{"id":147151,"date":"2024-05-24T02:05:27","date_gmt":"2024-05-24T02:05:27","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/nang-cao-kha-nang-chan-doan-cac-benh-hiem-gap-o-han-quoc-diem-noi-bat-o-giao-su-jong-hee-chae\/"},"modified":"2026-02-23T10:45:31","modified_gmt":"2026-02-23T10:45:31","slug":"improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/vi\/disease-area\/rare-diseases\/improving-rare-disease-diagnostics-in-korea-spotlight-on-prof-jong-hee-chae\/","title":{"rendered":"N\u00e2ng cao kha\u0309 n\u0103ng ch\u1ea9n \u0111o\u00e1n ca\u0301c b\u1ec7nh hi\u1ebfm g\u1eb7p \u1edf H\u00e0n Qu\u1ed1c: \u0111i\u1ec3m n\u1ed5i b\u1eadt \u01a1\u0309 Gi\u00e1o s\u01b0 Jong-Hee Chae"},"content":{"rendered":"<p class=\"text-align-justify\">\u0110\u01b0\u1ee3c c\u00f4ng nh\u1eadn r\u1ed9ng r\u00e3i l\u00e0 m\u1ed9t trong nh\u1eefng chuy\u00ean gia h\u00e0ng \u0111\u1ea7u v\u1ec1 b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p c\u1ee7a H\u00e0n Qu\u1ed1c, Gi\u00e1o s\u01b0 Jong-Hee Chae l\u00e0 Gi\u00e1o s\u01b0 t\u1ea1i Khoa Y h\u1ecdc l\u00e2m s\u00e0ng v\u00ea\u0300 Gen v\u00e0 Gi\u00e1m \u0111\u1ed1c <a href=\"https:\/\/raredisease.snuh.org\/en\/\" target=\"_blank\" rel=\"noopener\">Trung t\u00e2m B\u1ec7nh hi\u1ebfm t\u1ea1i B\u1ec7nh vi\u1ec7n tr\u01b0\u01a1\u0300ng \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia Seoul (SNUH)<\/a>, m\u1ed9t trong nh\u1eefng \u0111\u01a1n vi\u0323 y h\u1ecdc h\u00e0ng \u0111\u1ea7u c\u1ee7a \u0111\u1ea5t n\u01b0\u1edbc.<\/p>\n<p class=\"text-align-justify\">Trong nhi\u1ec1u tr\u00e1ch nhi\u1ec7m \u0111ang mang, Gi\u00e1o s\u01b0 Chae \u0111\u00f3ng vai tr\u00f2 quan tr\u1ecdng trong m\u1ed9t s\u1ed1 d\u1ef1 \u00e1n l\u01a1\u0301n nh\u1eb1m c\u1ea3i thi\u1ec7n ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm g\u1eb7p \u1edf H\u00e0n Qu\u1ed1c. Trong m\u1ed9t cu\u1ed9c trao \u0111\u00f4\u0309i g\u1ea7n \u0111\u00e2y v\u1edbi Lab Insights, b\u00e0 \u0111\u00e3 chia s\u1ebb c\u00e1c th\u00f4ng tin c\u1eadp nh\u1eadt v\u1ec1 c\u00f4ng vi\u1ec7c c\u1ee7a m\u00ecnh v\u00e0 suy ngh\u0129 v\u1ec1 nh\u1eefng \u0111i\u1ec1u c\u1ea7n thi\u1ebft \u0111\u1ec3 r\u00fat ng\u1eafn h\u00e0nh tr\u00ecnh ch\u1ea9n \u0111o\u00e1n cho b\u1ec7nh nh\u00e2n.<\/p>\n<h2 class=\"text-align-justify\" style=\"font-family: Inter !important; font-weight: 500 !important; font-size: 28px !important; line-height: 36px !important; letter-spacing: 0px !important;\">Ch\u1ea9n \u0111o\u00e1n l\u00e2m s\u00e0ng t\u1ea1i Trung t\u00e2m B\u1ec7nh hi\u00ea\u0301m SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul)<\/h2>\n<p class=\"text-align-justify\">\u0110\u01b0\u1ee3c th\u00e0nh l\u1eadp v\u00e0o n\u0103m 2010, Trung t\u00e2m B\u1ec7nh hi\u1ebfm SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) t\u1ef1 \u0111\u1ecbnh v\u1ecb m\u00ecnh l\u00e0 h\u1ec7 th\u1ed1ng y t\u1ebf t\u00edch h\u1ee3p \u0111a ng\u00e0nh \u0111\u1ea7u ti\u00ean d\u00e0nh cho b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh hi\u1ebfm t\u1ea1i H\u00e0n Qu\u1ed1c. V\u1edbi t\u01b0 c\u00e1ch l\u00e0 Gi\u00e1m \u0111\u1ed1c trung t\u00e2m, Gi\u00e1o s\u01b0 Chae gi\u00e1m s\u00e1t h\u01a1n 70 ph\u00f2ng kh\u00e1m ri\u00eang cho b\u1ec7nh nhi v\u00e0 ng\u01b0\u1eddi l\u1edbn (b\u00e0 c\u0169ng h\u00e0nh ngh\u1ec1 chuy\u00ean khoa th\u1ea7n kinh nhi khoa v\u00e0 kh\u00e1m b\u1ec7nh cho b\u1ec7nh nh\u00e2n t\u1ea1i B\u1ec7nh vi\u1ec7n Nhi tr\u01b0\u0323c thu\u00f4\u0323c SNUH [Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul]).<\/p>\n<p class=\"text-align-justify\">\u0110\u1ed1i v\u1edbi nh\u1eefng b\u1ec7nh nh\u00e2n ch\u01b0a \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n, Trung t\u00e2m B\u1ec7nh hi\u1ebfm SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) cung c\u1ea5p m\u1ed9t s\u1ed1 ho\u1ea1t \u0111\u1ed9ng x\u00e9t nghi\u1ec7m di truy\u1ec1n ti\u00ean ti\u1ebfn nh\u1ea5t t\u1ea1i H\u00e0n Qu\u1ed1c. Trong khi h\u1ea7u h\u1ebft c\u00e1c b\u1ec7nh vi\u1ec7n nhi tr\u00ean c\u1ea3 n\u01b0\u1edbc \u0111\u1ec1u c\u00f3 kh\u1ea3 n\u0103ng th\u1ef1c hi\u1ec7n x\u00e9t nghi\u1ec7m di truy\u1ec1n th\u01b0\u1eddng quy, ch\u1eb3ng h\u1ea1n nh\u01b0 s\u1eed d\u1ee5ng c\u00e1c b\u1ea3ng NGS (next-generation sequencing, gia\u0309i tri\u0300nh t\u01b0\u0323 th\u00ea\u0301 h\u00ea\u0323 m\u01a1\u0301i) v\u00e0 vi xe\u0301t nghi\u00ea\u0323m c\u00f3 b\u00e1n tr\u00ean th\u1ecb tr\u01b0\u1eddng, SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) c\u00f3 xu h\u01b0\u1edbng x\u1eed l\u00fd nh\u1eefng tr\u01b0\u1eddng h\u1ee3p ph\u1ee9c t\u1ea1p v\u00e0 kh\u00f3 kh\u0103n nh\u1ea5t.<\/p>\n<p class=\"text-align-justify\">M\u1ed9t l\u0129nh v\u1ef1c tr\u1ecdng t\u00e2m c\u1ee7a Trung t\u00e2m B\u1ec7nh hi\u1ebfm SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) l\u00e0 gi\u1ea3i tr\u00ecnh t\u1ef1 b\u1ed9 gen nhanh ch\u00f3ng cho nh\u1eefng b\u1ec7nh nh\u00e2n c\u00f3 bi\u00ea\u0309u hi\u00ea\u0323n b\u00ea\u0323nh. So v\u1edbi c\u00e1c x\u00e9t nghi\u1ec7m di truy\u1ec1n th\u00f4ng th\u01b0\u1eddng, th\u01b0\u1eddng m\u1ea5t nhi\u1ec1u th\u00e1ng \u0111\u1ec3 ho\u00e0n th\u00e0nh, trung t\u00e2m c\u1ee7a Gi\u00e1o s\u01b0 Chae th\u01b0\u1eddng c\u00f3 th\u1ec3 cung c\u1ea5p k\u1ebft qu\u1ea3 trong v\u00e0i tu\u1ea7n ho\u1eb7c s\u01a1\u0301m h\u01a1n, \u0111\u1eb7c bi\u1ec7t l\u00e0 \u0111\u1ed1i v\u1edbi c\u00e1c tr\u01b0\u1eddng h\u1ee3p c\u1ea5p c\u01b0\u0301u t\u1ea1i ca\u0301c \u0111\u01a1n vi\u0323 h\u00f4\u0300i s\u01b0\u0301c ti\u0301ch c\u01b0\u0323c d\u00e0nh cho tr\u1ebb s\u01a1 sinh ho\u1eb7c b\u00ea\u0323nh nhi. Nh\u1eefng d\u1ecbch v\u1ee5 nhanh ch\u00f3ng n\u00e0y kh\u00f4ng \u0111\u01b0\u1ee3c ch\u01b0\u01a1ng tr\u00ecnh b\u1ea3o hi\u1ec3m y t\u1ebf qu\u1ed1c gia c\u1ee7a H\u00e0n Qu\u1ed1c chi tr\u1ea3, nh\u01b0ng \u0111\u00f4i khi v\u1eabn c\u00f3 ngu\u1ed3n t\u00e0i tr\u1ee3 th\u00f4ng qua b\u1ec7nh vi\u1ec7n, c\u00e1c d\u1ef1 \u00e1n y t\u1ebf c\u00f4ng c\u1ed9ng ho\u1eb7c c\u00e1c t\u1ed5 ch\u1ee9c phi ch\u00ednh ph\u1ee7 \u0111\u1ecba ph\u01b0\u01a1ng.<\/p>\n<p class=\"text-align-justify\">M\u1ed9t ca\u0301ch ti\u00ea\u0301p c\u00e2\u0323n v\u01a1\u0301i di\u0323ch vu\u0323 x\u00e9t nghi\u1ec7m nhanh t\u1ea1i Trung t\u00e2m B\u1ec7nh hi\u1ebfm SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) l\u00e0 th\u00f4ng qua b\u1ea3ng NGS (next-generation sequencing, gia\u0309i tri\u0300nh t\u01b0\u0323 th\u00ea\u0301 h\u00ea\u0323 m\u01a1\u0301i) m\u00e0 Gi\u00e1o s\u01b0 Chae \u0111\u00e3 \u0111\u1ed3ng ph\u00e1t tri\u1ec3n v\u1edbi MedySapiens, m\u1ed9t c\u00f4ng ty t\u01b0 nh\u00e2n \u0111\u1ecba ph\u01b0\u01a1ng ph\u00e1t tri\u1ec3n c\u00e1c s\u1ea3n ph\u1ea9m v\u00e0 d\u1ecbch v\u1ee5 \u01b0\u0301ng du\u0323ng giao thoa gi\u01b0\u0303a ti\u00ea\u0301n b\u00f4\u0323 v\u00ea\u0300 AI (Artificial Intelligence, tri\u0301 tu\u00ea\u0323 nh\u00e2n ta\u0323o), tin sinh h\u1ecdc v\u00e0 h\u1ec7 gen. B\u1ea3ng d\u1eef li\u1ec7u bao g\u1ed3m kho\u1ea3ng 270 gen, ch\u1ee7 y\u1ebfu li\u00ean quan \u0111\u1ebfn c\u00e1c t\u00ecnh tr\u1ea1ng b\u1ec7nh m\u00e0 c\u00f3 th\u1ec3 \u0111i\u1ec1u tr\u1ecb hi\u1ec7u qu\u1ea3 cao t\u1ea1i H\u00e0n Qu\u1ed1c. Danh s\u00e1ch gen n\u00e0y \u0111\u01b0\u1ee3c c\u1eadp nh\u1eadt th\u01b0\u1eddng xuy\u00ean \u0111\u1ec3 theo k\u1ecbp nh\u1eefng ph\u00e1t tri\u1ec3n m\u1edbi nh\u1ea5t trong y h\u1ecdc b\u1ed9 gen v\u00e0 ho\u00e0n tr\u1ea3 chi ph\u00ed.<\/p>\n<p class=\"text-align-justify\">Theo Gi\u00e1o s\u01b0 Chae, so v\u1edbi c\u00e1c d\u1ecbch v\u1ee5 gi\u1ea3i tr\u00ecnh t\u1ef1 to\u00e0n di\u1ec7n h\u01a1n s\u0103\u0303n c\u00f3 t\u1ea1i H\u00e0n Qu\u1ed1c, ba\u0309ng NGS (next-generation sequencing, gia\u0309i tri\u0300nh t\u01b0\u0323 th\u00ea\u0301 h\u00ea\u0323 m\u01a1\u0301i) t\u1ea1i Trung t\u00e2m B\u1ec7nh hi\u1ebfm SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) c\u00f3 chi ph\u00ed th\u1ea5p h\u01a1n v\u00e0 th\u1eddi gian x\u1eed l\u00fd nhanh h\u01a1n. N\u00f3 c\u0169ng c\u00f3 th\u1ec3 \u0111\u01b0\u1ee3c s\u1eed d\u1ee5ng cho ch\u00e2\u0301t li\u00ea\u0323u m\u00e1u kh\u00f4 (DBS) gi\u00f4\u0301ng nh\u01b0 c\u00e1c x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh ti\u00eau chu\u1ea9n m\u00e0 h\u1ea7u nh\u01b0 t\u1ea5t c\u1ea3 tr\u1ebb s\u01a1 sinh \u0111\u1ec1u \u0111\u01b0\u1ee3c th\u1ef1c hi\u1ec7n \u1edf H\u00e0n Qu\u1ed1c, do \u0111\u00f3 kh\u00f4ng nh\u1ea5t thi\u1ebft ph\u1ea3i l\u1ea5y th\u00eam m\u00e1u ho\u1eb7c l\u1ea5y l\u01b0\u1ee3ng m\u1eabu l\u1edbn, \u0111\u00f4i khi kh\u00f4ng \u0111\u01b0\u1ee3c khuy\u1ebfn kh\u00edch \u0111\u1ed1i v\u1edbi tr\u1ebb s\u01a1 sinh ho\u1eb7c tr\u1ebb em trong t\u00ecnh tr\u1ea1ng nguy k\u1ecbch.<\/p>\n<p class=\"text-align-justify\">\u0110\u1ed1i v\u1edbi nh\u1eefng b\u1ec7nh nh\u00e2n nghi ng\u1edd m\u1eafc b\u1ec7nh kh\u00f4ng c\u00f3 trong danh s\u00e1ch ho\u1eb7c \u0111\u00e3 tr\u1ea3i qua nhi\u1ec1u x\u00e9t nghi\u1ec7m di truy\u1ec1n th\u01b0\u1eddng quy t\u1ea1i c\u00e1c trung t\u00e2m kh\u00e1c, m\u1ed9t l\u1ef1a ch\u1ecdn kh\u00e1c l\u00e0 th\u1ef1c hi\u1ec7n gi\u1ea3i nhanh d\u1ef1a tr\u00ean b\u1ed9 ba tr\u00ecnh t\u1ef1 to\u00e0n b\u1ed9 exome ho\u1eb7c b\u1ed9 gen (rWES\/rWGS). Gi\u00e1o s\u01b0 Chae cho bi\u1ebft ph\u01b0\u01a1ng ph\u00e1p n\u00e0y c\u00f3 nhi\u1ec1u kh\u1ea3 n\u0103ng mang l\u1ea1i k\u1ebft qu\u1ea3 h\u01a1n so v\u1edbi x\u00e9t nghi\u1ec7m b\u1ea3ng, nh\u01b0ng c\u0169ng \u0111\u00f2i h\u1ecfi ph\u1ea3i l\u1ea5y th\u00eam m\u00e1u t\u1eeb b\u1ec7nh nh\u00e2n v\u00e0 c\u1ea3 cha m\u1eb9, c\u0169ng nh\u01b0 c\u1ea7n c\u00f3 nhi\u1ec1u chuy\u00ean m\u00f4n v\u1ec1 l\u00e2m s\u00e0ng v\u00e0 tin h\u1ecdc h\u01a1n \u0111\u1ec3 gi\u1ea3i th\u00edch k\u1ebft qu\u1ea3.<\/p>\n<p class=\"text-align-justify\">rWES (rapid whole exome sequencing, gia\u0309i nhanh tri\u0300nh t\u01b0\u0323 toa\u0300n b\u00f4\u0323 exome) v\u00e0 rWGS (rapid whole genome sequencing, gia\u0309i nhanh tri\u0300nh t\u01b0\u0323 toa\u0300n b\u00f4\u0323 gen) c\u0169ng t\u1ed1n k\u00e9m h\u01a1n so v\u1edbi b\u1ea3ng th\u1eed nghi\u1ec7m. Nh\u01b0\u0303ng xe\u0301t nghi\u00ea\u0323m na\u0300y kh\u00f4ng \u0111\u01b0\u1ee3c b\u1ea3o hi\u1ec3m qu\u1ed1c gia chi tr\u1ea3, nh\u01b0ng \u0111\u00f4i khi c\u00f3 ngu\u1ed3n t\u00e0i tr\u1ee3 th\u00f4ng qua c\u00e1c ch\u01b0\u01a1ng tr\u00ecnh nh\u01b0 D\u1ef1 \u00e1n Ung th\u01b0 Tr\u1ebb em v\u00e0 B\u1ec7nh hi\u1ebfm Lee Kun-Hee, m\u1ed9t s\u00e1ng ki\u1ebfn nghi\u00ean c\u1ee9u v\u00e0 y t\u1ebf c\u00f4ng c\u1ed9ng k\u00e9o d\u00e0i 10 n\u0103m v\u01a1\u0301i ng\u00e2n quy\u0303 60 t\u1ef7 won (44 tri\u1ec7u \u0111\u00f4 la M\u1ef9) \u0111\u1ec3 h\u1ed7 tr\u1ee3 c\u00e1c d\u1ecbch v\u1ee5 ch\u1ea9n \u0111o\u00e1n v\u00e0 l\u00e2m s\u00e0ng cho c\u00e1c b\u1ec7nh hi\u1ebfm \u1edf tr\u1ebb em [1]. Ph\u1ea7n l\u1edbn ho\u1ea1t \u0111\u1ed9ng th\u1eed nghi\u1ec7m v\u00e0 ph\u1ed1i h\u1ee3p cho s\u00e1ng ki\u1ebfn n\u00e0y di\u1ec5n ra th\u00f4ng qua SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul), m\u1eb7c d\u00f9 ngu\u1ed3n qu\u1ef9 \u0111\u01b0\u1ee3c ph\u00e2n b\u1ed5 cho nhi\u1ec1u trung t\u00e2m t\u1ea1i H\u00e0n Qu\u1ed1c.<\/p>\n<h2 class=\"text-align-justify\" style=\"font-family: Inter !important; font-weight: 500 !important; font-size: 28px !important; line-height: 36px !important; letter-spacing: 0px !important;\">\u0110\u1ea9y m\u1ea1nh nghi\u00ean c\u1ee9u ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm<\/h2>\n<p class=\"text-align-justify\">Ngay c\u1ea3 v\u1edbi t\u1ea5t c\u1ea3 c\u00e1c x\u00e9t nghi\u1ec7m r\u00e2\u0301t hi\u00ea\u0323u qua\u0309 s\u1eb5n co\u0301 t\u1ea1i Trung t\u00e2m B\u1ec7nh hi\u1ebfm SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul), Gi\u00e1o s\u01b0 Chae than th\u1edf r\u1eb1ng h\u01a1n m\u1ed9t n\u1eeda s\u1ed1 b\u1ec7nh nh\u00e2n t\u1ea1i ph\u00f2ng kh\u00e1m c\u1ee7a b\u00e0 v\u1eabn ph\u1ea3i g\u0103\u0323p nhi\u00ea\u0300u kho\u0301 kh\u0103n \u0111\u1ec3 c\u00f3 \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n ch\u00ednh x\u00e1c v\u00e0 k\u1ecbp th\u1eddi. Do \u0111\u00f3, ba\u0300 c\u0169ng d\u00e0nh nhi\u1ec1u th\u1eddi gian \u0111\u00f3ng g\u00f3p cho c\u00e1c d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u b\u1ed9 gen nh\u1eb1m th\u00fac \u0111\u1ea9y s\u01b0\u0323 \u0111\u1ed5i m\u1edbi trong x\u00e9t nghi\u1ec7m, t\u0103ng n\u0103ng su\u1ea5t ch\u1ea9n \u0111o\u00e1n v\u00e0 c\u1ea3i thi\u1ec7n ch\u1ea5t l\u01b0\u1ee3ng, t\u1ed1c \u0111\u1ed9 v\u00e0 chi ph\u00ed t\u1ed5ng th\u1ec3.<\/p>\n<p class=\"text-align-justify\">H\u00e0n Qu\u1ed1c c\u00f3 m\u00f4\u0323t h\u1ec7 sinh th\u00e1i kh\u1edfi nghi\u1ec7p m\u1ea1nh m\u1ebd trong l\u0129nh v\u1ef1c x\u00e9t nghi\u1ec7m gen v\u00e0 m\u1ed9t s\u1ed1 d\u1ef1 \u00e1n n\u00e0y \u0111\u01b0\u1ee3c th\u00fac \u0111\u1ea9y th\u00f4ng qua quan h\u1ec7 \u0111\u1ed1i t\u00e1c v\u1edbi c\u00e1c c\u00f4ng ty t\u01b0 nh\u00e2n. V\u00ed d\u1ee5, Gi\u00e1o s\u01b0 Chae h\u1ee3p t\u00e1c v\u1edbi 3billion, m\u1ed9t nh\u00e0 cung c\u1ea5p d\u1ecbch v\u1ee5 c\u00f4ng ngh\u1ec7 v\u00e0 x\u00e9t nghi\u1ec7m b\u1ec7nh hi\u1ebfm, \u0111\u1ec3 ph\u00e1t tri\u1ec3n ph\u1ea7n m\u1ec1m bi\u1ebfn th\u1ec3 di truy\u1ec1n d\u1ef1a tr\u00ean d\u01b0\u0303 li\u00ea\u0323u AI (Artificial Intelligence, tri\u0301 tu\u00ea\u0323 nh\u00e2n ta\u0323o) v\u00ea\u0300 ki\u1ec3u gen-ki\u1ec3u h\u00ecnh. B\u00e0 cho bi\u1ebft h\u1ec7 th\u1ed1ng c\u1ee7a h\u1ecd \u0111a\u0303 \u0111a\u0323t \u0111\u01b0\u01a1\u0323c kh\u1ea3 n\u0103ng ph\u00e2n t\u00edch \u1ea5n t\u01b0\u1ee3ng \u0111\u1ed1i v\u1edbi c\u00e1c bi\u1ebfn th\u1ec3 hi\u1ebfm v\u00e0 v\u1eabn \u0111ang ti\u00ea\u0301p tu\u0323c \u0111\u01b0\u1ee3c c\u1ea3i ti\u00ea\u0301n.<\/p>\n<p class=\"text-align-justify\">Gi\u00e1o s\u01b0 Chae c\u0169ng h\u1ee3p t\u00e1c v\u1edbi nhi\u1ec1u d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u c\u1ee7a khu v\u1ef1c c\u00f4ng, \u0111\u00e1ng ch\u00fa \u00fd l\u00e0 D\u1ef1 \u00e1n D\u1eef li\u1ec7u sinh h\u1ecdc l\u1edbn c\u00e2\u0301p Qu\u1ed1c gia H\u00e0n Qu\u1ed1c (NPBBD), m\u1ed9t s\u00e1ng ki\u1ebfn li\u00ean b\u1ed9 nh\u1eb1m ph\u00e1t tri\u1ec3n c\u00e1c t\u1eadp d\u1eef li\u1ec7u k\u1ebft h\u1ee3p th\u00f4ng tin v\u1ec1 b\u1ed9 gen v\u00e0 l\u00e2m s\u00e0ng cho ng\u01b0\u1eddi d\u00e2n H\u00e0n Qu\u1ed1c. Ra m\u1eaft v\u00e0o n\u0103m 2020, d\u1ef1 \u00e1n ban \u0111\u1ea7u \u0111\u01b0\u1ee3c th\u1eed nghi\u1ec7m tr\u00ean m\u1ed9t nh\u00f3m b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh hi\u1ebfm g\u1eb7p. SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) l\u00e0 m\u1ed9t trong nh\u1eefng trung t\u00e2m h\u00e0ng \u0111\u1ea7u trong d\u1ef1 \u00e1n n\u00e0y, thu h\u00fat h\u00e0ng ngh\u00ecn b\u1ec7nh nh\u00e2n tham gia x\u00e9t nghi\u1ec7m WGS theo nh\u00f3m ba ng\u01b0\u1eddi, m\u1ed9t ph\u1ea7n c\u1ee7a nh\u00f3m nghi\u00ean c\u1ee9u ban \u0111\u1ea7u n\u00e0y.<\/p>\n<p class=\"text-align-justify\">Trong n\u1ed7 l\u1ef1c tuy\u1ec3n d\u1ee5ng cho giai \u0111o\u1ea1n th\u00ed \u0111i\u1ec3m c\u1ee7a d\u1ef1 \u00e1n ng\u00e2n h\u00e0ng sinh h\u1ecdc H\u00e0n Qu\u1ed1c, Gi\u00e1o s\u01b0 Chae cho bi\u1ebft h\u1ecd ch\u1ee7 y\u1ebfu t\u1eadp trung v\u00e0o c\u00e1c tr\u01b0\u1eddng h\u1ee3p ch\u01b0a \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n c\u0169ng nh\u01b0 nh\u1eefng b\u1ec7nh nh\u00e2n m\u1eafc c\u00e1c b\u1ec7nh hi\u1ebfm g\u1eb7p \u0111\u00e3 bi\u1ebft, trong \u0111\u00f3 k\u1ebft qu\u1ea3 c\u00f3 \u0111\u1ed9 bi\u1ebfn thi\u00ean l\u00e2m s\u00e0ng cao, ch\u1eb3ng h\u1ea1n nh\u01b0 b\u1ec7nh lo\u1ea1n d\u01b0\u1ee1ng c\u01a1 Duchenne ho\u1eb7c h\u1ed9i ch\u1ee9ng Rett, v\u00e0 trong \u0111\u00f3 d\u1eef li\u1ec7u WGS c\u00f3 ti\u1ec1m n\u0103ng l\u1edbn h\u01a1n trong vi\u1ec7c cung c\u1ea5p manh m\u1ed1i cho vi\u1ec7c ph\u00e1t tri\u1ec3n ph\u01b0\u01a1ng ph\u00e1p \u0111i\u1ec1u tr\u1ecb. Hi\u1ec7n t\u1ea1i h\u1ecd \u0111ang ph\u00e2n t\u00edch nh\u1eefng d\u1eef li\u1ec7u n\u00e0y cho m\u1ee5c \u0111\u00edch \u0111\u00f3.<\/p>\n<p class=\"text-align-justify\">T\u01b0\u01a1ng t\u1ef1 nh\u01b0 c\u00e1c d\u1ef1 \u00e1n ng\u00e2n h\u00e0ng sinh h\u1ecdc khu v\u1ef1c c\u00f4ng kh\u00e1c \u1edf c\u00e1c qu\u1ed1c gia kh\u00e1c, NPBBD (National Project of Bio Big Data, D\u1ef1 \u00e1n D\u1eef li\u1ec7u sinh h\u1ecdc l\u1edbn c\u00e2\u0301p Qu\u1ed1c gia) hi\u1ec7n \u0111ang trong qu\u00e1 tr\u00ecnh tri\u1ec3n khai giai \u0111o\u1ea1n th\u1ee9 hai nh\u1eb1m m\u1ee5c \u0111\u00edch co\u0301 \u0111\u01b0\u01a1\u0323c m\u1ed9t nh\u00f3m \u0111\u00f4\u0301i t\u01b0\u01a1\u0323ng nghi\u00ean c\u01b0\u0301u l\u01a1\u0301n h\u01a1n l\u00ean t\u1edbi 1 tri\u1ec7u b\u1ec7nh nh\u00e2n, bao g\u1ed3m nh\u1eefng ng\u01b0\u1eddi m\u1eafc c\u00e1c b\u1ec7nh ph\u1ed5 bi\u1ebfn h\u01a1n v\u00e0 nh\u00f3m \u0111\u1ed1i ch\u1ee9ng kh\u1ecfe m\u1ea1nh, c\u0169ng nh\u01b0 nhi\u1ec1u b\u1ec7nh nh\u00e2n m\u1eafc c\u00e1c b\u1ec7nh hi\u1ebfm g\u1eb7p h\u01a1n. Gi\u00e1o s\u01b0 Chae v\u1eabn l\u00e0 c\u1ed1 v\u1ea5n cho d\u1ef1 \u00e1n n\u00e0y, khuy\u1ebfn kh\u00edch c\u00e1c nh\u00e0 l\u00e3nh \u0111\u1ea1o ph\u00e1t tri\u1ec3n c\u00e1c k\u1ebf ho\u1ea1ch m\u1ea1nh m\u1ebd \u0111\u1ec3 chia s\u1ebb d\u1eef li\u1ec7u v\u1edbi c\u00e1c nh\u00e0 nghi\u00ean c\u1ee9u v\u00e0 c\u0169ng k\u1ebft h\u1ee3p d\u1eef li\u1ec7u gi\u1ea3i tr\u00ecnh t\u1ef1 \u0111\u1ecdc d\u00e0i trong v\u00e0i n\u0103m t\u1edbi.<\/p>\n<p class=\"text-align-justify\">Gi\u00e1o s\u01b0 Chae c\u0169ng tham gia s\u00e2u v\u00e0o Ch\u01b0\u01a1ng tr\u00ecnh B\u1ec7nh ch\u01b0a \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n c\u1ee7a H\u00e0n Qu\u1ed1c (K-UDP), m\u1ed9t th\u00e0nh vi\u00ean c\u1ee7a M\u1ea1ng l\u01b0\u1edbi B\u1ec7nh ch\u01b0a \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n qu\u1ed1c t\u1ebf (UDNI). Ngo\u00e0i vi\u1ec7c h\u1ed7 tr\u1ee3 tri\u1ec3n khai ch\u01b0\u01a1ng tr\u00ecnh t\u1ea1i H\u00e0n Qu\u1ed1c v\u00e0 c\u00f4ng b\u1ed1 k\u1ebft qu\u1ea3 n\u1ed7 l\u1ef1c c\u1ee7a ch\u01b0\u01a1ng tr\u00ecnh [2], b\u00e0 \u0111ang c\u00f3 k\u1ebf ho\u1ea1ch t\u1ed5 ch\u1ee9c cu\u1ed9c h\u1ecdp k\u1ef7 ni\u1ec7m 10 n\u0103m th\u00e0nh l\u1eadp UDNI v\u00e0o ng\u00e0y 5-7 th\u00e1ng 9 n\u0103m 2024 t\u1ea1i SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) \u1edf Seoul.<\/p>\n<h2 class=\"text-align-justify\" style=\"font-family: Inter !important; font-weight: 500 !important; font-size: 28px !important; line-height: 36px !important; letter-spacing: 0px !important;\">T\u1ea7m nh\u00ecn v\u1ec1 s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh t\u1ea1i H\u00e0n Qu\u1ed1c<\/h2>\n<p class=\"text-align-justify\">Trong s\u1ed1 nhi\u1ec1u ho\u1ea1t \u0111\u1ed9ng nghi\u00ean c\u1ee9u v\u00e0 ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm, SNUH (Seoul National University Hospital, B\u00ea\u0323nh vi\u00ea\u0323n tr\u01b0\u01a1\u0300ng \u0110a\u0323i ho\u0323c Qu\u00f4\u0301c gia Seoul) v\u1eadn h\u00e0nh m\u1ed9t trong nh\u1eefng ph\u00f2ng x\u00e9t nghi\u1ec7m s\u00e0ng l\u1ecdc tr\u1ebb s\u01a1 sinh (NBS) c\u1ee7a \u0111\u00e2\u0301t n\u01b0\u1edbc. Theo Gi\u00e1o s\u01b0 Chae, h\u1ec7 th\u1ed1ng NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) c\u00f4ng c\u1ed9ng \u0111\u01b0\u1ee3c ch\u00ednh ph\u1ee7 H\u00e0n Qu\u1ed1c t\u00e0i tr\u1ee3 cung c\u1ea5p x\u00e9t nghi\u1ec7m sinh h\u00f3a cho h\u01a1n 60 t\u00ecnh tr\u1ea1ng b\u1ec7nh.<\/p>\n<p class=\"text-align-justify\">Trong khi nhi\u1ec1u qu\u1ed1c gia tr\u00ean th\u1ebf gi\u1edbi \u0111ang trong qu\u00e1 tr\u00ecnh b\u1ed5 sung c\u00e1c x\u00e9t nghi\u1ec7m ph\u00e2n t\u1eed v\u00e0o b\u1ea3ng NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) c\u1ee7a h\u1ecd \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c t\u00ecnh tr\u1ea1ng nh\u01b0 SMA v\u00e0 SCID, Gi\u00e1o s\u01b0 Chae ch\u1ec9 ra r\u1eb1ng h\u1ec7 th\u1ed1ng NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) c\u00f4ng c\u1ed9ng c\u1ee7a H\u00e0n Qu\u1ed1c kh\u00f4ng bao g\u1ed3m b\u1ea5t k\u1ef3 s\u00e0ng l\u1ecdc b\u1ed9 gen n\u00e0o. Hi\u1ec7n t\u1ea1i, b\u1ea3o hi\u1ec3m qu\u1ed1c gia c\u1ee7a H\u00e0n Qu\u1ed1c ch\u1ec9 chi tr\u1ea3 cho x\u00e9t nghi\u1ec7m b\u1ed9 gen c\u1ea5p \u0111\u1ed9 ch\u1ea9n \u0111o\u00e1n \u0111\u1ed1i v\u1edbi b\u1ec7nh nh\u00e2n c\u00f3 tri\u1ec7u ch\u1ee9ng. H\u01a1n n\u1eefa, lu\u1eadt ph\u00e1p \u0111\u1ecba ph\u01b0\u01a1ng y\u00eau c\u1ea7u ph\u1ea3i c\u00f3 s\u1ef1 \u0111\u1ed3ng \u00fd \u0111\u1eb7c bi\u1ec7t \u0111\u1ed1i v\u1edbi x\u00e9t nghi\u1ec7m di truy\u1ec1n, t\u0103ng th\u00eam kh\u1ed1i l\u01b0\u1ee3ng c\u00f4ng vi\u1ec7c h\u00e0nh ch\u00ednh cho c\u00e1c b\u00e1c s\u0129 l\u00e2m s\u00e0ng v\u00e0 kh\u00f4ng khuy\u1ebfn kh\u00edch tri\u1ec3n khai x\u00e9t nghi\u1ec7m sinh ho\u0323c ph\u00e2n t\u1eed tr\u00ean th\u1ecb tr\u01b0\u1eddng t\u01b0 nh\u00e2n.<\/p>\n<p class=\"text-align-justify\">\u0110\u1ec3 b\u1ed5 sung cho nh\u00f3m NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) do ch\u00ednh ph\u1ee7 t\u00e0i tr\u1ee3, nhi\u1ec1u ph\u1ee5 huynh H\u00e0n Qu\u1ed1c mua c\u00e1c d\u1ecbch v\u1ee5 \u0111\u01b0\u1ee3c g\u1ecdi l\u00e0 &#8216;G-scanning&#8217; tr\u00ean th\u1ecb tr\u01b0\u1eddng \u0111\u1ecba ph\u01b0\u01a1ng. Gi\u00e1o s\u01b0 Chae cho bi\u1ebft v\u1ec1 c\u01a1 b\u1ea3n, \u0111\u00e2y l\u00e0 c\u00e1c vi xe\u0301t nghi\u00ea\u0323m nhi\u1ec5m s\u1eafc th\u1ec3 \u0111\u1ec3 ph\u00e1t hi\u1ec7n c\u00e1c \u0111o\u1ea1n m\u1ea5t \u0111o\u1ea1n v\u00e0 \u0111o\u1ea1n nh\u00e2n \u0111\u00f4i \u1edf tr\u1ebb em kh\u00f4ng c\u00f3 tri\u1ec7u ch\u1ee9ng. Ch\u00fang \u0111\u01b0\u1ee3c nhi\u1ec1u c\u00f4ng ty \u0111\u1ecba ph\u01b0\u01a1ng cung c\u1ea5p v\u00e0 qu\u1ea3ng c\u00e1o r\u1ea7m r\u1ed9 t\u1ea1i c\u00e1c trung t\u00e2m sinh n\u1edf. Nh\u1eefng b\u1ec7nh n\u00e0y kh\u00f4ng \u0111\u01b0\u1ee3c b\u1ea3o hi\u1ec3m qu\u1ed1c gia c\u1ee7a H\u00e0n Qu\u1ed1c chi tr\u1ea3, nh\u01b0ng l\u1ea1i \u0111\u01b0\u1ee3c bao g\u1ed3m trong m\u1ed9t s\u1ed1 g\u00f3i b\u1ea3o hi\u1ec3m t\u01b0 nh\u00e2n.<\/p>\n<p class=\"text-align-justify\">Gi\u00e1o s\u01b0 Chae c\u1ea3m th\u1ea5y h\u1ec7 th\u1ed1ng NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) n\u00e0y kh\u00f4ng t\u1ed1i \u01b0u cho b\u1ec7nh nh\u00e2n. B\u00e0 mu\u1ed1n th\u1ea5y nhi\u1ec1u x\u00e9t nghi\u1ec7m sinh ho\u0323c ph\u00e2n t\u1eed h\u01a1n \u0111\u01b0\u1ee3c \u0111\u01b0a v\u00e0o \u01b0\u0301ng du\u0323ng trong c\u1ea3 c\u00e1c h\u00ea\u0323 th\u00f4\u0301ng NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) c\u00f4ng l\u00e2\u0323p v\u00e0 t\u01b0 nh\u00e2n, c\u0169ng nh\u01b0 c\u00e1c d\u1ef1 \u00e1n nghi\u00ean c\u1ee9u quy m\u00f4 l\u1edbn \u0111\u1ec3 \u0111\u00e1nh gi\u00e1 ti\u1ec1m n\u0103ng c\u1ee7a gi\u1ea3i tr\u00ecnh t\u1ef1 th\u1ebf h\u1ec7 ti\u1ebfp theo cho NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) t\u1ea1i H\u00e0n Qu\u1ed1c. Nh\u1eefng d\u1ef1 \u00e1n nh\u01b0 v\u1eady \u0111\u00e3 v\u00e0 \u0111ang di\u1ec5n ra \u1edf nhi\u1ec1u qu\u1ed1c gia ti\u00ean ti\u1ebfn kh\u00e1c tr\u00ean th\u1ebf gi\u1edbi, nh\u01b0ng v\u1eabn ch\u01b0a c\u00f3 \u1edf \u0111\u1ea5t n\u01b0\u1edbc c\u00f4.<\/p>\n<p class=\"text-align-justify\">B\u00e0 cho bi\u1ebft: \u201cCh\u00fang ta ph\u1ea3i n\u1ed7 l\u1ef1c c\u1ea3i thi\u1ec7n vi\u1ec7c s\u00e0ng l\u1ecdc b\u1ed9 gen tr\u1ebb s\u01a1 sinh\u201d. \u201cM\u1eb7c d\u00f9 t\u1ef7 l\u1ec7 sinh \u0111ang gi\u1ea3m, nh\u01b0ng s\u1ef1 quan t\u00e2m c\u1ee7a c\u00e1c b\u1eadc cha m\u1eb9 trong vi\u1ec7c ch\u0103m s\u00f3c con c\u00e1i ng\u00e0y c\u00e0ng t\u0103ng. D\u1ecbch v\u1ee5 G-scanning ch\u1ee7 y\u1ebfu ph\u00e1t hi\u1ec7n nh\u1eefng t\u00ecnh tr\u1ea1ng m\u00e0 ch\u00fang ta kh\u00f4ng th\u1ec3 \u0111i\u00ea\u0300u tri\u0323 \u0111\u01b0\u1ee3c nhi\u1ec1u v\u1ec1 m\u1eb7t l\u00e2m s\u00e0ng. Ch\u00fang ta c\u1ea7n t\u00ecm ra c\u00e1ch t\u1ed1t h\u01a1n \u0111\u1ec3 gi\u00fap \u0111\u1ee1 tr\u1ebb em, gi\u00fap tr\u1ebb em \u0111\u01b0\u1ee3c h\u01b0\u1edfng l\u1ee3i nhi\u1ec1u nh\u1ea5t.\u201d<\/p>\n<p class=\"text-align-justify\">V\u1edbi vi\u1ec7c NBS (newborn screening, sa\u0300ng lo\u0323c s\u01a1 sinh) b\u1ed9 gen ti\u1ebfp t\u1ee5c \u0111\u01b0\u1ee3c \u00e1p d\u1ee5ng \u1edf nhi\u1ec1u qu\u1ed1c gia kh\u00e1c, vi\u1ec7c \u00e1p d\u1ee5ng ph\u01b0\u01a1ng ph\u00e1p n\u00e0y \u1edf H\u00e0n Qu\u1ed1c c\u00f3 v\u1ebb l\u00e0 \u0111i\u1ec1u kh\u00f4ng th\u1ec3 tr\u00e1nh kh\u1ecfi. M\u1eb7c d\u00f9 v\u1eady, c\u1ea7n c\u00f3 s\u1ef1 n\u1ed7 l\u1ef1c t\u1eeb c\u00e1c b\u00ean li\u00ean quan trong to\u00e0n b\u00f4\u0323 h\u1ec7 sinh th\u00e1i v\u00e0 s\u1ef1 l\u00e3nh \u0111\u1ea1o c\u1ee7a nh\u1eefng ng\u01b0\u1eddi ti\u00ean phong trong l\u0129nh v\u1ef1c b\u1ec7nh hi\u1ebfm nh\u01b0 Gi\u00e1o s\u01b0 Chae \u0111\u1ec3 mang l\u1ea1i s\u1ef1 thay \u0111\u1ed5i m\u00e0 b\u1ec7nh nh\u00e2n m\u1eafc b\u1ec7nh hi\u1ebfm v\u00e0 ng\u01b0\u1eddi ch\u0103m s\u00f3c h\u1ecd r\u1ea5t c\u1ea7n.<\/p>\n<p class=\"text-align-justify\"><em>B\u00e0i vi\u1ebft n\u00e0y \u0111\u01b0\u1ee3c vi\u1ebft b\u1edfi Will Greene, Tr\u01b0\u1edfng nh\u00f3m h\u1ee3p t\u00e1c ch\u0103m s\u00f3c s\u1ee9c kh\u1ecfe t\u1ea1i Roche Diagnostics khu v\u01b0\u0323c Ch\u00e2u \u00c1 &#8211; Th\u00e1i B\u00ecnh D\u01b0\u01a1ng, v\u1edbi s\u1ef1 h\u1ed7 tr\u1ee3 t\u1eeb nh\u00f3m t\u1ea1i Roche Diagnostics Ha\u0300n Qu\u00f4\u0301c v\u00e0 Roche Pharmaceuticals Ha\u0300n Qu\u00f4\u0301c. T\u00e1c gi\u1ea3 mu\u1ed1n c\u1ea3m \u01a1n s\u1ef1 \u0111\u00f3ng g\u00f3p c\u1ee7a c\u00e1c chuy\u00ean gia kh\u00e1c trong l\u0129nh v\u1ef1c ch\u1ea9n \u0111o\u00e1n b\u1ec7nh hi\u1ebfm \u0111\u00e3 cung c\u1ea5p th\u00f4ng tin c\u01a1 b\u1ea3n cho b\u00e0i vi\u1ebft n\u00e0y, bao g\u1ed3m Ba\u0301c s\u0129 Myungshin Kim, Gi\u00e1o s\u01b0 Khoa X\u00e9t nghi\u1ec7m Y h\u1ecdc t\u1ea1i B\u1ec7nh vi\u1ec7n Seoul St Mary, Tr\u01b0\u1eddng Y, \u0110\u1ea1i h\u1ecdc C\u00f4ng gi\u00e1o H\u00e0n Qu\u1ed1c; Sanggoo Kang, T\u1ed5ng gi\u00e1m \u0111\u1ed1c \u0111i\u1ec1u h\u00e0nh c\u1ee7a MedySapiens; v\u00e0 Changwon Keum, T\u1ed5ng gi\u00e1m \u0111\u1ed1c \u0111i\u1ec1u h\u00e0nh c\u1ee7a 3billion.<\/em><\/p>\n<p class=\"text-align-justify\"><em>T\u00e0i li\u1ec7u tham kh\u1ea3o<\/em><\/p>\n<p class=\"text-align-justify\"><a href=\"http:\/\/www.snuh.org\/global\/en\/about\/newsView.do?bbs_no=6483\" target=\"_blank\" rel=\"noopener\">[1]<\/a> http:\/\/www.snuh.org\/global\/en\/about\/newsView.do?bbs_no=6483<\/p>\n<p class=\"text-align-justify\"><a href=\"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02520-5\" target=\"_blank\" rel=\"noopener\">[2]<\/a>\u00a0Kim, S.Y. v\u00e0 c\u1ed9ng s\u1ef1 (2022) \u2018Ch\u01b0\u01a1ng tr\u00ecnh v\u00ea\u0300 b\u1ec7nh ch\u01b0a \u0111\u01b0\u1ee3c ch\u1ea9n \u0111o\u00e1n c\u1ee7a H\u00e0n Qu\u1ed1c giai \u0111o\u1ea1n I: M\u1edf r\u1ed9ng m\u1ea1ng l\u01b0\u1edbi to\u00e0n qu\u1ed1c v\u00e0 ph\u00e1t tri\u1ec3n c\u01a1 s\u1edf h\u1ea1 t\u1ea7ng d\u00e0i h\u1ea1n\u2019,T\u1ea1p ch\u00ed v\u00ea\u0300 b\u1ec7nh hi\u1ebfm \u01a1\u0309 tre\u0309 em, 17(1). doi:10.1186\/s13023-022-02520-5.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>\u0110\u01b0\u1ee3c c\u00f4ng nh\u1eadn r\u1ed9ng r\u00e3i l\u00e0 m\u1ed9t trong nh\u1eefng chuy\u00ean gia h\u00e0ng \u0111\u1ea7u v\u1ec1 b\u1ec7nh di truy\u1ec1n hi\u1ebfm g\u1eb7p c\u1ee7a H\u00e0n Qu\u1ed1c, Gi\u00e1o s\u01b0 Jong-Hee Chae l\u00e0 Gi\u00e1o s\u01b0 t\u1ea1i Khoa Y h\u1ecdc l\u00e2m s\u00e0ng v\u00ea\u0300 Gen v\u00e0 Gi\u00e1m \u0111\u1ed1c Trung t\u00e2m B\u1ec7nh hi\u1ebfm t\u1ea1i B\u1ec7nh vi\u1ec7n tr\u01b0\u01a1\u0300ng \u0110\u1ea1i h\u1ecdc Qu\u1ed1c gia Seoul (SNUH), m\u1ed9t [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":85938,"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 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