{"id":142799,"date":"2024-05-24T02:05:27","date_gmt":"2024-05-24T02:05:27","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e9%9f%93%e5%9b%bd%e3%81%ae%e5%b8%8c%e5%b0%91%e7%96%be%e7%97%85%e8%a8%ba%e6%96%ad%e3%81%ae%e6%94%b9%e5%96%84%ef%bc%9aprof-jong-hee-chae%e3%81%b8%e3%81%ae%e3%82%b9%e3%83%9d%e3%83%83%e3%83%88%e3%83%a9\/"},"modified":"2026-01-20T09:02:15","modified_gmt":"2026-01-20T09:02:15","slug":"improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ja\/disease-area\/rare-diseases\/improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae\/","title":{"rendered":"\u97d3\u56fd\u306e\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306e\u6539\u5584\uff1aProf Jong-Hee Chae\u3078\u306e\u30b9\u30dd\u30c3\u30c8\u30e9\u30a4\u30c8"},"content":{"rendered":"

\u307e\u308c\u306a\u907a\u4f1d\u5b50\u75be\u60a3\u306b\u95a2\u3059\u308b\u97d3\u56fd\u306e\u30c8\u30c3\u30d7\u30a8\u30ad\u30b9\u30d1\u30fc\u30c8\u306e\u4e00\u4eba\u3068\u3057\u3066\u5e83\u304f\u8a8d\u8b58\u3055\u308c\u3066\u3044\u308b\u540c\u6c0f\u306f\u3001Seoul National University Hospital\uff08SNUH\uff09<\/a>\u3067\u3001\u81e8\u5e8a\u30b2\u30ce\u30e0\u533b\u5b66\u5c02\u653b\u306e\u6559\u6388\u3068\u3001\u540c\u56fd\u3092\u4ee3\u8868\u3059\u308b\u5b66\u8853\u7684\u533b\u7642\u6a5f\u95a2\u306e1\u3064\u3067\u3042\u308b\u5e0c\u5c11\u75be\u60a3\u30bb\u30f3\u30bf\u30fc\u306e\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u3092\u52d9\u3081<\/a>\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u540c\u6c0f\u306f\u591a\u304f\u306e\u8cac\u4efb\u306e\u4e2d\u3067\u3001\u97d3\u56fd\u306b\u304a\u3051\u308b\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306e\u6539\u5584\u3092\u76ee\u7684\u3068\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u91cd\u8981\u306a\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3067\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002Lab Insights\u3068\u306e\u6700\u8fd1\u306e\u30c7\u30a3\u30b9\u30ab\u30c3\u30b7\u30e7\u30f3\u3067\u3001\u540c\u6c0f\u306f\u81ea\u5206\u306e\u7814\u7a76\u306b\u95a2\u3059\u308b\u6700\u65b0\u60c5\u5831\u3068\u3001\u60a3\u8005\u306e\u8a3a\u65ad\u671f\u9593\u3092\u77ed\u7e2e\u3059\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u3053\u3068\u306b\u3064\u3044\u3066\u306e\u8003\u5bdf\u3092\u5171\u6709\u3057\u307e\u3057\u305f\u3002<\/p>\n

SNUH Rare Disease Center\u3067\u306e\u81e8\u5e8a\u8a3a\u65ad<\/h2>\n

2010\u5e74\u306b\u8a2d\u7acb\u3055\u308c\u305fSNUH Rare Disease Center\u306f\u3001\u97d3\u56fd\u3067\u6700\u521d\u306e\u5e0c\u5c11\u75be\u75c5\u60a3\u8005\u306e\u305f\u3081\u306e\u96c6\u5b66\u7684\u7d71\u5408\u533b\u7642\u30b7\u30b9\u30c6\u30e0\u3068\u3057\u3066\u4f4d\u7f6e\u4ed8\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002Prof Chae\u306f\u30bb\u30f3\u30bf\u30fc\u9577\u3068\u3057\u3066\u3001\u5c0f\u5150\u304a\u3088\u3073\u6210\u4eba\u60a3\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f70\u3092\u8d85\u3048\u308b\u500b\u5225\u306e\u30af\u30ea\u30cb\u30c3\u30af\u3092\u7d71\u62ec\u3057\u3066\u3044\u307e\u3059\uff08\u5c0f\u5150\u795e\u7d4c\u79d1\u533b\u3068\u3057\u3066\u3082\u6d3b\u52d5\u3057\u3001SNUH Children\u2019s Hospital\u306b\u3066\u60a3\u8005\u3092\u8a3a\u5bdf\uff09\u3002<\/p>\n

SNUH Rare Disease Center\u306f\u3001\u8a3a\u65ad\u3092\u53d7\u3051\u3066\u3044\u306a\u3044\u60a3\u8005\u306b\u5bfe\u3057\u3001\u97d3\u56fd\u3067\u6700\u3082\u9ad8\u5ea6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u5168\u56fd\u306e\u307b\u3068\u3093\u3069\u306e\u5c0f\u5150\u75c5\u9662\u306f\u3001\u5e02\u8ca9\u306eNGS\u30d1\u30cd\u30eb\u3084\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u306a\u3069\u306e\u65e5\u5e38\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3046\u80fd\u529b\u304c\u3042\u308a\u307e\u3059\u304c\u3001SNUH\u306f\u6700\u3082\u8907\u96d1\u3067\u56f0\u96e3\u306a\u75c7\u4f8b\u3092\u5f15\u304d\u53d7\u3051\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n

SNUH Rare Disease Center\u306e\u4e3b\u306a\u91cd\u70b9\u5206\u91ce\u306f\u3001\u75c7\u5019\u6027\u60a3\u8005\u306e\u8fc5\u901f\u306a\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3067\u3059\u3002\u6570\u30ab\u6708\u304b\u304b\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308b\u901a\u5e38\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3068\u6bd4\u8f03\u3057\u3066\u3001Prof Chae\u306e\u30bb\u30f3\u30bf\u30fc\u3067\u306f\u4e00\u822c\u7684\u306b\u6570\u9031\u9593\u304b\u305d\u308c\u4ee5\u4e0b\u3067\u7d50\u679c\u304c\u5f97\u3089\u308c\u307e\u3059\uff08\u7279\u306b\u65b0\u751f\u5150\u307e\u305f\u306f\u5c0f\u5150\u306e\u96c6\u4e2d\u6cbb\u7642\u5ba4\u306e\u7dca\u6025\u75c7\u4f8b\u306e\u5834\u5408\uff09\u3002\u3053\u308c\u3089\u306e\u8fc5\u901f\u30b5\u30fc\u30d3\u30b9\u306f\u97d3\u56fd\u306e\u56fd\u6c11\u5065\u5eb7\u4fdd\u967a\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c5\u9662\u3001\u516c\u8846\u885b\u751f\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3001\u307e\u305f\u306f\u5730\u5143\u306eNGO\u3092\u901a\u3058\u3066\u8cc7\u91d1\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n

\u00a0 <\/p>\n

SNUH Rare Disease Center\u3067\u306e\u8fc5\u901f\u306a\u691c\u67fb\u3078\u306e1\u3064\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u306f\u3001Prof Chae\u304cMedySapiens\u3068\u5171\u540c\u958b\u767a\u3057\u305fNGS\u30d1\u30cd\u30eb\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002MedySapiens\u306f\u3001\u6700\u5148\u7aef\u306eAI\u3001\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u3001\u30b2\u30ce\u30df\u30af\u30b9\u306e\u4ea4\u5dee\u70b9\u3067\u88fd\u54c1\u3068\u30b5\u30fc\u30d3\u30b9\u3092\u958b\u767a\u3057\u3066\u3044\u307e\u3059\u3002\u30d1\u30cd\u30eb\u306f\u3001\u4e3b\u306b\u97d3\u56fd\u3067\u975e\u5e38\u306b\u52b9\u679c\u7684\u306a\u6cbb\u7642\u304c\u5229\u7528\u53ef\u80fd\u306a\u75c7\u72b6\u306b\u3064\u3044\u3066\u3001\u7d04270\u306e\u907a\u4f1d\u5b50\u3092\u30ab\u30d0\u30fc\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u30ea\u30b9\u30c8\u306f\u3001\u30b2\u30ce\u30e0\u533b\u7642\u3068\u511f\u9084\u306e\u6700\u65b0\u306e\u9032\u6b69\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u306b\u5b9a\u671f\u7684\u306b\u66f4\u65b0\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u97d3\u56fd\u3067\u5229\u7528\u53ef\u80fd\u306a\u3088\u308a\u5305\u62ec\u7684\u306a\u914d\u5217\u6c7a\u5b9a\u30b5\u30fc\u30d3\u30b9\u3068\u6bd4\u8f03\u3057\u3066\u3001SNUH Rare Disease Center\u306eNGS\u30d1\u30cd\u30eb\u306f\u3001\u3088\u308a\u4f4e\u3044\u30b3\u30b9\u30c8\u3068\u77ed\u3044\u6240\u8981\u6642\u9593\u3092\u5b9f\u73fe\u3059\u308b\u3068\u3001Prof Chae\u6c0f\u306f\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u307b\u307c\u3059\u3079\u3066\u306e\u65b0\u751f\u5150\u304c\u97d3\u56fd\u3067\u53d7\u3051\u308b\u6a19\u6e96\u7684\u306a\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u540c\u3058\u4e7e\u71e5\u8840\u6db2\u30b9\u30dd\u30c3\u30c8\uff08DBS\uff09\u6750\u6599\u3067\u4f7f\u7528\u3067\u304d\u308b\u305f\u3081\u3001\u5fc5\u305a\u3057\u3082\u8ffd\u52a0\u306e\u63a1\u8840\u3084\u5927\u91cf\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u5fc5\u8981\u3068\u305b\u305a\u3001\u65b0\u751f\u5150\u3084\u91cd\u7be4\u306a\u72b6\u614b\u306e\u5c0f\u5150\u306b\u306f\u8ca0\u62c5\u304c\u5c11\u306a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u30d1\u30cd\u30eb\u306b\u306a\u3044\u72b6\u614b\u3092\u6709\u3059\u308b\u3068\u7591\u308f\u308c\u308b\u60a3\u8005\u3001\u307e\u305f\u306f\u4ed6\u306e\u65bd\u8a2d\u3067\u3088\u308a\u65e5\u5e38\u7684\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u65e2\u306b\u53d7\u3051\u305f\u3053\u3068\u304c\u3042\u308b\u60a3\u8005\u306b\u3064\u3044\u3066\u306f\u3001\u5225\u306e\u9078\u629e\u80a2\u306f\u3001\u30c8\u30ea\u30aa\u30d9\u30fc\u30b9\u306e\u8fc5\u901f\u306a\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u307e\u305f\u306f\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08rWES\/rWGS\uff09\u3092\u884c\u3046\u3053\u3068\u3067\u3059\u3002\u3053\u308c\u306f\u30d1\u30cd\u30eb\u691c\u67fb\u3088\u308a\u3082\u7d50\u679c\u3092\u51fa\u3059\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3082\u306e\u306e\u3001\u60a3\u8005\u3068\u4e21\u89aa\u304b\u3089\u306e\u63a1\u8840\u3092\u5897\u3084\u3057\u3001\u7d50\u679c\u3092\u89e3\u91c8\u3059\u308b\u305f\u3081\u306e\u81e8\u5e8a\u3084\u60c5\u5831\u5b66\u306e\u5c02\u9580\u77e5\u8b58\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002<\/p>\n

rWES\u304a\u3088\u3073rWGS\u306f\u307e\u305f\u3001\u30d1\u30cd\u30eb\u8a66\u9a13\u3088\u308a\u3082\u8cbb\u7528\u304c\u304b\u304b\u308a\u307e\u3059\u3002\u3053\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u306f\u56fd\u306e\u4fdd\u967a\u306e\u5bfe\u8c61\u5916\u3067\u3059\u304c\u3001\u5c0f\u5150\u5e0c\u5c11\u75be\u60a3\u306e\u8a3a\u65ad\u304a\u3088\u3073\u81e8\u5e8a\u30b5\u30fc\u30d3\u30b9\u3092\u652f\u63f4\u3059\u308b600\u5104\u30a6\u30a9\u30f3\uff084400\u4e07\u30c9\u30eb\uff09\u3092\u542b\u308010\u5e74\u9593\u306e\u7814\u7a76\u304a\u3088\u3073\u516c\u8846\u885b\u751f\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\u3067\u3042\u308bLee Kun-Hee Childhood Cancer & Rare Disease Project\u306e\u3088\u3046\u306a\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u901a\u3058\u3066\u8cc7\u91d1\u304c\u63d0\u4f9b\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059[1]\u3002\u3053\u306e\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6\u306e\u30c6\u30b9\u30c8\u3068\u8abf\u6574\u306e\u591a\u304f\u306fSNUH\u3092\u901a\u3058\u3066\u884c\u308f\u308c\u307e\u3059\u304c\u3001\u8cc7\u91d1\u306f\u97d3\u56fd\u306e\u591a\u304f\u306e\u30bb\u30f3\u30bf\u30fc\u306b\u5206\u6563\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306e\u7814\u7a76\u3092\u63a8\u9032<\/h2>\n

SNUH Rare Disease Center\u3067\u5229\u7528\u53ef\u80fd\u306a\u5f37\u529b\u306a\u691c\u67fb\u306e\u3059\u3079\u3066\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001Prof Chae\u306f\u3001\u540c\u6c0f\u306e\u30af\u30ea\u30cb\u30c3\u30af\u306e\u60a3\u8005\u306e\u534a\u6570\u4ee5\u4e0a\u304c\u307e\u3060\u6b63\u78ba\u3067\u30bf\u30a4\u30e0\u30ea\u30fc\u306a\u8a3a\u65ad\u3092\u5f97\u308b\u306e\u306b\u82e6\u52b4\u3057\u3066\u3044\u308b\u3068\u5606\u3044\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u540c\u6c0f\u306f\u307e\u305f\u3001\u691c\u67fb\u306e\u30a4\u30ce\u30d9\u30fc\u30b7\u30e7\u30f3\u3092\u63a8\u9032\u3057\u3001\u8a3a\u65ad\u53ce\u7387\u3092\u9ad8\u3081\u3001\u5168\u4f53\u7684\u306a\u54c1\u8cea\u3001\u901f\u5ea6\u3001\u304a\u3088\u3073\u30b3\u30b9\u30c8\u3092\u6539\u5584\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u30b2\u30ce\u30e0\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306b\u591a\u304f\u306e\u6642\u9593\u3092\u8cbb\u3084\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u97d3\u56fd\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u5206\u91ce\u3067\u5805\u7262\u306a\u8d77\u696d\u5bb6\u30a8\u30b3\u30b7\u30b9\u30c6\u30e0\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u4e00\u90e8\u306f\u6c11\u9593\u4f01\u696d\u3068\u306e\u30d1\u30fc\u30c8\u30ca\u30fc\u30b7\u30c3\u30d7\u3092\u901a\u3058\u3066\u63a8\u9032\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u4f8b\u3068\u3057\u3066\u3001Prof Chae\u306f\u3001\u5e0c\u5c11\u75be\u60a3\u8a66\u9a13\u304a\u3088\u3073\u6280\u8853\u30b5\u30fc\u30d3\u30b9\u306e\u30d7\u30ed\u30d0\u30a4\u30c0\u3067\u3042\u308b3billion\u3068\u5354\u529b\u3057\u3066\u3001\u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u304fAI\u30d9\u30fc\u30b9\u306e\u907a\u4f1d\u5b50\u5909\u7570\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3092\u958b\u767a\u3057\u3066\u3044\u307e\u3059\u3002\u540c\u6c0f\u306b\u3088\u308c\u3070\u3001\u540c\u793e\u306e\u30b7\u30b9\u30c6\u30e0\u306f\u65e2\u306b\u7a00\u306a\u30d0\u30ea\u30a2\u30f3\u30c8\u306b\u5bfe\u3057\u3066\u5370\u8c61\u7684\u306a\u5206\u6790\u529b\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u307e\u3060\u6539\u5584\u3057\u3066\u3044\u308b\u3068\u8a00\u3044\u307e\u3059\u3002<\/p>\n

\u00a0 <\/p>\n

\u307e\u305f\u3001\u97d3\u56fd\u306e\u30b2\u30ce\u30e0\u60c5\u5831\u3068\u81e8\u5e8a\u60c5\u5831\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u30c7\u30fc\u30bf\u30bb\u30c3\u30c8\u3092\u958b\u767a\u3059\u308b\u591a\u7701\u5e81\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3067\u3042\u308bKorea National Project of Bio Big Data\uff08NPBBD\uff09\u306a\u3069\u3001\u591a\u304f\u306e\u516c\u7684\u90e8\u9580\u306e\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3068\u9023\u643a\u3057\u3066\u3044\u307e\u3059\u30022020\u5e74\u306b\u958b\u59cb\u3055\u308c\u305f\u3053\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306f\u3001\u5f53\u521d\u3001\u5e0c\u5c11\u75be\u75c5\u60a3\u8005\u306e\u30b3\u30db\u30fc\u30c8\u3067\u8a66\u9a13\u7684\u306b\u5b9f\u65bd\u3055\u308c\u307e\u3057\u305f\u3002SNUH\u306f\u3053\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u4e3b\u8981\u306a\u30bb\u30f3\u30bf\u30fc\u306e1\u3064\u3067\u3042\u308a\u3001\u3053\u306e\u521d\u671f\u30b3\u30db\u30fc\u30c8\u306e\u4e00\u90e8\u3068\u3057\u3066\u30c8\u30ea\u30aa\u30d9\u30fc\u30b9\u306eWGS\u691c\u67fb\u306e\u305f\u3081\u306b\u4f55\u5343\u4eba\u3082\u306e\u60a3\u8005\u3092\u3082\u305f\u3089\u3057\u307e\u3057\u305f\u3002<\/p>\n

\u97d3\u56fd\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u30d1\u30a4\u30ed\u30c3\u30c8\u6bb5\u968e\u306e\u63a1\u7528\u6d3b\u52d5\u306b\u304a\u3044\u3066\u3001Prof Chae\u306f\u3001\u4e3b\u306b\u672a\u8a3a\u65ad\u306e\u75c7\u4f8b\u3084\u3001\u30c7\u30e5\u30b7\u30a7\u30f3\u30cc\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u3084\u30ec\u30c3\u30c8\u75c7\u5019\u7fa4\u306a\u3069\u306e\u81e8\u5e8a\u7684\u5909\u52d5\u6027\u304c\u9ad8\u304f\u3001WGS\u30c7\u30fc\u30bf\u304c\u6cbb\u7642\u958b\u767a\u306e\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u65e2\u77e5\u306e\u5e0c\u5c11\u75be\u60a3\u306e\u60a3\u8005\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u308b\u3068\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u3001\u305d\u306e\u76ee\u7684\u3067\u30c7\u30fc\u30bf\u3092\u5206\u6790\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u4ed6\u306e\u56fd\u306e\u4ed6\u306e\u516c\u7684\u90e8\u9580\u306e\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3068\u540c\u69d8\u306b\u3001NPBBD\u306f\u73fe\u5728\u3001\u3088\u308a\u4e00\u822c\u7684\u306a\u75be\u60a3\u3084\u5065\u5eb7\u7ba1\u7406\u3092\u6709\u3059\u308b\u60a3\u8005\u3001\u3055\u3089\u306b\u306f\u5e0c\u5c11\u75be\u60a3\u3092\u6709\u3059\u308b\u60a3\u8005\u3092\u542b\u3080\u3001\u6700\u5927100\u4e07\u4eba\u306e\u60a3\u8005\u306e\u3088\u308a\u5927\u304d\u306a\u30b3\u30db\u30fc\u30c8\u3092\u52df\u96c6\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u305f\u7b2c2\u306e\u30d5\u30a7\u30fc\u30ba\u3092\u958b\u59cb\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u306b\u3042\u308a\u307e\u3059\u3002Prof Chae\u306f\u3053\u306e\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u30a2\u30c9\u30d0\u30a4\u30b6\u30fc\u3067\u3042\u308a\u7d9a\u3051\u3001\u30ea\u30fc\u30c0\u30fc\u306b\u30c7\u30fc\u30bf\u3092\u7814\u7a76\u8005\u3068\u5171\u6709\u3059\u308b\u305f\u3081\u306e\u5805\u7262\u306a\u8a08\u753b\u3092\u4f5c\u6210\u3057\u3001\u4eca\u5f8c\u6570\u5e74\u9593\u3067\u30ed\u30f3\u30b0\u30ea\u30fc\u30c9\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30c7\u30fc\u30bf\u3092\u7d44\u307f\u8fbc\u3080\u3053\u3068\u3092\u5968\u52b1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n

Prof Chae\u306f\u3001Undiagnosed Diseases Network International\uff08UDNI\uff09\u306e\u30e1\u30f3\u30d0\u30fc\u3067\u3042\u308bKorea Undiagnosed Diseases Program\uff08K-UDP\uff09\u306b\u3082\u6df1\u304f\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002\u97d3\u56fd\u3067\u306e\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u7acb\u3061\u4e0a\u3052\u3068\u53d6\u308a\u7d44\u307f\u306e\u6210\u679c\u306e\u767a\u8868\u3092\u652f\u63f4\u3059\u308b\u3053\u3068\u306b\u52a0\u3048[2]\u3001\u540c\u6c0f\u306f2024\u5e749\u67085\uff5e7\u65e5\u306b\u30bd\u30a6\u30eb\u306eSNUH\u3067UDNI\u306e10\u5468\u5e74\u8a18\u5ff5\u4f1a\u8b70\u3092\u958b\u50ac\u3059\u308b\u4e88\u5b9a\u3067\u3059\u3002<\/p>\n

\u97d3\u56fd\u306b\u304a\u3051\u308b\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u30d3\u30b8\u30e7\u30f3<\/h2>\n

\u5e0c\u5c11\u75be\u75c5\u7814\u7a76\u304a\u3088\u3073\u8a3a\u65ad\u306b\u304a\u3051\u308b\u591a\u304f\u306e\u6d3b\u52d5\u306e\u4e2d\u3067\u3001SNUH\u306f\u56fd\u306e\u65b0\u751f\u5150\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08NBS\uff09\u691c\u67fb\u5ba4\u306e1\u3064\u3092\u904b\u55b6\u3057\u3066\u3044\u307e\u3059\u3002\u97d3\u56fd\u653f\u5e9c\u306e\u8cc7\u91d1\u3092\u5f97\u3066\u3001\u516c\u5171NBS\u30b7\u30b9\u30c6\u30e0\u306f60\u4ee5\u4e0a\u306e\u6761\u4ef6\u306b\u5bfe\u3057\u3066\u751f\u5316\u5b66\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u308b\u3068Prof Chae\u306f\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u4e16\u754c\u306e\u591a\u304f\u306e\u56fd\u304cSMA\u3084SCID\u306a\u3069\u306e\u75be\u60a3\u306b\u5bfe\u3057\u3066NBS\u30d1\u30cd\u30eb\u306b\u5206\u5b50\u691c\u67fb\u3092\u8ffd\u52a0\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u3092\u9032\u3081\u3066\u3044\u307e\u3059\u304c\u3001Prof Chae\u306f\u97d3\u56fd\u306e\u516c\u5171NBS\u30b7\u30b9\u30c6\u30e0\u306b\u306f\u30b2\u30ce\u30e0\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u542b\u307e\u308c\u3066\u3044\u306a\u3044\u3068\u6307\u6458\u3057\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u3001\u97d3\u56fd\u306e\u56fd\u5bb6\u4fdd\u967a\u306f\u3001\u75c7\u5019\u6027\u60a3\u8005\u306e\u8a3a\u65ad\u7b49\u7d1a\u306e\u30b2\u30ce\u30e0\u691c\u67fb\u306e\u307f\u3092\u30ab\u30d0\u30fc\u3057\u3066\u3044\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u73fe\u5730\u306e\u6cd5\u5f8b\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u305f\u3081\u306e\u7279\u5225\u306a\u540c\u610f\u3092\u5fc5\u8981\u3068\u3057\u3001\u81e8\u5e8a\u533b\u306e\u305f\u3081\u306e\u4f59\u5206\u306a\u7ba1\u7406\u4f5c\u696d\u3092\u751f\u307f\u51fa\u3057\u3001\u6c11\u9593\u5e02\u5834\u3067\u5206\u5b50\u691c\u67fb\u3092\u5c55\u958b\u3059\u308b\u3053\u3068\u306e\u963b\u5bb3\u8981\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n

\u653f\u5e9c\u304c\u51fa\u8cc7\u3059\u308bNBS\u30d1\u30cd\u30eb\u3092\u88dc\u3046\u305f\u3081\u306b\u3001\u591a\u304f\u306e\u97d3\u56fd\u306e\u89aa\u306f\u5730\u5143\u306e\u5e02\u5834\u3067\u300cG\u30b9\u30ad\u30e3\u30f3\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u308b\u30b5\u30fc\u30d3\u30b9\u3092\u8cfc\u5165\u3057\u307e\u3059\u3002\u300c\u3053\u308c\u3089\u306f\u3001\u57fa\u672c\u7684\u306b\u3001\u7121\u75c7\u72b6\u306e\u5c0f\u5150\u306b\u304a\u3051\u308b\u5fae\u5c0f\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u306e\u305f\u3081\u306e\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u3067\u3059\u300d\u3068Prof Chae\u306f\u8ff0\u3079\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u591a\u304f\u306e\u5730\u5143\u4f01\u696d\u306b\u3088\u3063\u3066\u63d0\u4f9b\u3055\u308c\u3066\u304a\u308a\u3001\u51fa\u7523\u30bb\u30f3\u30bf\u30fc\u3067\u5927\u304d\u304f\u5ba3\u4f1d\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u97d3\u56fd\u306e\u56fd\u6c11\u4fdd\u967a\u306f\u9069\u7528\u3055\u308c\u307e\u305b\u3093\u304c\u3001\u4e00\u90e8\u306e\u6c11\u9593\u4fdd\u967a\u30d7\u30e9\u30f3\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n

\u00a0 <\/p>\n

Prof Chae\u306f\u3001\u3053\u306eNBS\u30b7\u30b9\u30c6\u30e0\u306f\u60a3\u8005\u306b\u3068\u3063\u3066\u6700\u9069\u3067\u306f\u306a\u3044\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002\u540c\u6c0f\u306f\u3001\u516c\u7684\u304a\u3088\u3073\u79c1\u7684\u306a\u4e21\u65b9\u306eNBS\u30d1\u30cd\u30eb\u306b\u3001\u3088\u308a\u591a\u304f\u306e\u5206\u5b50\u691c\u67fb\u304c\u7d44\u307f\u8fbc\u307e\u308c\u308b\u3053\u3068\u3092\u671b\u3093\u3067\u304a\u308a\u3001\u307e\u305f\u3001\u97d3\u56fd\u306eNBS\u306b\u304a\u3051\u308b\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306e\u53ef\u80fd\u6027\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306e\u5927\u898f\u6a21\u306a\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u3092\u898b\u305f\u3044\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306f\u3001\u3059\u3067\u306b\u4e16\u754c\u4e2d\u306e\u591a\u304f\u306e\u5148\u9032\u56fd\u3067\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u97d3\u56fd\u3067\u306f\u884c\u308f\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n

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\u4ed6\u306e\u591a\u304f\u306e\u56fd\u3067\u306e\u30b2\u30ce\u30e0NBS\u306e\u7d99\u7d9a\u7684\u306a\u666e\u53ca\u3092\u8003\u3048\u308b\u3068\u3001\u97d3\u56fd\u3067\u3082\u305d\u306e\u63a1\u7528\u306f\u907f\u3051\u3089\u308c\u306a\u3044\u3067\u3057\u3087\u3046\u3002\u305d\u308c\u3067\u3082\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u60a3\u8005\u3084\u305d\u306e\u4ecb\u8b77\u8005\u304c\u5207\u671b\u3057\u3066\u3044\u308b\u5909\u5316\u3092\u5b9f\u73fe\u3059\u308b\u306b\u306f\u3001\u30a8\u30b3\u30b7\u30b9\u30c6\u30e0\u5168\u4f53\u306e\u5229\u5bb3\u95a2\u4fc2\u8005\u3084\u3001Prof Chae\u306e\u3088\u3046\u306a\u5e0c\u5c11\u75be\u60a3\u306e\u30d1\u30a4\u30aa\u30cb\u30a2\u304b\u3089\u306e\u30ea\u30fc\u30c0\u30fc\u30b7\u30c3\u30d7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n

\u672c\u8a18\u4e8b\u306f\u3001Roche Diagnostics Korea\u304a\u3088\u3073Roche Pharmaceuticals Korea\u306e\u30c1\u30fc\u30e0\u306e\u652f\u63f4\u3092\u53d7\u3051\u3066\u3001Roche Diagnostics Asia Pacific\u306eHealthcare Engagement Lead\u3067\u3042\u308bWill Greene\u306b\u3088\u3063\u3066\u57f7\u7b46\u3055\u308c\u307e\u3057\u305f\u3002\u8457\u8005\u306f\u3001\u672c\u7a3f\u306e\u80cc\u666f\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u305f\u3001Dr Myungshin Kim\uff08Seoul St Mary\u2019s Hospital\u81e8\u5e8a\u691c\u67fb\u533b\u5b66\u79d1\u6559\u6388\uff09\u3001Sanggoo Kang\u6c0f\uff08MedySapiens\u793eCEO\uff09\u3001Changwon Keum\u6c0f\uff083billion\u793eCEO\uff09\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u3001\u5e0c\u5c11\u75be\u75c5\u8a3a\u65ad\u306e\u4ed6\u306e\u5c02\u9580\u5bb6\u306e\u610f\u898b\u3092\u63a1\u7528\u3057\u3066\u3044\u307e\u3059\u3002\u00a0<\/em><\/p>\n

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

[1]<\/a> http:\/\/www.snuh.org\/global\/en\/about\/newsView.do?bbs_no=6483
\n[2]<\/a>\u00a0Kim, S.Y. et al. (2022) \u2019The Korean undiagnosed diseases program phase I: Expansion of the Nationwide Network and the development of long-term infrastructure\u2019, Orphanet Journal of Rare Diseases, 17(1). doi:10.1186\/s13023-022-02520-5\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"

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