a\u4ecb\u5165\u53ef\u80fd\u306a\u72b6\u614b\u3068\u3057\u3066\u306e\u65b0\u305f\u306a\u6349\u3048\u65b9 | A Shift in Paradigm: Toward Treatability<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E3%81%8A%E3%82%8F%E3%82%8A%E3%81%AB%EF%BC%9A%E5%B8%8C%E6%9C%9B%E3%81%A8%E8%B2%AC%E4%BB%BB%E3%81%AE%E4%B8%A1%E7%AB%8B%E3%82%92%E3%82%81%E3%81%96%E3%81%97%E3%81%A6_Conclusion_Balancing_Hope_and_Responsibility\" >\u304a\u308f\u308a\u306b\uff1a\u5e0c\u671b\u3068\u8cac\u4efb\u306e\u4e21\u7acb\u3092\u3081\u3056\u3057\u3066 | Conclusion: Balancing Hope and Responsibility<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/treatable-intellectual-disability-genetics\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #2a79b8; text-align: left; border-bottom: 2px solid #a6cbdc; padding-bottom: 0.25rem;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\n  \u3084\u3055\u3057\u3044\u307e\u3068\u3081\n<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<div>\n  <p style=\"margin: 0; font-size: 1rem; color: #333;\">\n  <p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08Intellectual Disability\uff1aID\uff09\u306f\u3001\u300c\u4e00\u751f\u6cbb\u3089\u306a\u3044\u3082\u306e\u300d\u3068\u601d\u308f\u308c\u304c\u3061\u3067\u3059\u304c\u3001\u6700\u8fd1\u306e\u533b\u5b66\u7814\u7a76\u306b\u3088\u308a\u3001\u4e00\u90e8\u306e\u30b1\u30fc\u30b9\u3067\u306f\u539f\u56e0\u3092\u7279\u5b9a\u3057\u3001\u65e9\u671f\u306b\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u767a\u9054\u3084\u751f\u6d3b\u306e\u8cea\u304c\u6539\u5584\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n  <p>\u7279\u306b\u3001\u300c\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08Inborn Errors of Metabolism\uff1aIEMs\uff09\u300d\u3084\u300c\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff08Monogenic Disorders\uff09\u300d\u306e\u3088\u3046\u306b\u3001\u4f53\u306e\u4e2d\u306e\u5316\u5b66\u53cd\u5fdc\u3084\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u306b\u554f\u984c\u304c\u3042\u308b\u3053\u3068\u3067\u8d77\u3053\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3067\u306f\u3001\u98df\u4e8b\u7642\u6cd5\u3084\u9175\u7d20\u88dc\u5145\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306b\u3088\u3063\u3066\u6539\u5584\u304c\u671f\u5f85\u3067\u304d\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n  <p>\u3053\u306e\u30b3\u30e9\u30e0\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u65b0\u3057\u3044\u7406\u89e3\u3068\u3001\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u539f\u56e0\u3092\u63a2\u308b\u306e\u304b\u3001\u6cbb\u7642\u306e\u9078\u629e\u80a2\u3084\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u533b\u7642\u8005\u3068\u3054\u5bb6\u65cf\u304c\u4e00\u7dd2\u306b\u524d\u5411\u304d\u306b\u8003\u3048\u308b\u305f\u3081\u306e\u60c5\u5831\u3092\u3001\u3084\u3055\u3057\u304f\u4e01\u5be7\u306b\u3054\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB_Introduction\"><\/span><strong>\u306f\u3058\u3081\u306b | Introduction<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08Intellectual Disability\uff1aID\uff09\u306f\u3001\u3053\u308c\u307e\u3067\u300c\u751f\u307e\u308c\u3064\u304d\u306e\u3001\u6cbb\u3059\u3053\u3068\u304c\u3067\u304d\u306a\u3044\u4e00\u751f\u306e\u72b6\u614b\u300d\u3068\u3057\u3066\u6349\u3048\u3089\u308c\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u8fd1\u5e74\u3001\u30b2\u30ce\u30e0\u533b\u7642\uff08genomic medicine\uff09\u3084\u795e\u7d4c\u751f\u7269\u5b66\uff08neurobiology\uff09\u3001\u4ee3\u8b1d\u306b\u95a2\u3059\u308b\u7814\u7a76\u304c\u9032\u3080\u4e2d\u3067\u3001\u3053\u306e\u8003\u3048\u65b9\u306b\u5927\u304d\u306a\u5909\u5316\u304c\u751f\u307e\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u306b\u3001\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08Inborn Errors of Metabolism\uff1aIEMs\uff09\u3084\u3001\u7279\u5b9a\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u306b\u95a2\u4fc2\u3059\u308b\u75c5\u6c17\uff08monogenic disorders\uff09\u306b\u3088\u3063\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u751f\u3058\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u306e\u4e2d\u306b\u306f\u3001\u65e9\u671f\u306b\u9069\u5207\u306a\u5bfe\u5fdc\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u767a\u9054\u3084\u884c\u52d5\u3001\u795e\u7d4c\u5b66\u7684\u306a\u5074\u9762\u306b\u304a\u3044\u3066\u6539\u5584\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u5831\u544a\u304c\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u77e5\u7684\u6a5f\u80fd\u304c\u5b8c\u5168\u306b\u56de\u5fa9\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u6cbb\u7642\u306e\u30bf\u30a4\u30df\u30f3\u30b0\u3084\u65b9\u6cd5\u306b\u3088\u3063\u3066\u306f\u3001\u4eca\u3088\u308a\u3082\u300c\u3067\u304d\u308b\u3053\u3068\u304c\u5897\u3048\u308b\u300d\u300c\u751f\u6d3b\u306e\u8cea\u304c\u4e0a\u304c\u308b\u300d\u53ef\u80fd\u6027\u304c\u3042\u308b\u306e\u3067\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u65b0\u3057\u3044\u898b\u65b9\u306f\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u533b\u7642\u8005\u306b\u3068\u3063\u3066\u3082\u3001\u300c\u4ed5\u65b9\u306e\u306a\u3044\u3053\u3068\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u3067\u304d\u308b\u3053\u3068\u3092\u4e00\u7dd2\u306b\u8003\u3048\u308b\u300d\u305f\u3081\u306e\u5927\u5207\u306a\u4e00\u6b69\u3068\u306a\u308a\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%81%AE%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%8A%E3%82%88%E3%81%B3%E7%94%9F%E7%89%A9%E5%AD%A6%E7%9A%84%E3%81%AA%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91_Intellectual_Disability_as_a_Clinical_and_Biological_Category\"><\/span><strong>\u77e5\u7684\u969c\u5bb3\u306e\u81e8\u5e8a\u7684\u304a\u3088\u3073\u751f\u7269\u5b66\u7684\u306a\u4f4d\u7f6e\u3065\u3051 | Intellectual Disability as a Clinical and Biological Category<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>ID\u306f\u3001\u77e5\u7684\u6a5f\u80fd\uff08IQ\u304c\u304a\u304a\u3088\u305d70\u4ee5\u4e0b\uff09\u3068\u65e5\u5e38\u751f\u6d3b\u306b\u5fc5\u8981\u306a\u9069\u5fdc\u884c\u52d5\u306e\u4e21\u65b9\u306b\u8457\u3057\u3044\u56f0\u96e3\u304c\u3042\u308a\u3001\u305d\u306e\u59cb\u307e\u308a\u304c\u4e73\u5150\u671f\u304b\u3089\u601d\u6625\u671f\u307e\u3067\u306e\u767a\u9054\u671f\u306b\u3042\u308b\u72b6\u614b\u3068\u3057\u3066\u5b9a\u7fa9\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u5b66\u7fd2\u3084\u63a8\u8ad6\u3001\u8a00\u8a9e\u3001\u5224\u65ad\u529b\u3001\u793e\u4f1a\u7684\u306a\u3084\u308a\u3068\u308a\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u81ea\u7acb\u306b\u95a2\u308f\u308b\u3055\u307e\u3056\u307e\u306a\u529b\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5f93\u6765\u306f\u3001IQ\u30b9\u30b3\u30a2\u306b\u57fa\u3065\u3044\u3066\u300c\u8efd\u5ea6\u300d\u300c\u4e2d\u7b49\u5ea6\u300d\u300c\u91cd\u5ea6\u300d\u300c\u6700\u91cd\u5ea6\u300d\u3068\u3044\u3063\u305f\u5206\u985e\u304c\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u5206\u985e\u3060\u3051\u3067\u306f\u672c\u8cea\u7684\u306a\u9055\u3044\u3092\u5341\u5206\u306b\u6349\u3048\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u80cc\u666f\u306b\u306f\u975e\u5e38\u306b\u591a\u69d8\u306a\u751f\u7269\u5b66\u7684\u539f\u56e0\u304c\u3042\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306b\u3001\u7d041300\u7a2e\u985e\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3068\u95a2\u4fc2\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082\u3001\u9175\u7d20\u306e\u50cd\u304d\u306b\u95a2\u4fc2\u3059\u308b\u300c\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08IEMs\uff09\u300d\u306e\u3088\u3046\u306b\u3001\u4f53\u306e\u4e2d\u306e\u5316\u5b66\u53cd\u5fdc\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u3053\u3068\u3067\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c5\u6c17\u306f\u3001\u65e9\u671f\u306e\u6cbb\u7642\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u9032\u884c\u3092\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u300c\u4e00\u5f8b\u306b\u5909\u3048\u3089\u308c\u306a\u3044\u3082\u306e\u300d\u3067\u306f\u306a\u304f\u3001\u305d\u306e\u80cc\u666f\u306b\u3042\u308b\u4ed5\u7d44\u307f\u3092\u7406\u89e3\u3057\u3001\u9069\u5207\u306a\u65b9\u6cd5\u3067\u50cd\u304d\u304b\u3051\u308b\u3053\u3068\u3067\u3001\u3088\u308a\u826f\u3044\u65b9\u5411\u306b\u5909\u3048\u3066\u3044\u3051\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u72b6\u614b\u3068\u3057\u3066\u898b\u76f4\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E5%8F%AF%E8%83%BD%E3%81%AA%E5%85%88%E5%A4%A9%E6%80%A7%E4%BB%A3%E8%AC%9D%E7%95%B0%E5%B8%B8%E7%97%87%E3%81%AE%E8%A8%BC%E6%8B%A0%E3%81%A8%E7%8F%BE%E7%8A%B6_Treatable_Inborn_Errors_of_Metabolism_The_Evidence_Base\"><\/span><strong>\u6cbb\u7642\u53ef\u80fd\u306a\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306e\u8a3c\u62e0\u3068\u73fe\u72b6 | Treatable Inborn Errors of Metabolism: The Evidence Base<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>2021\u5e74\u306e\u5927\u898f\u6a21\u306a\u30ec\u30d3\u30e5\u30fc\u7814\u7a76\u3067\u306f\u3001\u6cbb\u7642\u304c\u53ef\u80fd\u3067\u3042\u308a\u3001\u304b\u3064ID\u3084\u767a\u9054\u306e\u9045\u308c\uff08developmental delay\uff1aDD\uff09\u3092\u4e3b\u8981\u306a\u7279\u5fb4\u3068\u3059\u308bIEMs\u304c116\u75be\u60a3\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u308c\u306f\u30012014\u5e74\u6642\u70b9\u306e89\u75be\u60a3\u304b\u3089\u5927\u304d\u304f\u62e1\u5927\u3055\u308c\u305f\u6570\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8abf\u67fb\u306f\u3001139\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u3001\u305d\u308c\u305e\u308c\u306e\u75c5\u6c17\u306b\u5bfe\u3057\u3066\u3001\u3069\u306e\u3088\u3046\u306a\u6cbb\u7642\u65b9\u6cd5\u304c\u4f7f\u3048\u308b\u306e\u304b\u3001\u305d\u306e\u52b9\u679c\u306e\u5f37\u3055\u3084\u6839\u62e0\u306e\u30ec\u30d9\u30eb\u306b\u3064\u3044\u3066\u3082\u8a55\u4fa1\u304c\u884c\u308f\u308c\u307e\u3057\u305f\u3002\u3053\u3046\u3057\u305f\u60c5\u5831\u306f\u3001\u73fe\u5728\u3067\u306f\u300cTreatable ID App\u300d\u3068\u3044\u3046\u81e8\u5e8a\u652f\u63f4\u30c4\u30fc\u30eb\u306b\u7d71\u5408\u3055\u308c\u3066\u304a\u308a\u3001\u533b\u5e2b\u304c\u3088\u308a\u65e9\u304f\u6b63\u78ba\u306b\u8a3a\u65ad\u3084\u6cbb\u7642\u3092\u9032\u3081\u3089\u308c\u308b\u3088\u3046\u30b5\u30dd\u30fc\u30c8\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306e\u65b9\u6cd5\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u4ee3\u8868\u7684\u306a\u3082\u306e\u3068\u3057\u3066\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4ecb\u5165\u304c\u6319\u3052\u3089\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<p>\uff11\u3000\u3000\u6804\u990a\u7642\u6cd5\uff08\u7279\u5b9a\u306e\u30a2\u30df\u30ce\u9178\u3084\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5236\u9650\u306a\u3069\uff09<br>\uff12\u3000\u3000\u30d3\u30bf\u30df\u30f3\u3084\u88dc\u9175\u7d20\u306e\u88dc\u5145\u7642\u6cd5<br>\uff13\u3000\u3000\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09<br>\uff14\u3000\u3000\u907a\u4f1d\u5b50\u6cbb\u7642\uff08\u73fe\u5728\u306f\u4e00\u90e8\u306e\u75be\u60a3\u3067\u81e8\u5e8a\u8a66\u9a13\u4e2d\uff09<br>\uff15\u3000\u3000\u85ac\u5264\u306b\u3088\u308b\u4ee3\u8b1d\u3084\u795e\u7d4c\u6a5f\u80fd\u306e\u8abf\u7bc0\uff08\u65e2\u5b58\u85ac\u306e\u8ee2\u7528\u3092\u542b\u3080\uff09<\/p>\n\n\n\n<p>\u305f\u3068\u3048\u3070\u3001\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08PKU\uff09\u3067\u306f\u3001\u65e9\u671f\u306b\u98df\u4e8b\u7642\u6cd5\u3092\u884c\u3046\u3053\u3068\u3067\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u307b\u307c\u5b8c\u5168\u306b\u4e88\u9632\u3067\u304d\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4ed6\u306e\u75be\u60a3\u3067\u3082\u3001\u65e9\u304f\u306b\u6cbb\u7642\u3092\u958b\u59cb\u3059\u308c\u3070\u3001\u767a\u9054\u3084\u884c\u52d5\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u305f\u308a\u3001\u6539\u5584\u3055\u305b\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u3059\u3079\u3066\u306e\u6cbb\u7642\u304c\u5287\u7684\u306a\u52b9\u679c\u3092\u3082\u305f\u3089\u3059\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u300c\u5c11\u3057\u3067\u3082\u524d\u306b\u9032\u3081\u308b\u300d\u300c\u751f\u6d3b\u306e\u3057\u3084\u3059\u3055\u304c\u9ad8\u307e\u308b\u300d\u3053\u3068\u81ea\u4f53\u304c\u3001\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3064\u3068\u3044\u3046\u58f0\u3082\u591a\u304f\u805e\u304b\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%8B%E3%82%89%E6%B2%BB%E7%99%82%E3%81%B8%EF%BC%9A%E3%82%B2%E3%83%8E%E3%83%A0%E6%A4%9C%E6%9F%BB%E3%81%AE%E5%BD%B9%E5%89%B2_From_Diagnosis_to_Intervention_The_Role_of_Genomic_Testing\"><\/span><strong>\u8a3a\u65ad\u304b\u3089\u6cbb\u7642\u3078\uff1a\u30b2\u30ce\u30e0\u691c\u67fb\u306e\u5f79\u5272 | From Diagnosis to Intervention: The Role of Genomic Testing<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6cbb\u7642\u53ef\u80fd\u306aID\u3092\u898b\u3064\u3051\u51fa\u3059\u305f\u3081\u306b\u3001\u907a\u4f1d\u5b50\u691c\u67fb\uff08genetic testing\uff09\u306f\u4eca\u3084\u6b20\u304b\u305b\u306a\u3044\u624b\u6bb5\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u539f\u56e0\u304c\u660e\u3089\u304b\u3067\u306a\u3044ID\u3084DD\u306b\u5bfe\u3057\u3066\u306f\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08exome sequencing\uff1aES\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u300130\uff5e40\uff05\u306e\u65b9\u306b\u304a\u3044\u3066\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u7684\u5909\u7570\u304c\u7279\u5b9a\u3067\u304d\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08chromosomal microarray\uff1aCMA\uff09\u3067\u306f\u7d0415\uff5e20\uff05\u3001FMR1\u907a\u4f1d\u5b50\u306e\u7e70\u308a\u8fd4\u3057\u914d\u5217\u691c\u67fb\uff08Fragile X\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\uff09\u3067\u306f1\uff5e2\uff05\u306e\u8a3a\u65ad\u7387\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u691c\u67fb\u3060\u3051\u3067\u5168\u3066\u304c\u89e3\u6c7a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u591a\u304f\u306eIEMs\u306f\u3001\u6700\u521d\u306e\u75c7\u72b6\u304c\u975e\u5e38\u306b\u3042\u3044\u307e\u3044\u3067\u3001\u4e00\u822c\u7684\u306a\u691c\u67fb\u3067\u306f\u898b\u9003\u3055\u308c\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u6700\u521d\u306f\u5358\u306a\u308b\u300c\u3053\u3068\u3070\u306e\u9045\u308c\u300d\u3084\u300c\u843d\u3061\u7740\u304d\u306e\u306a\u3055\u300d\u3068\u3044\u3063\u305f\u5f62\u3067\u73fe\u308c\u3001\u3057\u3070\u3089\u304f\u306e\u9593\u306f\u660e\u78ba\u306a\u8a3a\u65ad\u306b\u3064\u306a\u304c\u3089\u306a\u3044\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\uff08NBS\uff09\u3067\u898b\u3064\u304b\u308b\u75c5\u6c17\u306f\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u6cbb\u7642\u53ef\u80fd\u306aIEMs\u306e\u591a\u304f\u306fNBS\u306e\u5bfe\u8c61\u306b\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u300c\u3054\u5bb6\u65cf\u304c\u611f\u3058\u308b\u3061\u3087\u3063\u3068\u3057\u305f\u9055\u548c\u611f\u300d\u3084\u300c\u767a\u9054\u306e\u6c17\u306b\u306a\u308b\u90e8\u5206\u300d\u3082\u3001\u65e9\u671f\u306e\u533b\u7642\u76f8\u8ac7\u3084\u5c02\u9580\u7684\u306a\u691c\u67fb\u306b\u3064\u306a\u304c\u308b\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u300cTreatable ID App\u300d\u3084\u300cTIDE\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u300d\u306e\u3088\u3046\u306a\u81e8\u5e8a\u652f\u63f4\u30c4\u30fc\u30eb\u304c\u3001\u75c7\u72b6\u304b\u3089\u691c\u67fb\u306e\u65b9\u5411\u6027\u3092\u7d5e\u308a\u8fbc\u3080\u305f\u3081\u306e\u652f\u63f4\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u30c4\u30fc\u30eb\u306e\u6d3b\u7528\u306b\u3088\u3063\u3066\u3001\u8a3a\u65ad\u307e\u3067\u306e\u6642\u9593\u3092\u77ed\u7e2e\u3057\u3001\u6cbb\u7642\u958b\u59cb\u306e\u9045\u308c\u3092\u9632\u3050\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308b\u3068\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%85%8B%E3%81%AB%E5%9F%BA%E3%81%A5%E3%81%8F%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AE%E6%96%B0%E3%81%97%E3%81%84%E5%8F%AF%E8%83%BD%E6%80%A7_Mechanism-Informed_Therapies_Emerging_Hope\"><\/span><strong>\u75c5\u614b\u306b\u57fa\u3065\u304f\u6cbb\u7642\u6cd5\u306e\u65b0\u3057\u3044\u53ef\u80fd\u6027 | Mechanism-Informed Therapies: Emerging Hope<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001\u4ee3\u8b1d\u7570\u5e38\u3084\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3060\u3051\u3067\u306a\u304f\u3001\u300c\u305d\u308c\u3089\u304c\u7d30\u80de\u306e\u4e2d\u3067\u3069\u306e\u3088\u3046\u306a\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3057\u3066\u3044\u308b\u306e\u304b\u300d\u3068\u3044\u3063\u305f\u75c5\u614b\uff08mechanism\uff09\u306b\u57fa\u3065\u3044\u305f\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u4eca\u307e\u3067\u306f\u300c\u6cbb\u3089\u306a\u3044\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u75be\u60a3\u306b\u5bfe\u3057\u3066\u3082\u3001\u65b0\u3057\u3044\u5207\u308a\u53e3\u3067\u6cbb\u7642\u3092\u8003\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u305f\u3068\u3048\u3070\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30d5\u30a7\u30cb\u30eb\u30b1\u30c8\u30f3\u5c3f\u75c7\uff08PKU\uff09<\/strong>\u3067\u306f\u3001\u30d5\u30a7\u30cb\u30eb\u30a2\u30e9\u30cb\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u3092\u5206\u89e3\u3067\u304d\u306a\u3044\u3053\u3068\u304c\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002\u65e9\u671f\u306b\u98df\u4e8b\u7642\u6cd5\u3092\u958b\u59cb\u3059\u308c\u3070\u3001\u91cd\u5ea6\u306eID\u3092\u307b\u307c\u5b8c\u5168\u306b\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>Arboleda\u2013Tham\u75c7\u5019\u7fa4<\/strong>\u306f\u3001KAT6A\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u30d2\u30b9\u30c8\u30f3\u306e\u30a2\u30bb\u30c1\u30eb\u5316\uff08\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u3092\u8abf\u7bc0\u3059\u308b\u4ed5\u7d44\u307f\uff09\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u5b9f\u9a13\u5ba4\u30ec\u30d9\u30eb\u3067\u306f\u3001\u30d1\u30f3\u30c6\u30c8\u30f3\u9178\u3084L-\u30ab\u30eb\u30cb\u30c1\u30f3\u306a\u3069\u306e\u88dc\u52a9\u56e0\u5b50\u3092\u4f7f\u3063\u3066\u30d2\u30b9\u30c8\u30f3\u306e\u50cd\u304d\u3092\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u30cf\u30f3\u30bf\u30fc\u75c7\u5019\u7fa4\uff08MPSII\uff09<\/strong>\u3067\u306f\u3001\u9175\u7d20\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u305f\u3081\u306b\u4e0d\u8981\u306a\u7269\u8cea\uff08\u30b0\u30ea\u30b3\u30b5\u30df\u30ce\u30b0\u30ea\u30ab\u30f3\uff09\u304c\u8133\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff09\u3067\u306f\u4e2d\u67a2\u795e\u7d4c\u3078\u306e\u52b9\u679c\u304c\u9650\u5b9a\u7684\u3067\u3059\u304c\u3001\u9ac4\u6db2\u3078\u306e\u76f4\u63a5\u6295\u4e0e\u3084\u907a\u4f1d\u5b50\u6cbb\u7642\u306e\u8a66\u307f\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<br><\/li>\n\n\n\n<li><strong>\u8106\u5f31X\u75c7\u5019\u7fa4\uff08Fragile X Syndrome\uff09<\/strong>\u306f\u3001FMR1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u6a5f\u80fd\u3057\u306a\u3044\u3053\u3068\u3067\u30b7\u30ca\u30d7\u30b9\uff08\u795e\u7d4c\u63a5\u7d9a\uff09\u306e\u8abf\u7bc0\u304c\u904e\u5270\u306b\u306a\u308a\u3001\u767a\u9054\u3084\u884c\u52d5\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u3001mGluR5\u62ee\u6297\u85ac\u3084GABA\u4f5c\u52d5\u85ac\u3001PI3K\u7d4c\u8def\u3092\u8abf\u7bc0\u3059\u308b\u85ac\u5264\u3001\u3055\u3089\u306b\u306f\u30e1\u30c8\u30db\u30eb\u30df\u30f3\u306a\u3069\u306e\u65e2\u5b58\u85ac\u304c\u7814\u7a76\u5bfe\u8c61\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<br><\/li>\n<\/ol>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3059\u3079\u3066\u3001\u300c\u3069\u306e\u3088\u3046\u306b\u7570\u5e38\u304c\u8d77\u304d\u3066\u3044\u308b\u306e\u304b\u300d\u3092\u7406\u89e3\u3057\u305f\u4e0a\u3067\u3001\u305d\u306e\u4ed5\u7d44\u307f\u306b\u76f4\u63a5\u50cd\u304d\u304b\u3051\u308b\u6cbb\u7642\u3092\u76ee\u6307\u3059\u3068\u3044\u3046\u5171\u901a\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u307e\u3060\u81e8\u5e8a\u8a66\u9a13\u306e\u6bb5\u968e\u306e\u3082\u306e\u3082\u591a\u304f\u3042\u308a\u307e\u3059\u304c\u3001\u6a5f\u80fd\u306e\u4e00\u90e8\u3092\u53d6\u308a\u623b\u3059\u3053\u3068\u304c\u3067\u304d\u308b\u304b\u3082\u3057\u308c\u306a\u3044\u3001\u3068\u3044\u3046\u73fe\u5b9f\u7684\u306a\u5e0c\u671b\u3092\u79c1\u305f\u3061\u306b\u4e0e\u3048\u3066\u304f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BC%E6%8B%A0%E3%81%A8%E3%82%A2%E3%82%AF%E3%82%BB%E3%82%B9%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E8%AA%B2%E9%A1%8C_Challenges_in_Evidence_and_Access\"><\/span><strong>\u8a3c\u62e0\u3068\u30a2\u30af\u30bb\u30b9\u306b\u304a\u3051\u308b\u8ab2\u984c | Challenges in Evidence and Access<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u304c\u5e83\u304c\u308b\u4e00\u65b9\u3067\u3001\u73fe\u6642\u70b9\u3067\u306f\u307e\u3060\u3044\u304f\u3064\u304b\u306e\u91cd\u8981\u306a\u8ab2\u984c\u3082\u6b8b\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001\u6cbb\u7642\u306e\u52b9\u679c\u3092\u88cf\u3065\u3051\u308b\u8a3c\u62e0\uff08\u30a8\u30d3\u30c7\u30f3\u30b9\uff09\u306e\u8cea\u3068\u3001\u6cbb\u7642\u3084\u691c\u67fb\u3078\u306e\u30a2\u30af\u30bb\u30b9\u306e\u5e73\u7b49\u6027\u306f\u3001\u4eca\u5f8c\u306e\u5927\u304d\u306a\u7126\u70b9\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u73fe\u6642\u70b9\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6cbb\u7642\u306e\u591a\u304f\u306f\u3001\u75c7\u4f8b\u5831\u544a\u3084\u5c0f\u898f\u6a21\u306a\u7814\u7a76\uff08\u30a8\u30d3\u30c7\u30f3\u30b9\u30ec\u30d9\u30eb4\uff5e5\uff09\u306b\u57fa\u3065\u3044\u3066\u3044\u307e\u3059\u3002\u5927\u898f\u6a21\u306a\u7121\u4f5c\u70ba\u5316\u6bd4\u8f03\u8a66\u9a13\uff08RCT\uff09\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u304a\u308a\u3001\u3055\u3089\u306b\u3001\u6cbb\u7642\u52b9\u679c\u3092\u5ba2\u89b3\u7684\u306b\u6e2c\u5b9a\u3059\u308b\u305f\u3081\u306e\u6a19\u6e96\u7684\u306a\u6307\u6a19\uff08\u30a2\u30a6\u30c8\u30ab\u30e0\uff09\u3082\u5341\u5206\u306b\u6574\u5099\u3055\u308c\u3066\u3044\u306a\u3044\u306e\u304c\u73fe\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u533b\u7642\u306e\u73fe\u5834\u3067\u306f\u56fd\u3084\u5730\u57df\u306b\u3088\u3063\u3066\u691c\u67fb\u3084\u6cbb\u7642\u3078\u306e\u30a2\u30af\u30bb\u30b9\u306b\u5927\u304d\u306a\u5dee\u304c\u3042\u308b\u3053\u3068\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306e\u3088\u3046\u306a\u5148\u9032\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306f\u3001\u533b\u7642\u4fdd\u967a\u306e\u5236\u5ea6\u3084\u65bd\u8a2d\u306e\u8a2d\u5099\u306b\u3088\u3063\u3066\u306f\u53d7\u3051\u3089\u308c\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u4fdd\u967a\u9069\u7528\u306e\u6761\u4ef6\u304c\u53b3\u3057\u304b\u3063\u305f\u308a\u3001\u691c\u67fb\u3092\u4f9d\u983c\u3067\u304d\u308b\u5c02\u9580\u6a5f\u95a2\u304c\u8fd1\u304f\u306b\u306a\u3044\u3068\u3044\u3046\u7406\u7531\u3067\u3001\u5fc5\u8981\u306a\u8a3a\u65ad\u304c\u9045\u308c\u3066\u3057\u307e\u3046\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u691c\u67fb\u306b\u3088\u3063\u3066\u898b\u3064\u304b\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306e\u4e2d\u306b\u306f\u3001\u300c\u610f\u5473\u304c\u307e\u3060\u3088\u304f\u308f\u304b\u3089\u306a\u3044\u5909\u7570\uff08VUS\uff1a\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\uff09\u300d\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u3046\u3057\u305f\u7d50\u679c\u3092\u3069\u3046\u89e3\u91c8\u3059\u308b\u304b\u306f\u3001\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306e\u5224\u65ad\u306b\u59d4\u306d\u3089\u308c\u307e\u3059\u304c\u3001\u77e5\u8b58\u304c\u66f4\u65b0\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u6570\u5e74\u5f8c\u306b\u306f\u300c\u75c5\u6c17\u306e\u539f\u56e0\u300d\u3068\u8a8d\u5b9a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u4e00\u5ea6\u306e\u691c\u67fb\u3067\u300c\u7570\u5e38\u306a\u3057\u300d\u3068\u3055\u308c\u3066\u3082\u3001\u518d\u8a55\u4fa1\uff08\u30ea\u30a2\u30ca\u30ea\u30b7\u30b9\uff09\u304c\u91cd\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u80cc\u666f\u304b\u3089\u3001\u5358\u306b\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3060\u3051\u3067\u306a\u304f\u3001\u305d\u306e\u7d50\u679c\u3092\u3069\u306e\u3088\u3046\u306b\u89e3\u91c8\u3057\u3001\u6b21\u306e\u884c\u52d5\u306b\u3064\u306a\u3052\u308b\u304b\u304c\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002\u305d\u3057\u3066\u4f55\u3088\u308a\u3082\u3001\u300c\u691c\u67fb\u3084\u6cbb\u7642\u306b\u305f\u3069\u308a\u7740\u3051\u308b\u30c1\u30e3\u30f3\u30b9\u304c\u3059\u3079\u3066\u306e\u3054\u5bb6\u5ead\u306b\u5e73\u7b49\u306b\u4e0e\u3048\u3089\u308c\u308b\u3053\u3068\u300d\u304c\u3001\u4eca\u5f8c\u306e\u533b\u7642\u306e\u3042\u308b\u3079\u304d\u59ff\u3060\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9F%A5%E7%9A%84%E9%9A%9C%E5%AE%B3%E3%82%92%E8%A6%8B%E7%9B%B4%E3%81%99%EF%BC%9A%E4%BB%8B%E5%85%A5%E5%8F%AF%E8%83%BD%E3%81%AA%E7%8A%B6%E6%85%8B%E3%81%A8%E3%81%97%E3%81%A6%E3%81%AE%E6%96%B0%E3%81%9F%E3%81%AA%E6%8D%89%E3%81%88%E6%96%B9_A_Shift_in_Paradigm_Toward_Treatability\"><\/span><strong>\u77e5\u7684\u969c\u5bb3\u3092\u898b\u76f4\u3059\uff1a\u4ecb\u5165\u53ef\u80fd\u306a\u72b6\u614b\u3068\u3057\u3066\u306e\u65b0\u305f\u306a\u6349\u3048\u65b9 | A Shift in Paradigm: Toward Treatability<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u7814\u7a76\u3084\u81e8\u5e8a\u306e\u7a4d\u307f\u91cd\u306d\u304b\u3089\u3001\u8fd1\u5e74\u3067\u306f\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u300d\u3068\u3044\u3046\u72b6\u614b\u305d\u306e\u3082\u306e\u3092\u898b\u76f4\u3059\u52d5\u304d\u304c\u59cb\u307e\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u3001\u300c\u4e00\u751f\u5909\u308f\u3089\u306a\u3044\u3082\u306e\u300d\u300c\u53d7\u3051\u5165\u308c\u308b\u3057\u304b\u306a\u3044\u3082\u306e\u300d\u3068\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u304b\u3063\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u73fe\u5728\u3067\u306f\u305d\u306e\u4e00\u90e8\u304c\u3001\u9069\u5207\u306a\u6642\u671f\u306b\u3001\u9069\u5207\u306a\u6cbb\u7642\u3084\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u3067\u3001\u6539\u5584\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u72b6\u614b\uff08treatable condition\uff09\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u8003\u3048\u65b9\u306e\u8ee2\u63db\u306b\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u91cd\u8981\u306a\u8981\u7d20\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u3001\u300c\u3067\u304d\u308b\u3060\u3051\u65e9\u304f\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u300d\u304c\u4f55\u3088\u308a\u5927\u5207\u3067\u3059\u3002\u8133\u306e\u767a\u9054\u306f\u3001\u4e73\u5e7c\u5150\u671f\u306b\u7279\u306b\u5927\u304d\u306a\u5909\u5316\u3092\u9042\u3052\u308b\u305f\u3081\u3001\u3053\u306e\u6642\u671f\u306b\u6cbb\u7642\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u5f8c\u306e\u5b66\u7fd2\u3084\u751f\u6d3b\u3078\u306e\u5f71\u97ff\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u591a\u304f\u306eID\u306f\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u300c\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff08monogenic disorder\uff09\u300d\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3001\u305d\u308c\u305e\u308c\u306e\u75c5\u614b\u306b\u5fdc\u3058\u305f\u7cbe\u5bc6\u306a\u6cbb\u7642\uff08precision medicine\uff09\u3092\u884c\u3046\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u305f\u3068\u3048\u75be\u60a3\u306e\u7a2e\u985e\u304c\u7570\u306a\u3063\u3066\u3044\u3066\u3082\u3001\u7d30\u80de\u306e\u4e2d\u3067\u5171\u901a\u306e\u7d4c\u8def\uff08\u305f\u3068\u3048\u3070mTOR\u3084PI3K-Akt\u306a\u3069\uff09\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u305d\u3046\u3057\u305f\u5171\u901a\u7d4c\u8def\u3092\u6a19\u7684\u3068\u3057\u305f\u6cbb\u7642\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001\u65e2\u5b58\u306e\u85ac\u3092\u5225\u306e\u76ee\u7684\u3067\u6d3b\u7528\u3059\u308b\u300c\u30c9\u30e9\u30c3\u30b0\u30ea\u30dd\u30b8\u30b7\u30e7\u30cb\u30f3\u30b0\uff08drug repurposing\uff09\u300d\u3068\u3044\u3046\u65b9\u6cd5\u3082\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u7cd6\u5c3f\u75c5\u6cbb\u7642\u85ac\u3067\u3042\u308b\u30e1\u30c8\u30db\u30eb\u30df\u30f3\u3084\u3001\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u4e00\u90e8\u304c\u3001\u7279\u5b9a\u306eID\u306e\u75c5\u614b\u306b\u5bfe\u3057\u3066\u6709\u52b9\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u7814\u7a76\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u77e5\u898b\u306e\u5e83\u304c\u308a\u306f\u3001\u5358\u306a\u308b\u7406\u60f3\u8ad6\u3067\u306f\u306a\u304f\u3001\u5b9f\u969b\u306e\u533b\u5b66\u7814\u7a76\u3084\u81e8\u5e8a\u8a66\u9a13\u306b\u3088\u3063\u3066\u5c11\u3057\u305a\u3064\u73fe\u5b9f\u306e\u3082\u306e\u306b\u306a\u308a\u3064\u3064\u3042\u308b\u300c\u5e0c\u671b\u300d\u3060\u3068\u3044\u3048\u307e\u3059\u3002\u305d\u3057\u3066\u3053\u306e\u5e0c\u671b\u306f\u3001\u75be\u60a3\u3092\u6301\u3064\u3054\u672c\u4eba\u3060\u3051\u3067\u306a\u304f\u3001\u65e5\u3005\u652f\u3048\u3066\u3044\u308b\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3082\u3001\u672a\u6765\u3092\u898b\u901a\u3059\u305f\u3081\u306e\u5927\u5207\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u306e\u3067\u306f\u306a\u3044\u3067\u3057\u3087\u3046\u304b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%8A%E3%82%8F%E3%82%8A%E3%81%AB%EF%BC%9A%E5%B8%8C%E6%9C%9B%E3%81%A8%E8%B2%AC%E4%BB%BB%E3%81%AE%E4%B8%A1%E7%AB%8B%E3%82%92%E3%82%81%E3%81%96%E3%81%97%E3%81%A6_Conclusion_Balancing_Hope_and_Responsibility\"><\/span><strong>\u304a\u308f\u308a\u306b\uff1a\u5e0c\u671b\u3068\u8cac\u4efb\u306e\u4e21\u7acb\u3092\u3081\u3056\u3057\u3066 | Conclusion: Balancing Hope and Responsibility<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u53d6\u308a\u5dfb\u304f\u533b\u7642\u3068\u7814\u7a76\u306e\u4e16\u754c\u306f\u3001\u4eca\u307e\u3055\u306b\u5927\u304d\u306a\u8ee2\u63db\u671f\u3092\u8fce\u3048\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u300c\u6cbb\u3089\u306a\u3044\u300d\u3068\u3055\u308c\u3066\u304d\u305f\u72b6\u614b\u306e\u4e2d\u306b\u3082\u3001\u539f\u56e0\u3092\u7279\u5b9a\u3057\u3001\u9069\u5207\u306a\u6cbb\u7642\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u6539\u5584\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u30b1\u30fc\u30b9\u304c\u78ba\u304b\u306b\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3061\u308d\u3093\u3001\u3059\u3079\u3066\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u5b8c\u5168\u306b\u56de\u5fa9\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u73fe\u6bb5\u968e\u3067\u306f\u307e\u3060\u8a66\u9a13\u7684\u306a\u6bb5\u968e\u306b\u3042\u308b\u6cbb\u7642\u6cd5\u3084\u3001\u9650\u3089\u308c\u305f\u65bd\u8a2d\u3067\u3057\u304b\u53d7\u3051\u3089\u308c\u306a\u3044\u691c\u67fb\u3082\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u904e\u5ea6\u306a\u671f\u5f85\u3067\u306f\u306a\u304f\u3001\u300c\u3069\u306e\u3088\u3046\u306a\u9078\u629e\u80a2\u304c\u3042\u308b\u306e\u304b\u3092\u6b63\u3057\u304f\u77e5\u3063\u305f\u4e0a\u3067\u3001\u4e00\u3064\u3072\u3068\u3064\u3067\u304d\u308b\u3053\u3068\u3092\u7a4d\u307f\u91cd\u306d\u3066\u3044\u304f\u300d\u3068\u3044\u3046\u59ff\u52e2\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u3046\u3057\u305f\u72b6\u6cc1\u306e\u4e2d\u3067\u3001\u79c1\u305f\u3061\u533b\u7642\u8005\u3084\u7814\u7a76\u8005\u306b\u6c42\u3081\u3089\u308c\u3066\u3044\u308b\u306e\u306f\u3001\u3054\u5bb6\u65cf\u3068\u3068\u3082\u306b\u73fe\u5b9f\u3092\u898b\u3064\u3081\u306a\u304c\u3089\u3082\u3001\u308f\u305a\u304b\u3067\u3082\u524d\u9032\u3067\u304d\u308b\u9053\u3092\u4e00\u7dd2\u306b\u63a2\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002\u305d\u3057\u3066\u3001\u79d1\u5b66\u7684\u306a\u9032\u6b69\u304c\u4e00\u90e8\u306e\u4eba\u3060\u3051\u3067\u306a\u304f\u3001\u5fc5\u8981\u3068\u3059\u308b\u3059\u3079\u3066\u306e\u65b9\u306b\u5c4a\u304f\u3088\u3046\u306b\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u5236\u5ea6\u7684\u306a\u6574\u5099\u3084\u56fd\u969b\u7684\u306a\u5354\u529b\u3082\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u6cbb\u308b\u304b\u3069\u3046\u304b\u300d\u3060\u3051\u3067\u306f\u306a\u304f\u3001\u300c\u5c11\u3057\u3067\u3082\u751f\u6d3b\u304c\u3057\u3084\u3059\u304f\u306a\u308b\u3053\u3068\u300d\u300c\u3067\u304d\u308b\u3053\u3068\u304c\u4e00\u3064\u3067\u3082\u5897\u3048\u308b\u3053\u3068\u300d\u306f\u3001\u3054\u672c\u4eba\u3068\u3054\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u308b\u3046\u3048\u3067\u3001\u975e\u5e38\u306b\u5927\u304d\u306a\u610f\u5473\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79d1\u5b66\u304c\u5207\u308a\u958b\u304f\u672a\u6765\u306f\u3001\u305f\u3060\u306e\u5e0c\u671b\u3067\u306f\u306a\u304f\u3001\u300c\u6839\u62e0\u306e\u3042\u308b\u5e0c\u671b\uff08evidence-based hope\uff09\u300d\u3067\u3059\u3002\u3053\u308c\u304b\u3089\u3082\u3001\u305d\u306e\u5e0c\u671b\u304c\u3088\u308a\u591a\u304f\u306e\u3054\u5bb6\u65cf\u306b\u5c4a\u304f\u3088\u3046\u3001\u79c1\u305f\u3061\u306f\u5171\u306b\u6b69\u3093\u3067\u307e\u3044\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01727-2\">Hoytema van Konijnenburg, E.M.M., Wortmann, S.B., Koelewijn, M. et al. Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app. Orphanet J Rare Dis 16, 170 (2021). https:\/\/doi.org\/10.1186\/s13023-021-01727-2<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ymgme.2011.11.191\">Van Karnebeek, Clara D. M., and Sylvia Stockler. \u2018Treatable Inborn Errors of Metabolism Causing Intellectual Disability: A Systematic Literature Review\u2019. Molecular Genetics and Metabolism, vol. 105, no. 3, Mar. 2012, pp. 368\u201381. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.ymgme.2011.11.191<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2021.526779  Patel, Dilip R., et al. \u2018A Clinical Primer on Intellectual\">Savatt, Juliann M., and Scott M. Myers. \u2018Genetic Testing in Neurodevelopmental Disorders\u2019. Frontiers in Pediatrics, vol. 9, Feb. 2021, p. 526779. DOI.org (Crossref), https:\/\/doi.org\/10.3389\/fped.2021.526779<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.21037\/tp.2020.02.02\">Patel, Dilip R., et al. \u2018A Clinical Primer on Intellectual Disability\u2019. Translational Pediatrics, vol. 9, no. S1, Feb. 2020, pp. S23\u201335. DOI.org (Crossref), https:\/\/doi.org\/10.21037\/tp.2020.02.02<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/jpc.16598\">Donoghue, Sarah E., and David J. Amor. \u2018Intellectual Disability: A Potentially Treatable Condition\u2019. Journal of Paediatrics and Child Health, vol. 60, no. 7, Jul. 2024, pp. 273\u201378. DOI.org (Crossref), https:\/\/doi.org\/10.1111\/jpc.16598<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:21px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\uff11\u3000\u3000\u5358\u4e00\u907a\u4f1d\u5b50\u75be\u60a3\uff08Monogenic Disorder\uff09<\/strong><\/p>\n\n\n\n<p>1\u3064\u306e\u907a\u4f1d\u5b50\u306b\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u3042\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u4e2d\u306b\u306f\u3001\u3053\u306e\u30bf\u30a4\u30d7\u306b\u5f53\u3066\u306f\u307e\u308b\u3082\u306e\u304c\u3042\u308a\u3001\u65e9\u304f\u898b\u3064\u3051\u308c\u3070\u6cbb\u7642\u306e\u53ef\u80fd\u6027\u304c\u3042\u308b\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff12\u3000\u3000\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\uff08Inborn Errors of Metabolism\uff1aIEMs\uff09<\/strong><\/p>\n\n\n\n<p>\u4f53\u306e\u4e2d\u3067\u98df\u3079\u7269\u3084\u5316\u5b66\u7269\u8cea\u3092\u3046\u307e\u304f\u51e6\u7406\u3067\u304d\u306a\u3044\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u5225\u306a\u98df\u4e8b\u3084\u85ac\u3067\u6539\u5584\u3059\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff13\u3000\u3000\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08Exome Sequencing\uff1aES\uff09<\/strong><\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u7279\u306b\u91cd\u8981\u306a\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u306e\u9045\u308c\u306e\u539f\u56e0\u304c\u907a\u4f1d\u5b50\u306b\u3042\u308b\u304b\u3092\u8abf\u3079\u308b\u306e\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff14\u3000\u3000\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08Chromosomal Microarray\uff1aCMA\uff09<\/strong><\/p>\n\n\n\n<p>\u67d3\u8272\u4f53\u306b\u5c0f\u3055\u306a\u6b20\u3051\u3084\u91cd\u306a\u308a\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u304c\u3001\u767a\u9054\u3084\u884c\u52d5\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff15\u3000\u3000FMR1\u907a\u4f1d\u5b50\uff0f\u8106\u5f31X\u75c7\u5019\u7fa4\uff08Fragile X Syndrome\uff09<\/strong><\/p>\n\n\n\n<p>FMR1\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306e\u4e00\u3064\u3067\u3059\u3002\u7537\u306e\u5b50\u306b\u591a\u304f\u3001\u7279\u5fb4\u7684\u306a\u884c\u52d5\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u5c02\u7528\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u8a3a\u65ad\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff16\u3000\u3000\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08Enzyme Replacement Therapy\uff1aERT\uff09<\/strong><\/p>\n\n\n\n<p>\u4f53\u306e\u4e2d\u3067\u4e0d\u8db3\u3057\u3066\u3044\u308b\u9175\u7d20\uff08\u4f53\u306e\u4e2d\u3067\u5316\u5b66\u53cd\u5fdc\u3092\u52a9\u3051\u308b\u305f\u3093\u3071\u304f\u8cea\uff09\u3092\u5916\u304b\u3089\u88dc\u3046\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u4e00\u90e8\u306e\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u306a\u3069\u3067\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff17\u3000\u3000\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<\/strong><\/p>\n\n\n\n<p>\u7570\u5e38\u306e\u3042\u308b\u907a\u4f1d\u5b50\u3092\u6b63\u3057\u304f\u50cd\u304f\u3088\u3046\u306b\u3059\u308b\u305f\u3081\u306e\u6cbb\u7642\u3067\u3059\u3002\u307e\u3060\u7814\u7a76\u6bb5\u968e\u306e\u3082\u306e\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u7279\u5b9a\u306e\u75c5\u6c17\u3067\u52b9\u679c\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff18\u3000\u3000mTOR\u7d4c\u8def\uff0fPI3K-Akt\u7d4c\u8def<\/strong><\/p>\n\n\n\n<p>\u7d30\u80de\u306e\u4e2d\u3067\u300c\u6210\u9577\u3057\u306a\u3055\u3044\u300d\u300c\u50cd\u304d\u306a\u3055\u3044\u300d\u3068\u3044\u3063\u305f\u547d\u4ee4\u3092\u4f1d\u3048\u308b\u901a\u308a\u9053\uff08\u30b7\u30b0\u30ca\u30eb\u7d4c\u8def\uff09\u3067\u3059\u3002\u3053\u3053\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3092\u6574\u3048\u308b\u85ac\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\uff19\u3000\u3000\u30c9\u30e9\u30c3\u30b0\u30ea\u30dd\u30b8\u30b7\u30e7\u30cb\u30f3\u30b0\uff08Drug 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