{"id":145633,"date":"2024-05-24T02:05:27","date_gmt":"2024-05-24T02:05:27","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%e9%9f%a9%e5%9b%bd%e7%bd%95%e8%a7%81%e7%97%85%e8%af%8a%e6%96%ad%e7%9a%84%e5%8f%91%e5%b1%95%ef%bc%9ajong-hee-chae-%e6%95%99%e6%8e%88%e7%9a%84%e5%85%b3%e6%b3%a8%e7%84%a6%e7%82%b9\/"},"modified":"2026-02-05T13:26:11","modified_gmt":"2026-02-05T13:26:11","slug":"improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/zhcn\/disease-area\/rare-diseases\/improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae\/","title":{"rendered":"\u97e9\u56fd\u7f55\u89c1\u75c5\u8bca\u65ad\u7684\u53d1\u5c55\uff1aJong-Hee Chae \u6559\u6388\u7684\u5173\u6ce8\u7126\u70b9"},"content":{"rendered":"

Jong-Hee Chae \u6559\u6388\u662f\u97e9\u56fd\u6700\u77e5\u540d\u7684\u7f55\u89c1\u9057\u4f20\u75c5\u4e13\u5bb6\u4e4b\u4e00\uff0c\u540c\u65f6\u4e5f\u662f\u97e9\u56fd\u9886\u5148\u7684\u5b66\u672f\u6027\u533b\u5b66\u673a\u6784\u4e4b\u4e00 Seoul National University Hospital (SNUH) \u7684\u4e34\u5e8a\u57fa\u56e0\u7ec4\u533b\u5b66\u7cfb\u6559\u6388\u517c\u7f55\u89c1\u75c5\u4e2d\u5fc3\u4e3b\u4efb<\/a>\u3002<\/p>\n

\u5728 Chae \u6559\u6388\u7684\u4f17\u591a\u804c\u8d23\u4e2d\uff0c\u5979\u5728\u591a\u4e2a\u65e8\u5728\u6539\u5584\u97e9\u56fd\u7f55\u89c1\u75c5\u8bca\u65ad\u7684\u91cd\u8981\u9879\u76ee\u4e2d\u53d1\u6325\u7740\u5173\u952e\u4f5c\u7528\u3002\u5728\u6700\u8fd1\u4e0e Lab Insights \u7684\u8ba8\u8bba\u4e2d\uff0c\u5979\u5206\u4eab\u4e86\u5de5\u4f5c\u7684\u6700\u65b0\u8fdb\u5c55\uff0c\u5e76\u5bf9\u7f29\u77ed\u60a3\u8005\u8bca\u65ad\u5386\u7a0b\u6240\u9700\u7684\u6761\u4ef6\u63d0\u51fa\u4e86\u770b\u6cd5\u3002<\/p>\n

SNUH Rare Disease Centre \u7684\u4e34\u5e8a\u8bca\u65ad<\/h2>\n

SNUH Rare Disease Centre \u6210\u7acb\u4e8e 2010 \u5e74\uff0c\u5c06\u81ea\u8eab\u5b9a\u4f4d\u4e3a\u97e9\u56fd\u9996\u4e2a\u9762\u5411\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u591a\u5b66\u79d1\u3001\u7efc\u5408\u6027\u533b\u7597\u7cfb\u7edf\u3002\u4f5c\u4e3a\u4e2d\u5fc3\u4e3b\u4efb\uff0cChae \u6559\u6388\u8d1f\u8d23\u76d1\u7ba1 70 \u591a\u4e2a\u513f\u79d1\u53ca\u6210\u4eba\u60a3\u8005\u8bca\u6240\uff08\u5979\u8fd8\u662f\u513f\u79d1\u795e\u7ecf\u79d1\u533b\u751f\uff0c\u5728 SNUH Children\u2019s Hospital \u4e3a\u60a3\u8005\u770b\u8bca\uff09\u3002<\/p>\n

\u5bf9\u4e8e\u5c1a\u672a\u786e\u8bca\u7684\u60a3\u8005\uff0cSNUH Rare Disease Centre \u63d0\u4f9b\u97e9\u56fd\u6700\u5148\u8fdb\u7684\u57fa\u56e0\u68c0\u6d4b\u3002\u867d\u7136\u5168\u56fd\u5927\u591a\u6570\u513f\u7ae5\u533b\u9662\u90fd\u6709\u80fd\u529b\u8fdb\u884c\u5e38\u89c4\u57fa\u56e0\u68c0\u6d4b\uff0c\u4f8b\u5982\u4f7f\u7528\u5e02\u552e\u7684 NGS \u7ec4\u5408\u68c0\u6d4b\u548c\u57fa\u56e0\u82af\u7247\uff0c\u4f46 SNUH \u5f80\u5f80\u4f1a\u63a5\u624b\u6700\u590d\u6742\u53ca\u6700\u5177\u6311\u6218\u6027\u7684\u75c5\u4f8b\u3002<\/p>\n

SNUH Rare Disease Centre \u7684\u4e00\u4e2a\u4e3b\u8981\u5173\u6ce8\u9886\u57df\u662f\u5bf9\u6709\u75c7\u72b6\u7684\u60a3\u8005\u8fdb\u884c\u5feb\u901f\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u3002\u4e0e\u901a\u5e38\u9700\u8981\u6570\u6708\u624d\u80fd\u5b8c\u6210\u7684\u5e38\u89c4\u57fa\u56e0\u68c0\u6d4b\u76f8\u6bd4\uff0cChae \u6559\u6388\u7684\u7814\u7a76\u4e2d\u5fc3\u901a\u5e38\u80fd\u591f\u5728\u51e0\u5468\u6216\u66f4\u77ed\u7684\u65f6\u95f4\u5185\u63d0\u4f9b\u68c0\u6d4b\u7ed3\u679c\uff0c\u5c24\u5176\u662f\u9488\u5bf9\u65b0\u751f\u513f\u6216\u513f\u79d1\u91cd\u75c7\u76d1\u62a4\u75c5\u623f\u7684\u7d27\u6025\u75c5\u4f8b\u3002\u97e9\u56fd\u56fd\u5bb6\u533b\u7597\u4fdd\u9669\u8ba1\u5212\u4e0d\u5305\u62ec\u6b64\u7c7b\u5feb\u901f\u68c0\u6d4b\u670d\u52a1\uff0c\u4f46\u60a3\u8005\u6709\u65f6\u53ef\u901a\u8fc7\u533b\u9662\u3001\u516c\u5171\u536b\u751f\u9879\u76ee\u6216\u5730\u65b9\u975e\u653f\u5e9c\u7ec4\u7ec7 (NGO) \u83b7\u5f97\u8d44\u91d1\u652f\u6301\u3002<\/p>\n

\u00a0 <\/p>\n

SNUH Rare Disease Centre \u7684\u4e00\u79cd\u5feb\u901f\u68c0\u6d4b\u65b9\u6cd5\u4e3b\u8981\u901a\u8fc7 NGS \u68c0\u6d4b\u7ec4\u5408\u5b8c\u6210\uff0cChae \u6559\u6388\u4e0e\u5f53\u5730\u79c1\u8425\u516c\u53f8 MedySapiens \u5171\u540c\u5f00\u53d1\u4e86\u8fd9\u79cd\u68c0\u6d4b\u7ec4\u5408\uff0c\u8be5\u516c\u53f8\u5728\u5c16\u7aef\u4eba\u5de5\u667a\u80fd (AI)\u3001\u751f\u7269\u4fe1\u606f\u5b66\u548c\u57fa\u56e0\u7ec4\u5b66\u7684\u4ea4\u53c9\u9886\u57df\u5f00\u53d1\u4ea7\u54c1\u548c\u670d\u52a1\u3002\u8be5\u68c0\u6d4b\u7ec4\u5408\u6db5\u76d6\u4e86\u5927\u7ea6 270 \u4e2a\u57fa\u56e0\uff0c\u4e3b\u8981\u9488\u5bf9\u5728\u97e9\u56fd\u5df2\u5177\u5907\u9ad8\u6548\u6cbb\u7597\u624b\u6bb5\u7684\u75be\u75c5\u3002\u8be5\u57fa\u56e0\u5217\u8868\u5b9a\u671f\u66f4\u65b0\uff0c\u4ee5\u8ddf\u4e0a\u57fa\u56e0\u7ec4\u533b\u5b66\u53ca\u62a5\u9500\u653f\u7b56\u7684\u6700\u65b0\u8fdb\u5c55\u3002<\/p>\n

Chae \u6559\u6388\u8868\u793a\uff0c\u4e0e\u97e9\u56fd\u73b0\u6709\u7684\u66f4\u5168\u9762\u7684\u6d4b\u5e8f\u670d\u52a1\u76f8\u6bd4\uff0cSNUH Rare Disease Centre \u7684 NGS \u68c0\u6d4b\u7ec4\u5408\u6210\u672c\u66f4\u4f4e\uff0c\u4e14\u68c0\u6d4b\u5468\u671f\u66f4\u77ed\u3002\u8be5\u68c0\u6d4b\u8fd8\u53ef\u5229\u7528\u97e9\u56fd\u51e0\u4e4e\u6240\u6709\u65b0\u751f\u513f\u90fd\u4f1a\u63a5\u53d7\u7684\u6807\u51c6\u75be\u75c5\u7b5b\u68c0\u4e2d\u6240\u91c7\u96c6\u7684\u5e72\u8840\u6591 (DBS) \u6837\u672c\u8fdb\u884c\uff0c\u56e0\u6b64\u901a\u5e38\u65e0\u9700\u989d\u5916\u62bd\u8840\u6216\u5927\u91cf\u6837\u672c\uff0c\u56e0\u4e3a\u989d\u5916\u62bd\u8840\u6216\u5927\u91cf\u6837\u672c\u5bf9\u4e8e\u65b0\u751f\u513f\u6216\u5371\u91cd\u60a3\u513f\u800c\u8a00\u5c24\u5f80\u5f80\u5e76\u4e0d\u53ef\u53d6\u3002<\/p>\n

\u5bf9\u4e8e\u7591\u4f3c\u60a3\u6709\u672c\u68c0\u6d4b\u7ec4\u5408\u4ee5\u5916\u7684\u75c5\u75c7\u6216\u5df2\u5728\u5176\u4ed6\u4e2d\u5fc3\u63a5\u53d7\u66f4\u5e38\u89c4\u7684\u57fa\u56e0\u68c0\u6d4b\u7684\u60a3\u8005\uff0c\u53e6\u4e00\u79cd\u9009\u62e9\u662f\u8fdb\u884c\u57fa\u4e8e\u4e09\u4f4d\u4f53\u7684\u5feb\u901f\u5168\u5916\u663e\u5b50\u7ec4\u6216\u57fa\u56e0\u7ec4\u6d4b\u5e8f (rWES\/rWGS)\u3002Chae \u6559\u6388\u8868\u793a\uff0c\u8fd9\u66f4\u6709\u53ef\u80fd\u5e26\u6765\u6bd4\u5e38\u89c4\u68c0\u6d4b\u66f4\u591a\u7684\u7ed3\u679c\uff0c\u4f46\u4e5f\u9700\u8981\u4ece\u60a3\u8005\u548c\u7236\u6bcd\u53cc\u65b9\u8eab\u4e0a\u989d\u5916\u62bd\u8840\uff0c\u540c\u65f6\u4e5f\u9700\u8981\u66f4\u591a\u7684\u4e34\u5e8a\u548c\u4fe1\u606f\u5b66\u4e13\u4e1a\u77e5\u8bc6\u6765\u89e3\u91ca\u7ed3\u679c\u3002<\/p>\n

rWES \u548c rWGS \u4e5f\u6bd4\u7ec4\u5408\u68c0\u6d4b\u6210\u672c\u66f4\u9ad8\u3002\u6b64\u7c7b\u68c0\u6d4b\u4e0d\u5728\u56fd\u5bb6\u4fdd\u9669\u7684\u8986\u76d6\u8303\u56f4\u5185\uff0c\u4f46\u60a3\u8005\u6709\u65f6\u53ef\u4ee5\u901a\u8fc7 Lee Kun-Hee Childhood Cancer & Rare Disease \u9879\u76ee\u7b49\u83b7\u5f97\u8d44\u91d1\uff0c\u8be5\u9879\u76ee\u662f\u4e00\u4e2a\u4e3a\u671f 10 \u5e74\u7684\u7814\u7a76\u53ca\u516c\u5171\u536b\u751f\u9879\u76ee\uff0c\u7eb3\u5165 600 \u4ebf\u97e9\u5143\uff08\u5408 4400 \u4e07\u7f8e\u5143\uff09\u7528\u4e8e\u652f\u6301\u513f\u79d1\u7f55\u89c1\u75c5\u7684\u8bca\u65ad\u4e0e\u4e34\u5e8a\u670d\u52a1 [1]\u3002\u5c3d\u7ba1\u76f8\u5173\u8d44\u91d1\u4f1a\u5206\u914d\u7ed9\u97e9\u56fd\u591a\u5bb6\u533b\u7597\u4e2d\u5fc3\uff0c\u4f46\u8be5\u8ba1\u5212\u7684\u5927\u90e8\u5206\u68c0\u6d4b\u4e0e\u534f\u8c03\u5de5\u4f5c\u5747\u7531 SNUH \u533b\u9662\u627f\u62c5\u3002<\/p>\n

\u63a8\u52a8\u7f55\u89c1\u75c5\u8bca\u65ad\u7814\u7a76<\/h2>\n

\u5373\u4f7f\u5728 SNUH Rare Disease Centre \u8fdb\u884c\u4e86\u5927\u91cf\u68c0\u6d4b\uff0cChae \u6559\u6388\u4ecd\u611f\u53f9\u9053\uff0c\u5979\u8bca\u6240\u8d85\u8fc7\u4e00\u534a\u7684\u60a3\u8005\u4ecd\u96be\u4ee5\u5f97\u5230\u51c6\u786e\u53ca\u65f6\u7684\u8bca\u65ad\u3002\u56e0\u6b64\uff0c\u5979\u8fd8\u82b1\u5927\u91cf\u65f6\u95f4\u53c2\u4e0e\u57fa\u56e0\u7ec4\u7814\u7a76\u9879\u76ee\uff0c\u65e8\u5728\u63a8\u52a8\u68c0\u6d4b\u521b\u65b0\uff0c\u63d0\u9ad8\u8bca\u65ad\u68c0\u51fa\u7387\uff0c\u5e76\u6539\u5584\u6574\u4f53\u8d28\u91cf\u3001\u901f\u5ea6\u548c\u6210\u672c\u3002<\/p>\n

\u97e9\u56fd\u5728\u57fa\u56e0\u68c0\u6d4b\u9886\u57df\u62e5\u6709\u5f3a\u5927\u7684\u521b\u4e1a\u751f\u6001\u7cfb\u7edf\uff0c\u5176\u4e2d\u67d0\u4e9b\u9879\u76ee\u4e3b\u8981\u901a\u8fc7\u4e0e\u79c1\u8425\u516c\u53f8\u7684\u4f19\u4f34\u5173\u7cfb\u63a8\u52a8\u3002\u4f8b\u5982\uff0cChae \u6559\u6388\u4e0e\u7f55\u89c1\u75c5\u68c0\u6d4b\u53ca\u6280\u672f\u670d\u52a1\u63d0\u4f9b\u5546 3billion \u5408\u4f5c\uff0c\u5171\u540c\u5f00\u53d1\u57fa\u4e8e\u57fa\u56e0\u578b-\u8868\u578b\u6570\u636e\u7684 AI \u9a71\u52a8\u7684\u57fa\u56e0\u53d8\u5f02\u5206\u6790\u8f6f\u4ef6\u3002\u5979\u8868\u793a\uff0c\u5176\u7cfb\u7edf\u5df2\u7ecf\u5177\u5907\u4e86\u9488\u5bf9\u7f55\u89c1\u53d8\u5f02\u7684\u5f3a\u5927\u5206\u6790\u80fd\u529b\uff0c\u800c\u4e14\u8fd8\u5728\u4e0d\u65ad\u6539\u8fdb\u3002<\/p>\n

\u00a0 <\/p>\n

Chae \u6559\u6388\u8fd8\u4e0e\u8bb8\u591a\u516c\u5171\u90e8\u95e8\u7684\u7814\u7a76\u9879\u76ee\u5408\u4f5c\uff0c\u7279\u522b\u662f\u97e9\u56fd\u56fd\u5bb6\u751f\u7269\u5927\u6570\u636e\u9879\u76ee (NPBBD)\uff0c\u8be5\u9879\u76ee\u662f\u4e00\u9879\u591a\u90e8\u59d4\u5021\u8bae\uff0c\u65e8\u5728\u4e3a\u97e9\u56fd\u4eba\u53e3\u5f00\u53d1\u7ed3\u5408\u57fa\u56e0\u7ec4\u548c\u4e34\u5e8a\u4fe1\u606f\u7684\u6570\u636e\u96c6\u3002\u8be5\u9879\u76ee\u4e8e 2020 \u5e74\u542f\u52a8\uff0c\u521d\u671f\u4ee5\u7f55\u89c1\u75c5\u60a3\u8005\u961f\u5217\u4f5c\u4e3a\u9996\u6279\u8bd5\u70b9\u5bf9\u8c61\u3002SNUH \u662f\u8be5\u9879\u76ee\u7684\u9886\u5148\u4e2d\u5fc3\u4e4b\u4e00\uff0c\u5728\u8be5\u521d\u671f\u961f\u5217\u4e2d\u5f15\u5165\u4e86\u6570\u5343\u540d\u60a3\u8005\u8fdb\u884c\u5bb6\u7cfb\u4e09\u8054 WGS \u68c0\u6d4b\u3002<\/p>\n

Chae \u6559\u6388\u8868\u793a\uff0c\u5728\u97e9\u56fd\u751f\u7269\u94f6\u884c\u9879\u76ee\u8bd5\u70b9\u9636\u6bb5\u7684\u62db\u52df\u5de5\u4f5c\u4e2d\uff0c\u4ed6\u4eec\u4e3b\u8981\u5173\u6ce8\u672a\u786e\u8bca\u7684\u75c5\u4f8b\uff0c\u4ee5\u53ca\u7ed3\u679c\u5177\u6709\u9ad8\u5ea6\u4e34\u5e8a\u53d8\u5f02\u6027\u7684\u5df2\u77e5\u7f55\u89c1\u75c5\u60a3\u8005\uff0c\u4f8b\u5982\u675c\u5174\u6c0f\u808c\u8425\u517b\u4e0d\u826f\uff08\u8fdb\u884c\u6027\u808c\u8425\u517b\u4e0d\u826f\uff09\u6216 Rett \u7efc\u5408\u5f81\uff0c\u800c WGS \u6570\u636e\u66f4\u6709\u53ef\u80fd\u4e3a\u6cbb\u7597\u5f00\u53d1\u63d0\u4f9b\u7ebf\u7d22\u3002\u4ed6\u4eec\u76ee\u524d\u6b63\u57fa\u4e8e\u8fd9\u4e00\u76ee\u7684\u5206\u6790\u8fd9\u4e9b\u6570\u636e\u3002<\/p>\n

\u4e0e\u5176\u4ed6\u56fd\u5bb6\/\u5730\u533a\u7684\u5176\u4ed6\u516c\u5171\u90e8\u95e8\u751f\u7269\u94f6\u884c\u9879\u76ee\u7c7b\u4f3c\uff0cNPBBD \u76ee\u524d\u6b63\u5728\u542f\u52a8\u7b2c\u4e8c\u9636\u6bb5\uff0c\u65e8\u5728\u62db\u52df\u66f4\u591a\u60a3\u8005\u961f\u5217\uff0c\u5305\u62ec\u5e38\u89c1\u75c5\u548c\u5065\u5eb7\u5bf9\u7167\u60a3\u8005\uff0c\u4ee5\u53ca\u66f4\u591a\u7f55\u89c1\u75c5\u60a3\u8005\uff0c\u4eba\u6570\u6700\u591a\u53ef\u8fbe 100 \u4e07\u3002Chae \u6559\u6388\u4ecd\u7136\u662f\u8be5\u9879\u76ee\u7684\u987e\u95ee\uff0c\u5021\u5bfc\u5176\u8d1f\u8d23\u4eba\u5236\u5b9a\u7a33\u5065\u7684\u8ba1\u5212\uff0c\u4e0e\u7814\u7a76\u4eba\u5458\u5171\u4eab\u6570\u636e\uff0c\u5e76\u5728\u672a\u6765\u51e0\u5e74\u7eb3\u5165\u957f\u8bfb\u6bb5\u6d4b\u5e8f\u6570\u636e\u3002<\/p>\n

Chae \u6559\u6388\u8fd8\u6df1\u5165\u53c2\u4e0e\u4e86\u97e9\u56fd\u672a\u8bca\u65ad\u75be\u75c5\u9879\u76ee (K-UDP)\uff0c\u8be5\u9879\u76ee\u662f Undiagnosed Diseases Network International (UDNI) \u7684\u6210\u5458\u673a\u6784\u3002\u9664\u4e86\u5e2e\u52a9\u5728\u97e9\u56fd\u542f\u52a8\u8be5\u9879\u76ee\u5e76\u53d1\u5e03\u5176\u5de5\u4f5c\u6210\u679c [2] \u5916\uff0c\u5979\u8ba1\u5212\u4e8e 2024 \u5e74 9 \u6708 5 \u65e5\u81f3 7 \u65e5\u5728\u9996\u5c14\u7684 SNUH \u4e3b\u6301\u53ec\u5f00 UDNI 10 \u5468\u5e74\u4f1a\u8bae\u3002<\/p>\n

\u97e9\u56fd\u65b0\u751f\u513f\u7b5b\u67e5\u7684\u613f\u666f<\/h2>\n

\u5728\u7f55\u89c1\u75c5\u7814\u7a76\u548c\u8bca\u65ad\u9886\u57df\u7684\u4f17\u591a\u6d3b\u52a8\u4e2d\uff0cSNUH \u8fd0\u8425\u7740\u8be5\u56fd\u7684\u4e00\u4e2a\u65b0\u751f\u513f\u7b5b\u67e5 (NBS) \u5b9e\u9a8c\u5ba4\u3002Chae \u6559\u6388\u8868\u793a\uff0c\u5728\u97e9\u56fd\u653f\u5e9c\u7684\u8d44\u52a9\u4e0b\uff0c\u516c\u5171 NBS \u7cfb\u7edf\u53ef\u4ee5\u4e3a 60 \u591a\u79cd\u75be\u75c5\u63d0\u4f9b\u751f\u5316\u68c0\u6d4b\u3002<\/p>\n

\u5c3d\u7ba1\u5168\u7403\u8bb8\u591a\u56fd\u5bb6\/\u5730\u533a\u90fd\u5728\u4e3a SMA \u548c SCID \u7b49\u75be\u75c5\u5411 NBS \u68c0\u6d4b\u7ec4\u5408\u6dfb\u52a0\u5206\u5b50\u68c0\u6d4b\uff0c\u4f46 Chae \u6559\u6388\u6307\u51fa\uff0c\u97e9\u56fd\u7684\u516c\u5171 NBS \u7cfb\u7edf\u4e0d\u5305\u542b\u4efb\u4f55\u57fa\u56e0\u7ec4\u7b5b\u67e5\u3002\u76ee\u524d\uff0c\u97e9\u56fd\u7684\u56fd\u5bb6\u4fdd\u9669\u4ec5\u8986\u76d6\u6709\u75c7\u72b6\u60a3\u8005\u7684\u8bca\u65ad\u7ea7\u57fa\u56e0\u7ec4\u68c0\u6d4b\u3002\u6b64\u5916\uff0c\u5730\u65b9\u6cd5\u5f8b\u8981\u6c42\u57fa\u56e0\u68c0\u6d4b\u5fc5\u987b\u83b7\u5f97\u7279\u522b\u540c\u610f\uff0c\u8fd9\u4e0d\u4ec5\u7ed9\u4e34\u5e8a\u533b\u751f\u589e\u52a0\u4e86\u989d\u5916\u7684\u884c\u653f\u8d1f\u62c5\uff0c\u4e5f\u5bf9\u5728\u79c1\u8425\u5e02\u573a\u5f00\u5c55\u5206\u5b50\u68c0\u6d4b\u5f62\u6210\u4e86\u963b\u529b\u3002<\/p>\n

\u4e3a\u8865\u5145\u653f\u5e9c\u8d44\u52a9\u7684 NBS \u7ec4\u5408\u68c0\u6d4b\uff0c\u8bb8\u591a\u97e9\u56fd\u7236\u6bcd\u4f1a\u81ea\u8d39\u8d2d\u4e70\u5f53\u5730\u5e02\u573a\u901a\u79f0\u4e3a”G \u626b\u63cf”\u7684\u68c0\u6d4b\u670d\u52a1\u3002Chae \u6559\u6388\u8868\u793a\uff0c\u8fd9\u7c7b\u670d\u52a1\u672c\u8d28\u4e0a\u662f\u9488\u5bf9\u65e0\u75c7\u72b6\u513f\u7ae5\u8fdb\u884c\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\u4e0e\u5fae\u91cd\u590d\u68c0\u6d4b\u7684\u57fa\u56e0\u82af\u7247\u6280\u672f\u3002\u5f53\u5730\u8bb8\u591a\u516c\u53f8\u90fd\u63d0\u4f9b\u8fd9\u79cd\u670d\u52a1\uff0c\u5e76\u5728\u5206\u5a29\u4e2d\u5fc3\u6253\u51fa\u5927\u91cf\u5e7f\u544a\u3002\u97e9\u56fd\u56fd\u5bb6\u4fdd\u9669\u4e0d\u4e3a\u6b64\u7c7b\u670d\u52a1\u63d0\u4f9b\u4fdd\u9669\uff0c\u4f46\u67d0\u4e9b\u79c1\u4eba\u4fdd\u9669\u8ba1\u5212\u7eb3\u5165\u4e86\u6b64\u7c7b\u670d\u52a1\u3002<\/p>\n

\u00a0 <\/p>\n

Chae \u6559\u6388\u8ba4\u4e3a\uff0c\u8fd9\u79cd NBS \u7cfb\u7edf\u5bf9\u4e8e\u60a3\u8005\u800c\u8a00\u5c5e\u4e8e\u6b21\u4f18\u7ea7\u9009\u9879\u3002\u5979\u5e0c\u671b\u770b\u5230\u66f4\u591a\u7684\u5206\u5b50\u68c0\u6d4b\u88ab\u7eb3\u5165\u5230\u516c\u5171\u548c\u79c1\u4eba NBS \u7ec4\u5408\u68c0\u6d4b\u4e2d\uff0c\u5e76\u5e0c\u671b\u770b\u5230\u5927\u89c4\u6a21\u7684\u7814\u7a76\u9879\u76ee\u6765\u8bc4\u4f30\u97e9\u56fd NBS \u4e0b\u4e00\u4ee3\u6d4b\u5e8f\u7684\u6f5c\u529b\u3002\u4e16\u754c\u5176\u4ed6\u8bb8\u591a\u53d1\u8fbe\u56fd\u5bb6\u5df2\u5f00\u5c55\u6b64\u7c7b\u9879\u76ee\uff0c\u4f46\u97e9\u56fd\u8fd8\u672a\u5b9e\u65bd\u3002<\/p>\n

\u201c\u6211\u4eec\u5fc5\u987b\u52aa\u529b\u6539\u8fdb\u65b0\u751f\u513f\u57fa\u56e0\u7ec4\u7b5b\u67e5\u670d\u52a1\u201d\uff0c\u5979\u8868\u793a\uff0c\u201c\u5c3d\u7ba1\u51fa\u751f\u7387\u6b63\u5728\u4e0b\u964d\uff0c\u4f46\u7236\u6bcd\u5bf9\u5a74\u513f\u5065\u5eb7\u7ba1\u7406\u7684\u5173\u6ce8\u5374\u65e5\u76ca\u589e\u5f3a\u3002G \u626b\u63cf\u670d\u52a1\u68c0\u6d4b\u51fa\u7684\u75be\u75c5\u7c7b\u578b\uff0c\u5927\u591a\u5728\u4e34\u5e8a\u6cbb\u7597\u4e0a\u7f3a\u4e4f\u6709\u6548\u5e72\u9884\u624b\u6bb5\u3002\u6211\u4eec\u9700\u8981\u627e\u5230\u66f4\u597d\u7684\u65b9\u6cd5\u6765\u5e2e\u52a9\u6700\u80fd\u53d7\u76ca\u7684\u513f\u7ae5\u3002\u201d<\/p>\n

\u9274\u4e8e\u5176\u4ed6\u8bb8\u591a\u56fd\u5bb6\/\u5730\u533a\u7ee7\u7eed\u91c7\u7528\u57fa\u56e0\u7ec4 NBS\uff0c\u5728\u97e9\u56fd\u91c7\u7528\u8be5\u6280\u672f\u4f3c\u4e4e\u5df2\u6210\u5fc5\u7136\u3002\u5373\u4fbf\u5982\u6b64\uff0c\u8981\u5b9e\u73b0\u7f55\u89c1\u75c5\u60a3\u8005\u53ca\u5176\u62a4\u7406\u8005\u8feb\u5207\u9700\u8981\u7684\u53d8\u9769\uff0c\u4ecd\u9700\u4f9d\u9760\u6574\u4e2a\u751f\u6001\u7cfb\u7edf\u4e2d\u5404\u65b9\u53c2\u4e0e\u8005\u7684\u5171\u540c\u52aa\u529b\uff0c\u4ee5\u53ca\u50cf Chae \u6559\u6388\u8fd9\u6837\u7684\u7f55\u89c1\u75c5\u9886\u57df\u5148\u9a71\u8005\u7684\u6301\u7eed\u5f15\u9886\u3002<\/p>\n

\u672c\u6587\u7531 Roche Diagnostics Asia Pacific \u533b\u7597\u4e8b\u52a1\u8d1f\u8d23\u4eba Will Greene \u64b0\u5199\uff0c\u5e76\u5f97\u5230\u4e86 Roche Diagnostics Korea \u56e2\u961f\u548c Roche Pharmaceuticals Korea \u56e2\u961f\u7684\u652f\u6301\u3002\u672c\u6587\u4f5c\u8005\u5728\u6b64\u611f\u8c22\u4ee5\u4e0b\u7f55\u89c1\u75c5\u8bca\u65ad\u9886\u57df\u4e13\u5bb6\u4e3a\u672c\u6587\u63d0\u4f9b\u7684\u80cc\u666f\u4fe1\u606f\u4e0e\u4e13\u4e1a\u652f\u6301\uff1aCatholic University of Korea \u7684 Seoul St Mary\u2019s Hospital \u68c0\u9a8c\u533b\u5b66\u79d1\u6559\u6388 Myungshin Kim \u535a\u58eb\u3001MedySapiens \u516c\u53f8\u9996\u5e2d\u6267\u884c\u5b98 Sanggoo Kang\uff0c\u4ee5\u53ca 3billion \u516c\u53f8\u9996\u5e2d\u6267\u884c\u5b98 Changwon Keum\u3002<\/em><\/p>\n

\n

\u53c2\u8003\u8d44\u6599\uff1a<\/em><\/p>\n

\n[1]<\/a> http:\/\/www.snuh.org\/global\/en\/about\/newsView.do?bbs_no=6483
\n[2]<\/a>\u00a0Kim, S.Y. et al. (2022) \u2018The 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.<\/p>\n","protected":false},"excerpt":{"rendered":"

Jong-Hee Chae \u6559\u6388\u662f\u97e9\u56fd\u6700\u77e5\u540d\u7684\u7f55\u89c1\u9057\u4f20\u75c5\u4e13\u5bb6\u4e4b\u4e00\uff0c\u540c\u65f6\u4e5f\u662f\u97e9\u56fd\u9886\u5148\u7684\u5b66\u672f\u6027\u533b\u5b66\u673a\u6784\u4e4b\u4e00 Seoul National University Hospital (SNUH) \u7684\u4e34\u5e8a\u57fa\u56e0\u7ec4\u533b\u5b66\u7cfb\u6559\u6388\u517c\u7f55\u89c1\u75c5\u4e2d\u5fc3\u4e3b\u4efb\u3002 \u5728 Chae \u6559\u6388\u7684\u4f17\u591a\u804c\u8d23\u4e2d\uff0c\u5979\u5728\u591a\u4e2a\u65e8\u5728\u6539\u5584\u97e9\u56fd\u7f55\u89c1\u75c5\u8bca\u65ad\u7684\u91cd\u8981\u9879\u76ee\u4e2d\u53d1\u6325\u7740\u5173\u952e\u4f5c\u7528\u3002\u5728\u6700\u8fd1\u4e0e Lab Insights \u7684\u8ba8\u8bba\u4e2d\uff0c\u5979\u5206\u4eab\u4e86\u5de5\u4f5c\u7684\u6700\u65b0\u8fdb\u5c55\uff0c\u5e76\u5bf9\u7f29\u77ed\u60a3\u8005\u8bca\u65ad\u5386\u7a0b\u6240\u9700\u7684\u6761\u4ef6\u63d0\u51fa\u4e86\u770b\u6cd5\u3002 SNUH Rare Disease Centre \u7684\u4e34\u5e8a\u8bca\u65ad SNUH Rare Disease Centre \u6210\u7acb\u4e8e 2010 \u5e74\uff0c\u5c06\u81ea\u8eab\u5b9a\u4f4d\u4e3a\u97e9\u56fd\u9996\u4e2a\u9762\u5411\u7f55\u89c1\u75c5\u60a3\u8005\u7684\u591a\u5b66\u79d1\u3001\u7efc\u5408\u6027\u533b\u7597\u7cfb\u7edf\u3002\u4f5c\u4e3a\u4e2d\u5fc3\u4e3b\u4efb\uff0cChae \u6559\u6388\u8d1f\u8d23\u76d1\u7ba1 70 \u591a\u4e2a\u513f\u79d1\u53ca\u6210\u4eba\u60a3\u8005\u8bca\u6240\uff08\u5979\u8fd8\u662f\u513f\u79d1\u795e\u7ecf\u79d1\u533b\u751f\uff0c\u5728 SNUH Children\u2019s Hospital \u4e3a\u60a3\u8005\u770b\u8bca\uff09\u3002 \u5bf9\u4e8e\u5c1a\u672a\u786e\u8bca\u7684\u60a3\u8005\uff0cSNUH Rare Disease Centre \u63d0\u4f9b\u97e9\u56fd\u6700\u5148\u8fdb\u7684\u57fa\u56e0\u68c0\u6d4b\u3002\u867d\u7136\u5168\u56fd\u5927\u591a\u6570\u513f\u7ae5\u533b\u9662\u90fd\u6709\u80fd\u529b\u8fdb\u884c\u5e38\u89c4\u57fa\u56e0\u68c0\u6d4b\uff0c\u4f8b\u5982\u4f7f\u7528\u5e02\u552e\u7684 NGS \u7ec4\u5408\u68c0\u6d4b\u548c\u57fa\u56e0\u82af\u7247\uff0c\u4f46 SNUH 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