{"id":146514,"date":"2024-05-24T02:05:27","date_gmt":"2024-05-24T02:05:27","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%ed%95%9c%ea%b5%ad%ec%9d%98-%ed%9d%ac%ea%b7%80-%ec%a7%88%ed%99%98-%ec%a7%84%eb%8b%a8-%ea%b0%9c%ec%84%a0-jong-hee-chae-%ea%b5%90%ec%88%98\/"},"modified":"2026-02-18T12:17:26","modified_gmt":"2026-02-18T12:17:26","slug":"improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ko\/disease-area\/rare-diseases\/improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae\/","title":{"rendered":"\ud55c\uad6d\uc758 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8 \uac1c\uc120: Jong-Hee Chae \uad50\uc218"},"content":{"rendered":"

\ud55c\uad6d \ucd5c\uace0\uc758 \ud76c\uadc0 \uc720\uc804 \uc9c8\ud658 \uc804\ubb38\uac00\ub85c \ub110\ub9ac \uc778\uc815\ubc1b\uace0 \uc788\ub294 Jong-Hee Chae \uad50\uc218\ub294 \uad6d\ub0b4 \uc720\uc218\uc758 \ud559\uc220 \uc758\ub8cc\uae30\uad00 \uc911 \ud558\ub098\uc778 Rare Disease Centre at Seoul National University Hospital (SNUH)<\/a> \ub514\ub809\ud130 \uacb8 \uc784\uc0c1\uc720\uc804\uccb4\uc758\ud559\uacfc \uad50\uc218\ub85c \uc7ac\uc9c1 \uc911\uc785\ub2c8\ub2e4.<\/p>\n

Chae \uad50\uc218\ub294 \uc5ec\ub7ec \ucc45\ubb34 \uac00\uc6b4\ub370 \ud55c\uad6d\uc758 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8 \uac1c\uc120\uc744 \uc704\ud55c \uc5ec\ub7ec \uc911\uc694\ud55c \uc0ac\uc5c5\uc5d0\uc11c \ud575\uc2ec\uc801 \uc5ed\ud560\uc744 \ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ucd5c\uadfc Lab Insights\uc640\uc758 \ud1a0\ub860\uc5d0\uc11c \uadf8\ub140\ub294 \uc5f0\uad6c\uc5d0 \ub300\ud55c \ucd5c\uc2e0 \uc18c\uc2dd\uacfc \ud658\uc790\ub97c \uc704\ud55c \uae30\ub098\uae34 \uc9c4\ub2e8 \uc5ec\uc815\uc744 \ub2e8\ucd95\ud558\ub294 \ub370 \ud544\uc694\ud55c \uc0ac\ud56d\uc5d0 \ub300\ud55c \uc131\ucc30\uc744 \uacf5\uc720\ud588\uc2b5\ub2c8\ub2e4.<\/p>\n

SNUH Rare Disease Centre\uc758 \uc784\uc0c1 \uc9c4\ub2e8<\/h2>\n

2010\ub144 \uc124\ub9bd\ub41c SNUH Rare Disease Centre\ub294 \uad6d\ub0b4 \ucd5c\ucd08\ub85c \ud76c\uadc0\uc9c8\ud658\uc790\ub97c \uc704\ud55c \ub2e4\ud559\uc81c \ud1b5\ud569\uc758\ub8cc\uc2dc\uc2a4\ud15c\uc73c\ub85c \uc790\ub9ac\ub9e4\uae40\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. Chae \uad50\uc218\ub294 \uc13c\ud130\uc7a5\uc73c\ub85c\uc11c \uc18c\uc544\u00b7\uc131\uc778 \ud658\uc790\ub97c \uc704\ud55c 70\uc5ec \uac1c \uac1c\ubcc4 \ud074\ub9ac\ub2c9\uc744 \ucd1d\uad04\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4(\uc18c\uc544\uc2e0\uacbd\uacfc \uc804\ubb38\uc758\ub85c\ub3c4 \ud65c\ub3d9\ud558\uba70, SNUH Children\u2019s Hospital\uc5d0\uc11c \ud658\uc790 \uc9c4\ub8cc).<\/p>\n

\uc544\uc9c1 \uc9c4\ub2e8\ub418\uc9c0 \uc54a\uc740 \ud658\uc790\ub97c \uc704\ud574 SNUH Rare Disease Centre\ub294 \ud55c\uad6d\uc5d0\uc11c \uac00\uc7a5 \uc815\uad50\ud55c \uc720\uc804\uc790 \uac80\uc0ac \uc791\uc5c5\uc744 \uc81c\uacf5\ud569\ub2c8\ub2e4. \uc804\uad6d\uc758 \ub300\ubd80\ubd84\uc758 \uc5b4\ub9b0\uc774 \ubcd1\uc6d0\uc740 \uc0c1\uc5c5\uc801\uc73c\ub85c \uc774\uc6a9 \uac00\ub2a5\ud55c NGS \ud328\ub110 \ubc0f \ub9c8\uc774\ud06c\ub85c\uc5b4\ub808\uc774\uc640 \uac19\uc740 \uc77c\uc0c1\uc801\uc778 \uc720\uc804\uc790 \uac80\uc0ac\ub97c \uc218\ud589\ud560 \uc218 \uc788\ub294 \ub2a5\ub825\uc744 \uac00\uc9c0\uace0 \uc788\uc9c0\ub9cc SNUH\ub294 \uac00\uc7a5 \ubcf5\uc7a1\ud558\uace0 \uae4c\ub2e4\ub85c\uc6b4 \uc0ac\ub840\ub97c \ub9e1\ub294 \uacbd\ud5a5\uc774 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

SNUH Rare Disease Centre\uac00 \uc8fc\ub825\ud558\ub294 \ubd84\uc57c\ub294 \uc720\uc99d\uc0c1 \ud658\uc790\uc758 \uc2e0\uc18d\ud55c \uac8c\ub188 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\uc785\ub2c8\ub2e4. Chae \uad50\uc218\uc758 \uc13c\ud130\ub294 \ubcf4\ud1b5 \uc218\uac1c\uc6d4\uc774 \uac78\ub9ac\ub294 \uc77c\ubc18\uc801\uc778 \uc720\uc804\uc790 \uac80\uc0ac\uc640 \ub2ec\ub9ac \ud2b9\ud788 \uae34\uae09\ud55c \uacbd\uc6b0 \uc218 \uc8fc \uc774\ub0b4\ub85c \uc2e0\uc0dd\uc544\uc2e4\uc774\ub098 \uc18c\uc544\uc911\ud658\uc790\uc2e4\uc5d0\uc11c \uacb0\uacfc\ub97c \ubc1b\uc544\ubcfc \uc218 \uc788\uc2b5\ub2c8\ub2e4. \uc774\ub7ec\ud55c \uc2e0\uc18d\ud55c \uc11c\ube44\uc2a4\ub294 \ud55c\uad6d\uc758 \uad6d\ubbfc\uac74\uac15\ubcf4\ud5d8\uc5d0\uc11c \ubcf4\uc7a5\ud558\uc9c0 \uc54a\uc9c0\ub9cc, \ubcd1\uc6d0\uc774\ub098 \uacf5\uacf5\uc758\ub8cc\uc0ac\uc5c5, \uc9c0\uc5ed NGO\ub97c \ud1b5\ud574 \uc7ac\uc6d0\uc774 \uac00\ub2a5\ud55c \uacbd\uc6b0\ub3c4 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

SNUH Rare Disease Centre\uc5d0\uc11c\uc758 \uc2e0\uc18d\ud55c \uac80\uc0ac\uc5d0 \ub300\ud55c \ud55c \uac00\uc9c0 \uc811\uadfc \ubc29\uc2dd\uc740 \ucc44 \uad50\uc218\uac00 \ucd5c\ucca8\ub2e8 AI, \uc0dd\ubb3c\uc815\ubcf4\ud559, \uc720\uc804\uccb4\ud559\uc774 \uad50\ucc28\ud558\ub294 \uc9c0\uc810\uc5d0\uc11c \uc81c\ud488 \ubc0f \uc11c\ube44\uc2a4\ub97c \uac1c\ubc1c\ud558\ub294 \ud604\uc9c0 \ubbfc\uac04 \uae30\uc5c5\uc778 MedySapiens\uc640 \uacf5\ub3d9 \uac1c\ubc1c\ud55c NGS \ud328\ub110\uc744 \ud1b5\ud55c \uac83\uc785\ub2c8\ub2e4. \uc774 \ud328\ub110\uc740 \uc8fc\ub85c \ud55c\uad6d\uc5d0\uc11c \ub9e4\uc6b0 \ud6a8\uacfc\uc801\uc778 \uce58\ub8cc\ubc95\uc774 \uc774\uc6a9 \uac00\ub2a5\ud55c \uc870\uac74\uc5d0 \ub300\ud574 \uc57d 270\uac1c\uc758 \uc720\uc804\uc790\ub97c \ub2e4\ub8f9\ub2c8\ub2e4. \uc774 \uc720\uc804\uc790 \ubaa9\ub85d\uc740 \uc720\uc804\uccb4 \uc758\ud559 \ubc0f \ud658\uae09\uc758 \ucd5c\uc2e0 \ubc1c\uc804\uc5d0 \ubcf4\uc870\ub97c \ub9de\ucd94\uae30 \uc704\ud574 \uc815\uae30\uc801\uc73c\ub85c \uc5c5\ub370\uc774\ud2b8\ub429\ub2c8\ub2e4.<\/p>\n

\ud55c\uad6d\uc5d0\uc11c \uc774\uc6a9\ud560 \uc218 \uc788\ub294 \ubcf4\ub2e4 \ud3ec\uad04\uc801\uc778 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d \uc11c\ube44\uc2a4\uc5d0 \ube44\ud574 SNUH Rare Disease Centre\uc758 NGS \ud328\ub110\uc740 \ube44\uc6a9\uc774 \uc800\ub834\ud558\uace0 \ucc98\ub9ac \uc2dc\uac04\uc774 \ube60\ub974\ub2e4\ub294 \uac83\uc774 Chae \uad50\uc218\uc758 \uc124\uba85\uc785\ub2c8\ub2e4. \ud55c\uad6d\uc5d0\uc11c \uc0ac\uc2e4\uc0c1 \ubaa8\ub4e0 \uc2e0\uc0dd\uc544\uac00 \ubc1b\ub294 \ud45c\uc900 \uc2e0\uc0dd\uc544 \uc120\ubcc4\uac80\uc0ac\uc640 \ub3d9\uc77c\ud55c \ud608\ud754(DBS) \ubb3c\uc9c8\uacfc\ub3c4 \ud568\uaed8 \uc0ac\uc6a9\ud560 \uc218 \uc788\uc5b4 \ubc18\ub4dc\uc2dc \ucd94\uac00 \ucc44\ud608\uc774\ub098 \ub300\ub7c9\uc758 \uac80\uccb4\uac00 \ud544\uc694\ud558\uc9c0 \uc54a\uc73c\uba70, \uc774\ub294 \ub54c\ub54c\ub85c \uc2e0\uc0dd\uc544 \ub610\ub294 \uc704\uc911\ud55c \uc0c1\ud0dc\uc758 \uc18c\uc544\uc5d0\uac8c \uad8c\uc7a5\ub418\uc9c0 \uc54a\uc2b5\ub2c8\ub2e4.<\/p>\n

\ud328\ub110\uc5d0 \uc5c6\ub294 \ubcd1\ud0dc\uac00 \uc758\uc2ec\ub418\uac70\ub098 \uc774\ubbf8 \ub2e4\ub978 \uc13c\ud130\uc5d0\uc11c \ubcf4\ub2e4 \uc77c\uc0c1\uc801\uc778 \uc720\uc804\uc790 \uac80\uc0ac\ub97c \ubc1b\uc740 \ud658\uc790\uc758 \uacbd\uc6b0, \ub610 \ub2e4\ub978 \uc635\uc158\uc740 \uc0bc\uc911 \uae30\ubc18 \uc2e0\uc18d \uc804\uccb4 \uc5d1\uc19c \ub610\ub294 \uac8c\ub188 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d(rWES\/rWGS)\uc744 \uc9c4\ud589\ud558\ub294 \uac83\uc785\ub2c8\ub2e4. Chae \uad50\uc218\ub294 \ud328\ub110 \uac80\uc0ac\ubcf4\ub2e4 \uacb0\uacfc\uac00 \ub098\uc62c \uac00\ub2a5\uc131\uc774 \ub192\uc9c0\ub9cc, \uacb0\uacfc\ub97c \ud574\uc11d\ud558\uae30 \uc704\ud574\uc11c\ub294 \ud658\uc790\uc640 \ubd80\ubaa8 \ubaa8\ub450\uc758 \ucd94\uac00 \ucc44\ud608\uacfc \ub354 \ub9ce\uc740 \uc784\uc0c1 \ubc0f \uc815\ubcf4\ud559 \uc804\ubb38\uc9c0\uc2dd\uc774 \ud544\uc694\ud558\ub2e4\uace0 \ub9d0\ud569\ub2c8\ub2e4.<\/p>\n

rWES\uc640 rWGS\ub3c4 \ud328\ub110 \ud14c\uc2a4\ud2b8\ubcf4\ub2e4 \ube44\uc6a9\uc774 \ub9ce\uc774 \ub4ed\ub2c8\ub2e4. \uadf8\ub4e4\uc740 \uad6d\uac00 \ubcf4\ud5d8\uc5d0\uc11c \ubcf4\uc7a5\ub418\uc9c0 \uc54a\uc9c0\ub9cc, \uc18c\uc544 \ud76c\uadc0 \uc9c8\ud658\uc5d0 \ub300\ud55c \uc9c4\ub2e8 \ubc0f \uc784\uc0c1 \uc11c\ube44\uc2a4\ub97c \uc9c0\uc6d0\ud558\uae30 \uc704\ud574 600\uc5b5 \ub2ec\ub7ec(4\ucc9c 400\ub9cc \ub2ec\ub7ec)\ub97c \ud3ec\ud568\ud558\ub294 10\ub144 \uc5f0\uad6c \ubc0f \uacf5\uc911 \ubcf4\uac74 \uc774\ub2c8\uc154\ud2f0\ube0c\uc778 Lee Kun-Hee Childhood Cancer & Rare Disease Project\uc640 \uac19\uc740 \ud504\ub85c\uadf8\ub7a8\uc744 \ud1b5\ud574 \uc790\uae08 \uc9c0\uc6d0\uc744 \ub54c\ub54c\ub85c \uc774\uc6a9\ud560 \uc218 \uc788\uc2b5\ub2c8\ub2e4 [1]. \uc774 \uc774\ub2c8\uc154\ud2f0\ube0c\ub97c \uc704\ud55c \ud14c\uc2a4\ud2b8 \ubc0f \uc870\uc815\uc758 \ub300\ubd80\ubd84\uc740 SNUH\ub97c \ud1b5\ud574 \uc774\ub8e8\uc5b4\uc9c0\uc9c0\ub9cc \uae30\uae08\uc740 \ud55c\uad6d\uc758 \ub9ce\uc740 \uc13c\ud130\uc5d0 \ubc30\ud3ec\ub429\ub2c8\ub2e4.<\/p>\n

\ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8 \uc5f0\uad6c \uc8fc\ub3c4<\/h2>\n

SNUH Rare Disease Centre\uc5d0\uc11c \uace0\ucd9c\ub825 \uac80\uc0ac\uac00 \uac00\ub2a5\ud558\uc9c0\ub9cc Chae \uad50\uc218\ub294 \uc790\uc2e0\uc758 \ud074\ub9ac\ub2c9 \ud658\uc790 \uc808\ubc18 \uc774\uc0c1\uc774 \uc815\ud655\ud558\uace0 \uc2dc\uae30 \uc801\uc808\ud55c \uc9c4\ub2e8\uc744 \ubc1b\ub3c4\ub85d \uc5ec\uc804\ud788 \uc560\uc4f0\uace0 \uc788\ub2e4\uace0 \ud55c\ud0c4\ud569\ub2c8\ub2e4. \uc774\ub7ec\ud55c \uc774\uc720\ub85c \uadf8\ub140\ub294 \ub610\ud55c \ud14c\uc2a4\ud2b8\uc758 \ud601\uc2e0\uc744 \uc8fc\ub3c4\ud558\uace0 \uc9c4\ub2e8 \uc218\uc728\uc744 \ub192\uc774\uba70 \uc804\ubc18\uc801\uc778 \ud488\uc9c8, \uc18d\ub3c4 \ubc0f \ube44\uc6a9\uc744 \uac1c\uc120\ud558\ub294 \uac83\uc744 \ubaa9\ud45c\ub85c \ud558\ub294 \uac8c\ub188 \uc5f0\uad6c \ud504\ub85c\uc81d\ud2b8\uc5d0 \uae30\uc5ec\ud558\ub294 \ub370 \ub9ce\uc740 \uc2dc\uac04\uc744 \ud560\uc560\ud569\ub2c8\ub2e4.<\/p>\n

\ud55c\uad6d\uc740 \uc720\uc804\uc790 \uac80\uc0ac \uacf5\uac04\uc5d0\uc11c \uae30\uc5c5\uac00\uc801 \uc0dd\ud0dc\uacc4\uac00 \ud0c4\ud0c4\ud558\uba70, \uc774\ub7ec\ud55c \uc0ac\uc5c5 \uc911 \uc77c\ubd80\ub294 \ubbfc\uac04 \uae30\uc5c5\uacfc\uc758 \ud30c\ud2b8\ub108\uc2ed\uc744 \ud1b5\ud574 \ucd94\uc9c4\ub429\ub2c8\ub2e4. \ud55c \uc608\ub85c Chae \uad50\uc218\ub294 \ud76c\uadc0\uc9c8\ud658 \uac80\uc0ac \ubc0f \uae30\uc220 \uc11c\ube44\uc2a4 \uc81c\uacf5\uc5c5\uccb4\uc778 3billion\uacfc \ud611\uc5c5\ud574 \uc720\uc804\uc790\ud615-\ud45c\ud604\ud615 \ub370\uc774\ud130\ub97c \uae30\ubc18\uc73c\ub85c \ud55c AI \uae30\ubc18 \uc720\uc804\uc790 \ubcc0\uc774 \uc18c\ud504\ud2b8\uc6e8\uc5b4\ub97c \uac1c\ubc1c\ud569\ub2c8\ub2e4. \uadf8\ub140\ub294 \uadf8\ub4e4\uc758 \uc2dc\uc2a4\ud15c\uc774 \uc774\ubbf8 \ud76c\uadc0 \ubcc0\uc885\uc5d0 \ub300\ud55c \uc778\uc0c1\uc801\uc778 \ubd84\uc11d \ub2a5\ub825\uc744 \uac00\uc9c0\uace0 \uc788\uc73c\uba70 \uc5ec\uc804\ud788 \uac1c\uc120\ub418\uace0 \uc788\ub2e4\uace0 \ub9d0\ud569\ub2c8\ub2e4.<\/p>\n

Chae \uad50\uc218\ub294 \ub610\ud55c \ud55c\uad6d \uc778\uad6c\uc5d0 \ub300\ud55c \uac8c\ub188 \uc815\ubcf4\uc640 \uc784\uc0c1 \uc815\ubcf4\ub97c \uacb0\ud569\ud55c \ub370\uc774\ud130 \uc138\ud2b8\ub97c \uac1c\ubc1c\ud558\uae30 \uc704\ud55c \ub2e4\ubd80\ucc98 \uc774\ub2c8\uc154\ud2f0\ube0c\uc778 \ub9ce\uc740 \uacf5\uacf5 \ubd80\ubb38 \uc5f0\uad6c \ud504\ub85c\uc81d\ud2b8, \ud2b9\ud788 Korea National Project of Bio Big Data(NPBBD)\uc640 \ud611\ub825\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. 2020\ub144\uc5d0 \uc2dc\uc791\ub41c \uc774 \ud504\ub85c\uc81d\ud2b8\ub294 \ucc98\uc74c\uc5d0\ub294 \ud76c\uadc0 \uc9c8\ud658 \ud658\uc790 \ucf54\ud638\ud2b8\uc5d0\uc11c \uc2dc\ubc94 \uc6b4\uc601\ub418\uc5c8\uc2b5\ub2c8\ub2e4. SNUH\ub294 \uc774 \ud504\ub85c\uc81d\ud2b8\uc758 \uc8fc\uc694 \uc13c\ud130 \uc911 \ud558\ub098\uc600\uc73c\uba70 \uc774 \ucd08\uae30 \ucf54\ud638\ud2b8\uc758 \uc77c\ubd80\ub85c \uc0bc\uc911 \uae30\ubc18 WGS \uac80\uc0ac\ub97c \uc704\ud55c \uc218\ucc9c \uba85\uc758 \ud658\uc790\ub97c \uc720\uce58\ud588\uc2b5\ub2c8\ub2e4.<\/p>\n

Chae \uad50\uc218\ub294 \ud55c\uad6d \ubc14\uc774\uc624\ubc45\ud06c \ud504\ub85c\uc81d\ud2b8 \ubaa8\uc9d1\uacfc\uc815\uc5d0\uc11c \uc8fc\ub85c \uc9c4\ub2e8\ub418\uc9c0 \uc54a\uc740 \uc0ac\ub840, \ub4c0\uc13c \uadfc\uc721 \uc774\uc601\uc591\uc99d\uc774\ub098 \ub808\ud2b8 \uc99d\ud6c4\uad70\ucc98\ub7fc \uc784\uc0c1\uc801 \ubcc0\ub3d9\uc131\uc774 \ud06c\uace0 WGS \ub370\uc774\ud130\uac00 \uce58\ub8cc\uc81c \uac1c\ubc1c\uc758 \uc2e4\ub9c8\ub9ac\ub97c \uc81c\uacf5\ud560 \uac00\ub2a5\uc131\uc774 \ud070 \ud76c\uadc0\uc9c8\ud658 \ud658\uc790\ub4e4\uc5d0 \ucd08\uc810\uc744 \ub9de\ucdc4\ub2e4\uace0 \ubc1d\ud614\uc2b5\ub2c8\ub2e4. \ud604\uc7ac \uadf8\ub7ec\ud55c \ubaa9\uc801\uc744 \uc704\ud574 \ub370\uc774\ud130\ub97c \ubd84\uc11d\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

\ub2e4\ub978 \uad6d\uac00\uc758 \ub2e4\ub978 \uacf5\uacf5 \ubd80\ubb38 \ubc14\uc774\uc624\ubc45\ud06c \ud504\ub85c\uc81d\ud2b8\uc640 \ub9c8\ucc2c\uac00\uc9c0\ub85c NPBBD\ub294 \uc774\uc81c \ub354 \ud754\ud55c \uc9c8\ubcd1\uacfc \uac74\uac15\ud55c \ud1b5\uc81c\ub825\uc744 \uac00\uc9c4 \ud658\uc790\uc640 \ub354 \ub9ce\uc740 \ud76c\uadc0 \uc9c8\ud658 \ud658\uc790\ub97c \ud3ec\ud568\ud558\uc5ec \ucd5c\ub300 100\ub9cc \uba85\uc758 \ud658\uc790\ub85c \uad6c\uc131\ub41c \ub354 \ud070 \ucf54\ud638\ud2b8\ub97c \ubaa8\uc9d1\ud558\ub294 \uac83\uc744 \ubaa9\ud45c\ub85c \ud558\ub294 \ub450 \ubc88\uc9f8 \ub2e8\uacc4\ub97c \uc2dc\uc791\ud558\ub294 \uc911\uc785\ub2c8\ub2e4. Chae \uad50\uc218\ub294 \uc774 \ud504\ub85c\uc81d\ud2b8\uc758 \uc790\ubb38\uc704\uc6d0\uc73c\ub85c\uc11c \ub9ac\ub354\ub4e4\uc774 \uc5f0\uad6c\uc790\ub4e4\uacfc \ub370\uc774\ud130\ub97c \uacf5\uc720\ud558\uae30 \uc704\ud55c \uac15\ub825\ud55c \uacc4\ud68d\uc744 \uac1c\ubc1c\ud558\uace0 \ud5a5\ud6c4 \uba87 \ub144 \ub3d9\uc548 \uae34 \uc77d\uae30\uc758 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d \ub370\uc774\ud130\ub97c \ud1b5\ud569\ud560 \uac83\uc744 \uad8c\uc7a5\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

Chae \uad50\uc218\ub294 ndiagnosed Diseases Network International(UDNI)\uc758 \ud68c\uc6d0\uc778 Korea Undiagnosed Diseases Programme(K-UDP)\uc5d0\ub3c4 \uae4a\uc219\uc774 \ucc38\uc5ec\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ud55c\uad6d\uc5d0\uc11c \ud504\ub85c\uadf8\ub7a8\uc744 \uc2dc\uc791\ud558\uace0 \uadf8 \uacb0\uacfc\ub97c \ubc1c\ud45c\ud558\ub294 \uac83\uc744 \ub3d5\ub294 \uac83 \uc678\uc5d0\ub3c4 [2], \uadf8\ub140\ub294 2024\ub144 9\uc6d4 5\uc77c\uc5d0\uc11c 7\uc77c \uc0ac\uc774\uc5d0 \uc11c\uc6b8\uc758 SNUH\uc5d0\uc11c UDNI\uc758 10\uc8fc\ub144 \ud68c\uc758\ub97c \uac1c\ucd5c\ud560 \uacc4\ud68d\uc785\ub2c8\ub2e4.<\/p>\n

\ud55c\uad6d \ub0b4 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac \ube44\uc804<\/h2>\n

\ud76c\uadc0 \uc9c8\ud658 \uc5f0\uad6c \ubc0f \uc9c4\ub2e8 \ubd84\uc57c\uc5d0\uc11c \ub9ce\uc740 \ud65c\ub3d9 \uc911 SNUH\ub294 \uad6d\ub0b4 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac(NBS) \uc2e4\ud5d8\uc2e4 \uc911 \ud558\ub098\ub97c \uc6b4\uc601\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. Chae \uad50\uc218\uc5d0 \ub530\ub974\uba74 \ud55c\uad6d \uc815\ubd80\uc758 \uc9c0\uc6d0\uc744 \ubc1b\ub294 \uacf5\uacf5 NBS \uc2dc\uc2a4\ud15c\uc740 60\uac00\uc9c0 \uc774\uc0c1\uc758 \uc870\uac74\uc5d0 \ub300\ud55c \uc0dd\ud654\ud559 \uac80\uc0ac\ub97c \uc81c\uacf5\ud569\ub2c8\ub2e4.<\/p>\n

\uc804 \uc138\uacc4 \ub9ce\uc740 \uad6d\uac00\uc5d0\uc11c SMA, SCID \ub4f1\uc758 \uc870\uac74\uc5d0 \ub300\ud55c \ubd84\uc790\uc9c4\ub2e8 \uac80\uc0ac\ub97c NBS \ud328\ub110\uc5d0 \ucd94\uac00\ud558\ub294 \uacfc\uc815\uc5d0 \uc788\uc9c0\ub9cc, \ud55c\uad6d\uc758 \uacf5\uacf5 NBS \uc2dc\uc2a4\ud15c\uc5d0\ub294 \uac8c\ub188 \uc120\ubcc4\uc774 \ud3ec\ud568\ub418\uc5b4 \uc788\uc9c0 \uc54a\ub2e4\uace0 Chae \uad50\uc218\ub294 \uc9c0\uc801\ud569\ub2c8\ub2e4. \ud604\uc7ac \ud55c\uad6d\uc758 \uad6d\ubbfc\ubcf4\ud5d8\uc740 \uc720\uc99d\uc0c1 \ud658\uc790\uc5d0 \ub300\ud55c \uc9c4\ub2e8 \ub4f1\uae09 \uc720\uc804\uccb4 \uac80\uc0ac\ub9cc \ubcf4\uc7a5\ud569\ub2c8\ub2e4. \ub354\uc6b1\uc774 \ud604\uc9c0 \ubc95\ub960\uc740 \uc720\uc804\uc790 \uac80\uc0ac\uc5d0 \ub300\ud55c \ud2b9\ubcc4\ud55c \ub3d9\uc758\ub97c \ud544\uc694\ub85c \ud558\uc5ec \uc784\uc0c1\uc758\ub97c \uc704\ud55c \ucd94\uac00 \uad00\ub9ac \uc791\uc5c5\uacfc \ubbfc\uac04 \uc2dc\uc7a5\uc5d0 \ubd84\uc790 \uac80\uc0ac\ub97c \ubc30\uce58\ud558\ub294 \ub370 \ub300\ud55c \uc778\uc13c\ud2f0\ube0c\ub97c \ubd80\uc5ec\ud569\ub2c8\ub2e4.<\/p>\n

\uc815\ubd80\uac00 \uc9c0\uc6d0\ud558\ub294 NBS \ud328\ub110\uc744 \ubcf4\uc644\ud558\uae30 \uc704\ud574 \ub9ce\uc740 \ud55c\uad6d \ubd80\ubaa8\ub4e4\uc774 \ud604\uc9c0 \uc2dc\uc7a5\uc5d0\uc11c ‘G-scanning’\uc73c\ub85c \uc54c\ub824\uc9c4 \uc11c\ube44\uc2a4\ub97c \uad6c\uc785\ud569\ub2c8\ub2e4. \uc774\ub4e4\uc740 \uae30\ubcf8\uc801\uc73c\ub85c \ubb34\uc99d\uc0c1 \uc5b4\ub9b0\uc774\uc758 \ubbf8\uc138 \uacb0\uc2e4 \ubc0f \ubcf5\uc81c\ub97c \uc704\ud55c \uc5fc\uc0c9\uccb4 \ub9c8\uc774\ud06c\ub85c\uc5b4\ub808\uc774\ub77c\uace0 Chae \uad50\uc218\ub294 \ub9d0\ud569\ub2c8\ub2e4. \uc774\ub4e4\uc740 \ub9ce\uc740 \uc9c0\uc5ed \ud68c\uc0ac\uc5d0\uc11c \uc81c\uacf5\ub418\uba70 \ucd9c\uc0b0 \uc13c\ud130\uc5d0\uc11c \ub300\ub300\uc801\uc73c\ub85c \uad11\uace0\ud569\ub2c8\ub2e4. \uc774\ub4e4\uc740 \ud55c\uad6d\uc758 \uad6d\uac00 \ubcf4\ud5d8\uc5d0\ub294 \uac00\uc785\ub418\uc5b4 \uc788\uc9c0 \uc54a\uc9c0\ub9cc \uc77c\ubd80 \ubbfc\uac04\ubcf4\ud5d8\uc5d0\ub294 \ud3ec\ud568\ub418\uc5b4 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

Chae \uad50\uc218\ub294 \uc774\ub7f0 NBS \uc2dc\uc2a4\ud15c\uc774 \ud658\uc790\uc5d0\uac8c \ucc28\uc120\ucc45\uc774\ub77c\uace0 \uc0dd\uac01\ud569\ub2c8\ub2e4. \uadf8\ub140\uac00 \uc6d0\ud558\ub294 \uac83\uc740 \ub354 \ub9ce\uc740 \ubd84\uc790 \ud14c\uc2a4\ud2b8\uac00 \uacf5\uacf5 \ubc0f \ubbfc\uac04 NBS \ud328\ub110\uc5d0 \ud1b5\ud569\ub418\ub294 \uac83\uc744 \ubcf4\uace0, \ud55c\uad6d\uc5d0\uc11c NBS\uc758 \ucc28\uc138\ub300 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\uc758 \uc7a0\uc7ac\ub825\uc744 \ud3c9\uac00\ud558\uae30 \uc704\ud55c \ub300\uaddc\ubaa8 \uc5f0\uad6c \ud504\ub85c\uc81d\ud2b8\ub97c \ubcf4\ub294 \uac83\uc785\ub2c8\ub2e4. \uc774\ub7ec\ud55c \ud504\ub85c\uc81d\ud2b8\ub294 \uc774\ubbf8 \uc804 \uc138\uacc4\uc758 \ub9ce\uc740 \ub2e4\ub978 \uc120\uc9c4\uad6d\uc5d0\uc11c \uc77c\uc5b4\ub098\uace0 \uc788\uc9c0\ub9cc \uc544\uc9c1 \uadf8\ub140\uc758 \ub098\ub77c\uc5d0\uc11c\ub294 \uc77c\uc5b4\ub098\uc9c0 \uc54a\uc2b5\ub2c8\ub2e4.<\/p>\n

“\uc6b0\ub9ac\ub294 \uac8c\ub188 \uc2e0\uc0dd\uc544 \uc120\ubcc4 \uc2ec\uc0ac\ub97c \uac1c\uc120\ud558\uae30 \uc704\ud574 \ub178\ub825\ud574\uc57c\ud569\ub2c8\ub2e4”\ub77c\uace0 \uadf8\ub140\ub294 \ub9d0\ud569\ub2c8\ub2e4. “\ucd9c\uc0b0\uc728\uc774 \uac10\uc18c\ud558\uace0 \uc788\uc74c\uc5d0\ub3c4 \ubd88\uad6c\ud558\uace0, \uc721\uc544\uc5d0 \ub300\ud55c \ubd80\ubaa8\uc758 \uad00\uc2ec\uc740 \uc810\uc810 \uc99d\uac00\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. G-scanning \uc11c\ube44\uc2a4\ub294 \uc784\uc0c1\uc801\uc73c\ub85c \ud560 \uc218 \uc788\ub294 \uac83\uc774 \ub9ce\uc9c0 \uc54a\uc740 \uc0c1\ud0dc\ub97c \ub300\ubd80\ubd84 \uac10\uc9c0\ud569\ub2c8\ub2e4. \uac00\uc7a5 \ud070 \ud61c\ud0dd\uc744 \ubc1b\uc744 \uc218 \uc788\ub294 \uc544\uc774\ub4e4\uc744 \ub3c4\uc6b8 \uc218 \uc788\ub294 \ub354 \ub098\uc740 \ubc29\ubc95\uc744 \ucc3e\uc544\uc57c \ud569\ub2c8\ub2e4.”<\/p>\n

\ub2e4\ub978 \ub9ce\uc740 \uad6d\uac00\uc5d0\uc11c \uac8c\ub188 NBS\uac00 \uacc4\uc18d \ud761\uc218\ub418\ub294 \uac83\uc744 \uac10\uc548\ud560 \ub54c \ud55c\uad6d\uc5d0\uc11c\uc758 \ucc44\ud0dd\uc740 \ubd88\uac00\ud53c\ud560 \uc218 \uc788\uc2b5\ub2c8\ub2e4. \uadf8\ub807\ub354\ub77c\ub3c4 \ud76c\uadc0\uc9c8\ud658 \ud658\uc790\uc640 \ubcf4\ud638\uc790\ub4e4\uc774 \uadf8\ud1a0\ub85d \uc808\uc2e4\ud788 \ud544\uc694\ub85c \ud558\ub294 \ubcc0\ud654\ub97c \uc804\ub2ec\ud558\uae30 \uc704\ud574\uc11c\ub294 \uc0dd\ud0dc\uacc4 \uc804\ubc18\uc758 \uc774\ud574\uad00\uacc4\uc790\ub4e4\uacfc Chae \uad50\uc218 \uac19\uc740 \ud76c\uadc0\uc9c8\ud658 \uc120\uad6c\uc790\ub4e4\uc758 \ub9ac\ub354\uc2ed\uc758 \ub178\ub825\uc774 \ud544\uc694\ud560 \uac83\uc785\ub2c8\ub2e4.<\/p>\n

\uc774 \uae30\uc0ac\ub294 Roche Diagnostics Asia Pacific\uc758 \uc758\ub8cc \uc5c5\ubb34 \ucd1d\uad04 \ucc45\uc784\uc790\uc778 Will Greene\uc774 Roche Diagnostics Korea \ubc0f Roche Pharmaceuticals Korea \ud300\uc758 \uc9c0\uc6d0\uc744 \ubc1b\uc544 \uc791\uc131\ud588\uc2b5\ub2c8\ub2e4. \uc800\uc790\ub294 \uc774 \uae00\uc758 \ubc30\uacbd \uc815\ubcf4\ub97c \uc81c\uacf5\ud55c Seoul St Mary\u2019s Hospital, College of Medicine, Catholic University of Korea \uc9c4\ub2e8\uac80\uc0ac\uc758\ud559\uacfc Myungshin Kim \uad50\uc218, MedySapiens Sanggoo Kang \ub300\ud45c, 3billion \ub300\ud45c Changwon Keum \ub4f1 \ud76c\uadc0\uc9c8\ud658 \uc9c4\ub2e8 \uc804\ubb38\uac00\ub4e4\uc758 \uc758\uacac \uc81c\uacf5\uc5d0 \uac10\uc0ac\ub97c \ud45c\ud569\ub2c8\ub2e4.\u00a0<\/em><\/p>\n

\ucc38\uace0 \ubb38\ud5cc<\/em>:<\/p>\n

[1]<\/a> http:\/\/www.snuh.org\/global\/en\/about\/newsView.do?bbs_no=6483<\/p>\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":"

\ud55c\uad6d \ucd5c\uace0\uc758 \ud76c\uadc0 \uc720\uc804 \uc9c8\ud658 \uc804\ubb38\uac00\ub85c \ub110\ub9ac \uc778\uc815\ubc1b\uace0 \uc788\ub294 Jong-Hee Chae \uad50\uc218\ub294 \uad6d\ub0b4 \uc720\uc218\uc758 \ud559\uc220 \uc758\ub8cc\uae30\uad00 \uc911 \ud558\ub098\uc778 Rare Disease Centre at Seoul National University Hospital (SNUH) \ub514\ub809\ud130 \uacb8 \uc784\uc0c1\uc720\uc804\uccb4\uc758\ud559\uacfc \uad50\uc218\ub85c \uc7ac\uc9c1 \uc911\uc785\ub2c8\ub2e4. Chae \uad50\uc218\ub294 \uc5ec\ub7ec \ucc45\ubb34 \uac00\uc6b4\ub370 \ud55c\uad6d\uc758 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8 \uac1c\uc120\uc744 \uc704\ud55c \uc5ec\ub7ec \uc911\uc694\ud55c \uc0ac\uc5c5\uc5d0\uc11c \ud575\uc2ec\uc801 \uc5ed\ud560\uc744 \ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ucd5c\uadfc Lab Insights\uc640\uc758 \ud1a0\ub860\uc5d0\uc11c […]<\/p>\n","protected":false},"author":1,"featured_media":85935,"parent":0,"menu_order":0,"template":"","meta":{"_acf_changed":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"tags":[14384,12457,14425,14383],"pillarandcategory":[294,282,293,309,326],"reporter":[14725],"class_list":["post-146514","acf_article","type-acf_article","status-publish","has-post-thumbnail","hentry","tag-14384","tag-12457","tag-14425","tag-14383","pillarandcategory-rare-diseases","pillarandcategory-disease-area","pillarandcategory-newborn-screening","pillarandcategory-operations","pillarandcategory-sequencing","reporter-chae-jong-hee"],"acf":[],"_links":{"self":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article\/146514","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article"}],"about":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/types\/acf_article"}],"author":[{"embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/users\/1"}],"version-history":[{"count":2,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article\/146514\/revisions"}],"predecessor-version":[{"id":148910,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/acf_article\/146514\/revisions\/148910"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/media\/85935"}],"wp:attachment":[{"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/media?parent=146514"}],"wp:term":[{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/tags?post=146514"},{"taxonomy":"pillarandcategory","embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/pillarandcategory?post=146514"},{"taxonomy":"reporter","embeddable":true,"href":"https:\/\/labinsights.com\/ko\/wp-json\/wp\/v2\/reporter?post=146514"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}