{"id":142770,"date":"2023-01-27T01:11:28","date_gmt":"2023-01-27T01:11:28","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e3%82%aa%e3%83%bc%e3%82%b9%e3%83%88%e3%83%a9%e3%83%aa%e3%82%a2%e3%81%ae%e3%83%9e%e3%83%bc%e3%83%89%e3%83%83%e3%82%af%e5%b0%8f%e5%85%90%e7%a0%94%e7%a9%b6%e6%89%80%e3%81%a7%e6%96%b0%e7%94%9f%e5%85%90\/"},"modified":"2026-01-20T06:47:32","modified_gmt":"2026-01-20T06:47:32","slug":"newborn-screening-innovation-ramps-up-at-murdoch-childrens-in-australia","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ja\/disease-area\/rare-diseases\/newborn-screening-innovation-ramps-up-at-murdoch-childrens-in-australia\/","title":{"rendered":"\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u306e\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u7814\u7a76\u6240\u3067\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u9769\u65b0\u304c\u9032\u3080"},"content":{"rendered":"

\u65b0\u751f\u5150\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0(NBS)\u3078\u306e\u95a2\u5fc3\u3068\u6295\u8cc7\u304c\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u5168\u571f\u3067\u9ad8\u307e\u308b\u306b\u3064\u308c\u3066\u3001\u30e1\u30eb\u30dc\u30eb\u30f3\u306e\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u7814\u7a76\u6240\u306f\u3001\u56fd\u5185\u306eNBS\u7814\u7a76\u3068\u30a4\u30ce\u30d9\u30fc\u30b7\u30e7\u30f3\u306e\u91cd\u8981\u306a\u4e2d\u5fc3\u3068\u3057\u3066\u52e2\u3044\u3092\u5897\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

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\u65e2\u5b58\u306eNBS\u30d1\u30cd\u30eb\u306e\u62e1\u5927<\/h2>\n

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VCGS \u306e\u751f\u5316\u5b66\u907a\u4f1d\u5b66\u526f\u90e8\u9577\u3067\u3042\u308b\u30ed\u30f3\u30c0\u30fb\u30b0\u30ea\u30fc\u30d6\u30b9\u535a\u58eb\u306f\u3001\u30d1\u30cd\u30eb\u3092 1 \u3064\u306e\u6761\u4ef6\u3060\u3051\u62e1\u5f35\u3059\u308b\u3060\u3051\u3067\u3082\u304b\u306a\u308a\u306e\u52b4\u529b\u304c\u5fc5\u8981\u3067\u3042\u308b\u3068\u6307\u6458\u3057\u3066\u3044\u307e\u3059\u3002SMA\/SCID\u8a66\u9a13\u3067\u306f\u3001\u521d\u3081\u3066\u5206\u5b50\u6cd5\u3092\u4f7f\u7528\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u304c\u3001Greaves\u6c0f\u306f\u3001\u6280\u8853\u306e\u5b9f\u88c5\u306f\u7c21\u5358\u3060\u3068\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002\u3088\u308a\u96e3\u3057\u3044\u306e\u306f\u3001\u65e2\u5b58\u306eNBS\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u5b8c\u5168\u6027\u3092\u640d\u306a\u3046\u3053\u3068\u306a\u304f\u3001\u5909\u5316\u3059\u308b\u30ef\u30fc\u30af\u30d5\u30ed\u30fc\u306b\u9069\u5fdc\u3059\u308b\u3088\u3046\u306b\u30b9\u30bf\u30c3\u30d5\u3092\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n

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\u65b0\u3057\u3044NBS\u624b\u6cd5\u306e\u958b\u767a\u3068\u691c\u8a3c<\/h2>\n

\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u75c5\u9662\u306f\u3001\u65b0\u3057\u3044 NBS \u30e2\u30c0\u30ea\u30c6\u30a3\u306e\u4f5c\u6210\u3068\u8a55\u4fa1\u306b\u6ce8\u529b\u3059\u308b\u7814\u7a76\u8005\u3082\u652f\u63f4\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7814\u7a76\u8005\u306e\u4e00\u4eba\u306f\u3001\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u75c5\u9662\u306e\u8a3a\u65ad\u30fb\u767a\u9054\u7814\u7a76\u6240\u3092\u7387\u3044\u308b\u5206\u5b50\u907a\u4f1d\u5b66\u8005\u306eDavid Godler\u535a\u58eb\u3067\u3059\u3002Godler\u306f\u73fe\u5728\u3001DNA\u30e1\u30c1\u30eb\u5316\u691c\u67fb\u3068\u30b2\u30ce\u30e0\u30ef\u30fc\u30af\u30d5\u30ed\u30fc\u3092\u7d44\u307f\u5408\u308f\u305b\u3066NBS\u30d1\u30cd\u30eb\u3092\u62e1\u5f35\u3059\u308b\u3001EpiGNs<\/strong>\u3068\u547c\u3070\u308c\u308b\u4f4e\u30b3\u30b9\u30c8\u306e\u8a3a\u65ad\u6cd5\u3092\u958b\u767a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u4ee5\u524d\u306e\u7814\u7a76\u3067\u306f\u3001EpiGNs\u306f\u3001\u8106\u5f31X\u75c7\u5019\u7fa4\u3001Prader\u2013Willi\u75c7\u5019\u7fa4\u3001Angelman\u75c7\u5019\u7fa4\u304a\u3088\u307315q\u91cd\u8907\u75c7\u5019\u7fa4\u306a\u3069\u591a\u304f\u306e\u75be\u60a3\u3092\u30ab\u30d0\u30fc\u3059\u308b\u305f\u3081\u306bNBS\u30d1\u30cd\u30eb\u3092\u62e1\u5927\u3059\u308b\u3001\u8cbb\u7528\u5bfe\u52b9\u679c\u306e\u9ad8\u3044\u65b9\u6cd5\u3068\u3057\u3066\u6709\u671b\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059[2]\u30022022\u5e74\u306bGodler\u306f\u3053\u306e\u7814\u7a76\u3092\u3055\u3089\u306b\u767a\u5c55\u3055\u305b\u308b\u305f\u3081\u306b\u3001\u533b\u7642\u7814\u7a76\u672a\u6765\u57fa\u91d1\uff08MRFF\uff09[3]\u304b\u3089300\u4e07\u30c9\u30eb\u306e\u52a9\u6210\u91d1\u3092\u7372\u5f97\u3057\u3001\u3055\u3089\u306b\u56fd\u7acb\u4fdd\u5065\u533b\u7642\u7814\u7a76\u8a55\u8b70\u4f1a\u306e\u30a2\u30a4\u30c7\u30a2\u52a9\u6210\u91d1\u304b\u3089180\u4e07\u30c9\u30eb\u3092\u7372\u5f97\u3057\u305f[4]\u3002<\/p>\n

\u6b21\u306e\u30b9\u30c6\u30c3\u30d7\u3068\u3057\u3066\u3001Godler\u306f\u3053\u308c\u30892\u4ef6\u306e\u52a9\u6210\u91d1\u3092\u6d3b\u7528\u3057\u30018\u3064\u306e\u75be\u60a3\u3092\u542b\u3080\u62e1\u5f35\u30d1\u30cd\u30eb\u3067EpiGNs\u6cd5\u3092\u691c\u8a3c\u3057\u3001\u305d\u306e\u8cbb\u7528\u5bfe\u52b9\u679c\u3068\u81e8\u5e8a\u7684\u6709\u7528\u6027\u306b\u95a2\u3059\u308b\u3055\u3089\u306a\u308b\u30c7\u30fc\u30bf\u3092\u5f97\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u7814\u7a76\u306e\u4e00\u90e8\u3067\u306fGenV\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u6d3b\u7528\u3057\u3001\u907a\u4f1d\u6027\u75be\u60a3\u306e\u65e9\u671f\u767a\u898b\u304c\u3001\u9577\u671f\u7684\u306a\u81e8\u5e8a\u8ee2\u5e30\u304a\u3088\u3073\u533b\u7642\u7d4c\u6e08\u7684\u30a2\u30a6\u30c8\u30ab\u30e0\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u3092 Godler \u304c\u8a55\u4fa1\u3067\u304d\u308b\u3088\u3046\u306b\u3057\u307e\u3059\u3002<\/p>\n

\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WGS\uff09\u306e\u6709\u7528\u6027\u8a55\u4fa1<\/h2>\n

\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u75c5\u9662\u3067MRFF\u306e\u8cc7\u91d1\u63d0\u4f9b\u3092\u53d7\u3051\u3066\u3044\u308b\u3082\u3046\u4e00\u4eba\u306e\u7814\u7a76\u8005\u304c Seb Lunke\u535a\u58eb\u3067\u3001VCGS\u306e\u907a\u4f1d\u5b66\u30fb\u30b2\u30ce\u30df\u30af\u30b9\u90e8\u9580\u306e\u8cac\u4efb\u8005\u3068\u3057\u3066\u3001\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u6700\u5927\u7d1a\u306e\u81e8\u5e8a\u907a\u4f1d\u5b66\u691c\u67fb\u5ba4\u306e\u4e00\u3064\u3092\u904b\u55b6\u3057\u3066\u3044\u307e\u3059\u3002\u6628\u5e74\u3001Lunke\u306f\u3001NBS\u306b\u304a\u3051\u308b\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WGS\uff09\u306e\u5f79\u5272\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u3001MRFF\u304b\u3089300\u4e07\u8c6a\u30c9\u30eb\u306e\u52a9\u6210\u91d1\u3092\u7372\u5f97\u3057\u307e\u3057\u305f\u3002<\/p>\n

\u3053\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u7b2c1\u6bb5\u968eBabyScreen+<\/strong>\u3067\u306f\u3001Lunke\u304c\u30d3\u30af\u30c8\u30ea\u30a2\u5dde\u306e\u65b0\u751f\u51501,000\u4eba\u3092\u5bfe\u8c61\u306b\u3001NBS\u306eWGS\u30e2\u30c7\u30eb\u3092\u8a66\u9a13\u3057\u307e\u3059\u3002WGS\u306f\u6f5c\u5728\u7684\u306b\u6570\u5343\u7a2e\u985e\u306e\u75be\u60a3\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u3053\u3068\u3092\u53ef\u80fd\u306b\u3057\u307e\u3059\u304c\u3001Lunke\u306f\u3001\u5341\u5206\u306b\u691c\u8a3c\u3055\u308c\u3001\u81e8\u5e8a\u7684\u306b\u4ecb\u5165\u53ef\u80fd\u3067\u3001\u6240\u5b9a\u306e\u751f\u7269\u502b\u7406\u57fa\u6e96\u3092\u6e80\u305f\u3059\u6570\u767e\u306e\u75be\u60a3\u304b\u3089\u958b\u59cb\u3059\u308b\u4e88\u5b9a\u3067\u3059\u3002\u6700\u7d42\u7684\u306a\u76ee\u6a19\u306f\u3001\u51fa\u751f\u6642\u304b\u3089\u751f\u6daf\u306b\u308f\u305f\u308b\u30b1\u30a2\u306e\u904e\u7a0b\u3067\u3001WGS\u30c7\u30fc\u30bf\u3092\u8cac\u4efb\u3042\u308b\u5f62\u3067\u6d3b\u7528\u3059\u308b\u65b9\u6cd5\u3092\u3088\u308a\u3088\u304f\u7406\u89e3\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n

Lunke\u3089\u306f\u3001WGS\u306f\u907a\u4f1d\u6027\u75be\u60a3\u691c\u51fa\u306e\u7279\u52b9\u85ac\u3067\u306f\u306a\u304f\u3001\u5f53\u9762\u306f\u5f93\u6765\u306eNBS\u6cd5\u306b\u53d6\u3063\u3066\u4ee3\u308f\u308b\u3053\u3068\u306f\u306a\u3044\u3068\u5f37\u8abf\u3057\u3066\u3044\u307e\u3059\u3002\u5b9f\u969b\u306b\u306f\u3001\u4e21\u65b9\u306e\u624b\u6cd5\u3092\u4e26\u884c\u3057\u3066\u7528\u3044\u308b\u3053\u3068\u3067\u3001NBS\u691c\u67fb\u5ba4\u306f\u3088\u308a\u5e45\u5e83\u3044\u75be\u60a3\u3092\u3088\u308a\u9ad8\u3044\u7cbe\u5ea6\u3067\u691c\u51fa\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3068\u3001\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u75c5\u9662\u306e\u81e8\u5e8a\u907a\u4f1d\u5b66\u8005\u3067\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u30ea\u30fc\u30c0\u30fc\u3067\u3042\u308a\u3001EpiGNs \u3068 WGS \u306e\u4e21\u52a9\u6210\u7814\u7a76\u3067\u5171\u540c\u7814\u7a76\u8005\u3092\u52d9\u3081\u308bDavid Amor\u535a\u58eb \u306f\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u5e0c\u5c11\u75be\u60a3\u8a3a\u65ad\u306e\u305f\u3081\u306e\u3001\u3088\u308a\u5e83\u7bc4\u306a\u30a8\u30b3\u30b7\u30b9\u30c6\u30e0\u306e\u69cb\u7bc9<\/h2>\n

NBS\u3092\u8d85\u3048\u3066\u3001\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u75c5\u9662\u3068VCGS\u306f\u3001\u907a\u4f1d\u6027\u75be\u60a3\u306e\u65e9\u671f\u8fc5\u901f\u306a\u691c\u51fa\u3092\u5bb9\u6613\u306b\u3059\u308b\u5e45\u5e83\u3044\u5e0c\u5c11\u75be\u60a3\u8a3a\u65ad\u306e\u6539\u5584\u3092\u63a8\u9032\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3001\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u691c\u67fb\u3001\u6025\u6027\u671f\u533b\u7642\u306b\u304a\u3051\u308b\u30b2\u30ce\u30df\u30af\u30b9\u306a\u3069\u306e\u53d6\u308a\u7d44\u307f\u304c\u542b\u307e\u308c\u307e\u3059\uff08\u5f7c\u3089\u306f\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u3067\u6700\u3082\u8fc5\u901f\u306a\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30b5\u30fc\u30d3\u30b9\u3092\u63d0\u4f9b\u3059\u308b\u6a5f\u95a2\u306e\u4e00\u3064\u3067\u3059\uff09\u3002<\/p>\n

\u3053\u308c\u3089\u306e\u5206\u91ce\u306e\u9032\u6b69\u306f\u3001NBS\u306e\u5c06\u6765\u3092\u5f62\u4f5c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u304c\u3053\u306e\u30a8\u30ad\u30b5\u30a4\u30c6\u30a3\u30f3\u30b0\u306a\u5206\u91ce\u3067\u7814\u7a76\u3068\u30a4\u30ce\u30d9\u30fc\u30b7\u30e7\u30f3\u3092\u63a8\u9032\u3057\u7d9a\u3051\u308b\u306a\u304b\u3001\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u75c5\u9662\u3068 VCGS \u306f\u3001\u7279\u306b\u6ce8\u76ee\u3059\u3079\u304d\u5b58\u5728\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n

\u3053\u306e\u8a18\u4e8b\u306f\u3001\u30ed\u30b7\u30e5\u30c0\u30a4\u30a2\u30b0\u30ce\u30b9\u30c6\u30a3\u30c3\u30af\u30b9\u30a2\u30b8\u30a2\u592a\u5e73\u6d0b\u5730\u57df\u306e\u30d8\u30eb\u30b9\u30b1\u30a2\u30a8\u30f3\u30b2\u30fc\u30b8\u30e1\u30f3\u30c8\u30de\u30cd\u30fc\u30b8\u30e3\u30fc\u3067\u3042\u308a\u3001\u6559\u80b2\u30b3\u30f3\u30c6\u30f3\u30c4\u3068\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u69cb\u7bc9\u3092\u901a\u3058\u3066NBS\u306e\u30d9\u30b9\u30c8\u30d7\u30e9\u30af\u30c6\u30a3\u30b9\u3092\u63a8\u9032\u3059\u308b\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\u3067\u3042\u308b\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u30b9\u30c8\u30ed\u30f3\u30b0\u30dc\u30a6\u306e\u5171\u540c\u30ea\u30fc\u30c0\u30fc\u3067\u3042\u308bWill Greene\u306b\u3088\u3063\u3066\u66f8\u304b\u308c\u307e\u3057\u305f\u3002\u3053\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u4e00\u90e8\u3068\u3057\u3066\u5236\u4f5c\u3055\u308c\u305f\u4ed6\u306e\u8a18\u4e8b\u3084\u30d3\u30c7\u30aa\u306f\u3001\u79c1\u305f\u3061\u306e\u300c\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u300d\u30da\u30fc\u30b8\u306b\u3042\u308a\u307e\u3059\u3002\u00a0<\/a><\/em><\/p>\n

\u53c2\u8003\u6587\u732e\uff1a<\/em><\/p>\n

\n[1] <\/a>Generation Victoria.\u53c2\u7167\u5148\u00a0\uff1ahttps:\/\/www.genv.org.au\/
\n[2] <\/a>\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b15q\u67d3\u8272\u4f53\u7570\u5e38\u3092\u542b\u3081\u308b\u3079\u304d\u304b\uff1fLab Insights.<\/em> \u53c2\u7167\u5148\uff1ahttps:\/\/labinsights.com\/disease-area\/newborn-screening\/should-newborn-screening-include-chromosome-15q-disorders\/
\n[3]<\/a>\u5b50\u30b2\u30ce\u30df\u30af\u30b9\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3078\u306e\u9023\u90a6\u52a9\u6210\u91d1\uff082022\u5e749\u6708\uff09\u3002\u00a0\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u7814\u7a76\u6240\u3002<\/em> \u53c2\u7167\u5148\uff1ahttps:\/\/www.mcri.edu.au\/news-stories\/federal-funding-for-genomics-projects-aiming-to-improve-child-health
\n[4]<\/a>\u5c0f\u5150\u671f\u75be\u60a3\u306e\u65e9\u671f\u8a3a\u65ad\u3068\u6cbb\u7642\u3092\u63a8\u9032\u3059\u308b\u305f\u3081\u306e\u9023\u90a6\u653f\u5e9c\u52a9\u6210\u91d1\uff082022\u5e7412\u6708\uff09\u3002\u00a0\u30de\u30fc\u30c9\u30c3\u30af\u5c0f\u5150\u7814\u7a76\u6240\u3002 <\/em>https:\/\/www.mcri.edu.au\/news-stories\/federal-grants-advance-diagnosis-treatments-childhood-conditions<\/p>\n","protected":false},"excerpt":{"rendered":"

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