{"id":62,"date":"2012-08-21T21:42:45","date_gmt":"2012-08-21T19:42:45","guid":{"rendered":"http:\/\/semmelweis-egyetem.hu\/genomikai-medicina\/?page_id=62"},"modified":"2026-06-01T12:06:12","modified_gmt":"2026-06-01T10:06:12","slug":"gradualis-kepzes","status":"publish","type":"page","link":"https:\/\/semmelweis.hu\/genomikai-medicina\/oktatas\/gradualis-kepzes\/","title":{"rendered":"Gradu\u00e1lis k\u00e9pz\u00e9s"},"content":{"rendered":"
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Klinikai Genetika<\/h2>\n
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Klinikai genetika<\/span><\/h2>\n

Tant\u00e1rgy kredit\u00e9rt\u00e9ke: 2<\/p>\n

Szemeszter: 9. szemeszter, 10. szemeszter<\/p>\n

Tant\u00e1rgy t\u00edpusa: k\u00f6telez\u0151\u00a0<\/p>\n

K\u00f6telez\u0151en- vagy szabadon v\u00e1laszthat\u00f3 tant\u00e1rgy eset\u00e9n a k\u00e9pz\u00e9s nyelve: magyar\u00a0\u00a0<\/p>\n

Tant\u00e1rgy k\u00f3dja : AOKGRI966_1M <\/strong><\/p>\n

Tant\u00e1rgyfelel\u0151s neve: <\/strong>\u00a0Prof. Dr. Moln\u00e1r M\u00e1ria Judit,\u00a0 int\u00e9zetigazgat\u00f3 egyetemi tan\u00e1r<\/p>\n

Tanulm\u00e1nyi felel\u0151s:<\/strong>\u00a0Dr. Szegedi M\u00e1rta\u00a0\u00a0<\/p>\n

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A tant\u00e1rgy oktat\u00e1s\u00e1nak c\u00e9lkit\u0171z\u00e9se, helye az orvosk\u00e9pz\u00e9s kurrikulum\u00e1ban: <\/strong>A Klinikai Genetika tant\u00e1rgy c\u00e9lja, hogy az orvostanhallgat\u00f3k megismerkedjenek a hum\u00e1n genom vari\u00e1ci\u00f3k klinikai jelent\u0151s\u00e9g\u00e9vel, elsaj\u00e1t\u00edts\u00e1k a genetikai eredet\u0171 betegs\u00e9gek diagnosztik\u00e1j\u00e1nak \u00e9s kezel\u00e9s\u00e9nek alapjait. A kurzus k\u00f6z\u00e9ppontj\u00e1ban klinikai esetek \u00e9s mindennapi orvosi szitu\u00e1ci\u00f3k \u00e1llnak, k\u00fcl\u00f6n\u00f6s tekintettel az orvos d\u00f6nt\u00e9shoz\u00f3i szerep\u00e9re az \u00f6r\u00f6kletes betegs\u00e9gek felismer\u00e9s\u00e9ben, menedzsmentj\u00e9ben, valamint a megfelel\u0151 betegkommunik\u00e1ci\u00f3 kialak\u00edt\u00e1s\u00e1ban.\u00a0\u00a0<\/p>\n

\u00a0A k\u00e9thetes intenz\u00edv kurzus sor\u00e1n a hallgat\u00f3k betekint\u00e9st nyernek mind a gyermekgy\u00f3gy\u00e1szati, mind a feln\u0151tt klinikai genetikai ell\u00e1t\u00e1s saj\u00e1toss\u00e1gaiba. A genetika szerepe m\u00e1r a gyermekgy\u00f3gy\u00e1szatban is kiemelked\u0151, mivel a s\u00falyos genetikai betegs\u00e9gek nagy r\u00e9sze m\u00e1r gyermekkorban manifeszt\u00e1l\u00f3dik, \u00edgy ezek felismer\u00e9se \u00e9s kezel\u00e9se a gyermekell\u00e1t\u00e1s napi gyakorlat\u00e1nak szerves r\u00e9sz\u00e9t k\u00e9pezi. A feln\u0151ttell\u00e1t\u00e1sban a klinikai genetika egyre nagyobb jelent\u0151s\u00e9ggel b\u00edr a neurogenetikai k\u00f3rk\u00e9pek mellett az \u00f6r\u00f6kletes daganatszindr\u00f3m\u00e1k, valamint a kardiogenetikai, betegs\u00e9gek diagnosztik\u00e1j\u00e1ban \u00e9s szem\u00e9lyre szabott ter\u00e1pi\u00e1j\u00e1ban is. A tant\u00e1rgy nemcsak a genetikai tesztek diagnosztikai c\u00e9l\u00fa alkalmaz\u00e1s\u00e1t mutatja be, hanem hangs\u00falyt fektet a genetika megel\u0151z\u0151, predikt\u00edv \u00e9s beteg menedzsmentb\u00e9li szerep\u00e9re is. A genetikai ismeretek hat\u00e1sa a ter\u00e1pi\u00e1s d\u00f6nt\u00e9sek t\u00e1mogat\u00e1s\u00e1t\u00f3l eg\u00e9szen a n\u00e9peg\u00e9szs\u00e9g\u00fcgyi strat\u00e9gi\u00e1kig terjed \u2013 ide\u00e9rtve p\u00e9ld\u00e1ul a magas kock\u00e1zat\u00fa csoportokra ir\u00e1nyul\u00f3 c\u00e9lzott sz\u0171r\u00e9seket vagy az \u00fajsz\u00fcl\u00f6ttkori genetikai sz\u0171r\u00e9s lehet\u0151s\u00e9geit. A kurzus kiemelt figyelmet ford\u00edt az etikai \u00e9s kommunik\u00e1ci\u00f3s kih\u00edv\u00e1sokra is, k\u00fcl\u00f6n\u00f6sen azokra a speci\u00e1lis helyzetekre, amelyeket a genetika hoz mag\u00e1val \u2013 p\u00e9ld\u00e1ul preszimptomatikus eredm\u00e9nyek vagy ismeretlen jelent\u0151s\u00e9g\u0171 vari\u00e1nsok \u00e9rtelmez\u00e9se eset\u00e9n. A klinikai genetika az orvostudom\u00e1ny egyik legdinamikusabban fejl\u0151d\u0151 ter\u00fclete, amely m\u00e1ra transzdiszciplin\u00e1ris tudom\u00e1nny\u00e1 alakult. Nincs olyan ter\u00fclete az orvosl\u00e1snak, ahol ne lenne szerepe a genetikai t\u00e9nyez\u0151k felismer\u00e9s\u00e9nek \u00e9s \u00e9rtelmez\u00e9s\u00e9nek. A tant\u00e1rgy ez\u00e9rt a modern orvosk\u00e9pz\u00e9s alapvet\u0151 eleme, amely elengedhetetlen a j\u00f6v\u0151 orvosainak felk\u00e9sz\u00edt\u00e9s\u00e9ben a szem\u00e9lyre szabott \u00e9s adatvez\u00e9relt orvosl\u00e1s korszak\u00e1ra.\u00a0<\/p>\n

A tant\u00e1rgy feldolgoz\u00e1s\u00e1nak m\u00f3dja (el\u0151ad\u00e1s, csoportmunka, gyakorlat stb.):<\/strong> Szemin\u00e1riumok, gyakorlatok – mindezek alatt csoportmunka, interakt\u00edv oktat\u00e1si seg\u00e9dletek alkalmaz\u00e1sa. A t\u00e1rgy sikeres elv\u00e9gz\u00e9se milyen kompetenci\u00e1k megszerz\u00e9s\u00e9t eredm\u00e9nyezi: Az \u00f6r\u00f6kletes k\u00f3rk\u00e9pekhez kapcsol\u00f3d\u00f3 betegs\u00e9gmodellek val\u00f3s klinikai helyzeteken kereszt\u00fcl t\u00f6rt\u00e9n\u0151 bemutat\u00e1sa, valamint probl\u00e9ma-alap\u00fa tanul\u00e1si keretbe \u00e1gyaz\u00e1sa fejleszti a hallgat\u00f3k \u00f6n\u00e1ll\u00f3 \u00e9s csoportos probl\u00e9mamegold\u00f3 k\u00e9pess\u00e9geit. Az \u00f6r\u00f6kletes betegs\u00e9gek rendk\u00edv\u00fcli heterogenit\u00e1sa miatt nem c\u00e9lunk a teljes t\u00e9mak\u00f6r \u00e1tfog\u00f3 feldolgoz\u00e1sa a k\u00e9t h\u00e9t sor\u00e1n. \u00c9ppen ez az, ami k\u00fcl\u00f6nlegess\u00e9 teszi a kurzust: lehet\u0151s\u00e9get ad arra, hogy a hallgat\u00f3k megtapasztalj\u00e1k a probl\u00e9mamegold\u00e1s, az \u00faj kih\u00edv\u00e1sok \u00e9s a kor\u00e1bban ismeretlen helyzetek sikeres kezel\u00e9s\u00e9nek \u00e9lm\u00e9ny\u00e9t. A probl\u00e9ma-alap\u00fa tanul\u00e1s nemcsak fenntartja az \u00e9rdekl\u0151d\u00e9st \u00e9s \u00e9lvezetess\u00e9 teszi a tanul\u00e1si folyamatot, hanem el\u0151seg\u00edti a szakmai fejl\u0151d\u00e9st \u00e9s az eg\u00e9szs\u00e9g\u00fcgyi hivat\u00e1sokban n\u00e9lk\u00fcl\u00f6zhetetlen \u00e9lethosszig tart\u00f3 tanul\u00e1s szeml\u00e9let\u00e9nek kialakul\u00e1s\u00e1t. A tant\u00e1rgy sikeres teljes\u00edt\u00e9s\u00e9t k\u00f6vet\u0151en a hallgat\u00f3k rendelkezni fognak a leggyakoribb genetikai \u00e9s genomikai predikci\u00f3s, prevenci\u00f3s, diagnosztikai \u00e9s farmakogenomikai ismeretekkel, meg\u00e9rtik a genetikai tan\u00e1csad\u00e1s c\u00e9lj\u00e1t \u00e9s m\u00f3dszertan\u00e1t, valamint megismerkednek a diagnosztikai \u00e9s ter\u00e1pi\u00e1s d\u00f6nt\u00e9shozatal alapelveivel, szakmai ir\u00e1nyelveivel \u00e9s etikai dilemm\u00e1ival. A gyakorlatban elsaj\u00e1t\u00edtj\u00e1k, hogyan lehet (1) a beteg klinikai szempontb\u00f3l relev\u00e1ns csal\u00e1di k\u00f3rt\u00f6rt\u00e9net\u00e9t felt\u00e9rk\u00e9pezni, mikor kell genetikai betegs\u00e9gre gondolni; (2) a legink\u00e1bb indokolt genetikai vizsg\u00e1latot kiv\u00e1lasztani, azt \u00e9rtelmezni; \u00e9s (3) hogyan lehet a genomikai inform\u00e1ci\u00f3kat integr\u00e1lni a kezel\u00e9si d\u00f6nt\u00e9shozatalba. A hallgat\u00f3k sz\u00e1mos val\u00f3s \u00e9s szintetikus klinikai eset kapcs\u00e1n, valamint a j\u00e1r\u00f3- \u00e9s fekv\u0151betegell\u00e1t\u00e1sba val\u00f3 k\u00f6zvetlen bekapcsol\u00f3d\u00e1s r\u00e9v\u00e9n megtanulj\u00e1k, (1) hogyan gy\u0171jtsenek relev\u00e1ns inform\u00e1ci\u00f3kat k\u00fcl\u00f6nb\u00f6z\u0151 forr\u00e1sokb\u00f3l, (2) hogyan alkalmazzanak mesters\u00e9ges intelligencia-alap\u00fa d\u00f6nt\u00e9st\u00e1mogat\u00f3 rendszereket a fenot\u00edpusos mint\u00e1zatok felismer\u00e9s\u00e9ben, (3) hogyan kommunik\u00e1ljanak \u00f6r\u00f6kletes betegs\u00e9ggel \u00e9l\u0151 betegekkel \u00e9s csal\u00e1dtagjaikkal a tan\u00e1csad\u00f3i szerepben, (4) \u00e9s hogyan m\u0171k\u00f6djenek egy\u00fctt multidiszciplin\u00e1ris csapatban val\u00f3s diagnosztikai kih\u00edv\u00e1sok kezel\u00e9se sor\u00e1n.\u00a0\u00a0<\/p>\n

\u00a0 A t\u00e1rgy felv\u00e9tel\u00e9hez, illetve elsaj\u00e1t\u00edt\u00e1s\u00e1hoz sz\u00fcks\u00e9ges el\u0151tanulm\u00e1nyi felt\u00e9tel(ek).:<\/strong> Farmakol\u00f3gia II. , Genetika \u00e9s genomika, Patol\u00f3gia II.\u00a0\u00a0<\/p>\n

\u00a0 A t\u00e1rgy r\u00e9szletes tematik\u00e1ja\u00a0\u00a0<\/strong><\/p>\n

\u00a0 A tematika szerint a kurzus foglalkoz\u00e1sai az al\u00e1bbi sorrendben zajlanak az 1. turnusba tartoz\u00f3, gyermekgy\u00f3gy\u00e1szati kurzuson r\u00e9szt vev\u0151 magyar \u00e9s idegen nyelv\u0171 hallgat\u00f3i csoportok sz\u00e1m\u00e1ra. A 2. turnus eset\u00e9ben a Klinikai genetika feln\u0151tt \u00e9s gyermekgy\u00f3gy\u00e1szati moduljainak sorrendje felcser\u00e9l\u0151dik, a mell\u00e9kelt \u00fctemterv szerint.<\/p>\n

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  1. Klinikai genetika szerepe a betegell\u00e1t\u00e1sban |90’| 1.nap GRI <szemin\u00e1rium> — Prof. .Dr. Moln\u00e1r M\u00e1ria Judit, Dr. S\u00e1gi Judit<\/li>\n
  2. Ambulancia\/fekv\u0151oszt\u00e1ly |90’| 1.nap GRI <gyakorlat> — Prof.. Dr. Moln\u00e1r M\u00e1ria Judit, Dr. Jimoh Idris J\u00e1nos, Dr. Pal\u00e1sti \u00c1gnes, Dr. Benedek P\u00e9ter<\/li>\n
  3. Diagnosztikai strat\u00e9gi\u00e1k \u00e9s a genetikai leletek \u00e9rtelmez\u00e9se |90’| 2.nap GRI <szemin\u00e1rium> — Dr. Balicza P\u00e9ter, Dr. Moln\u00e1r Viktor<\/li>\n
  4. Ambulancia\/fekv\u0151oszt\u00e1ly |90’| 2.nap GRI <gyakorlat> — Dr. Grosz Zolt\u00e1n, Dr. Szegedi M\u00e1rta, Dr. Pal\u00e1sti \u00c1gnes, Dr. Benedek P\u00e9ter<\/li>\n
  5. Szem\u00e9lyre szabott medicina \u00e9s az \u00f6r\u00f6kletes betegs\u00e9gek menedzsmentje |90’| 4.nap GRI <szemin\u00e1rium> —Dr. Varga No\u00e9mi \u00c1gnes, Prof.. Dr. Moln\u00e1r M\u00e1ria Judit, Dr. Jimoh Idris J\u00e1nos<\/li>\n
  6. Genetikai tan\u00e1csad\u00e1s |90’| 4.nap GRI <gyakorlat> — Dr. Szegedi M\u00e1rta, Dr. Moln\u00e1r Viktor<\/li>\n
  7. Team competition |90’| 4.nap GRI <gyakorlat> — Dr. Moln\u00e1r Viktor, Dr. Csendes Barbara<\/li>\n
  8. Szindromatol\u00f3gia (szindr\u00f3m\u00e1k felismer\u00e9se malform\u00e1ci\u00f3k alapj\u00e1n) |45’| 5.nap Gyer2 <szemin\u00e1rium> — Dr.Pinti \u00c9va, Dr.Lengyel Anna<\/li>\n
  9. K\u00f3piasz\u00e1mv\u00e1ltoz\u00e1sok patogenit\u00e1s\u00e1nak \u00e9rt\u00e9kel\u00e9se |45’| 5.nap Gyer2 <szemin\u00e1rium> — Dr. Haltrich Ir\u00e9n, Dr. Kun Ilona, Dr. Pinti \u00c9va, Dr.. Lengyel Anna<\/li>\n
  10. Tumor prediszpoz\u00edci\u00f3s szindr\u00f3m\u00e1k gyermekkori jelent\u0151s\u00e9ge |45’| 5.nap Gyer2 <szemin\u00e1rium> — Dr. Pinti \u00c9va, Dr. Lengyel Anna<\/li>\n
  11. A szomatikus vari\u00e1nsok azonos\u00edt\u00e1s\u00e1nak jelent\u0151s\u00e9ge gyermekkori malignit\u00e1sokban |45’| 5.nap Gyer2 <szemin\u00e1rium> — Dr. Egyed B\u00e1lint, Dr. Erd\u00e9lyi D\u00e1niel<\/li>\n
  12. Genetika jelent\u0151s\u00e9ge a gyermekgy\u00f3gy\u00e1szatban, a f\u0151bb gyermekkori mechanizmusok elk\u00fcl\u00f6n\u00edt\u00e9se\u00a0 |45’| 6.nap Gyer1 <szemin\u00e1rium > — Dr. Tory K\u00e1lm\u00e1n, Dr. Fekete Anett<\/li>\n
  13. Mikor gondoljunk genetikai betegs\u00e9gre, gyermekkori blikkdiagn\u00f3zisok, mechanizmus \u00e9s \u00f6r\u00f6kl\u00e9smenet |45’| 6.nap Gyer1 <szemin\u00e1rium> — Dr. Tory K\u00e1lm\u00e1n, Dr. Antal-K\u00f3nya Violetta<\/li>\n
  14. Intoxik\u00e1ci\u00f3val j\u00e1r\u00f3 anyagcserebetegs\u00e9gek |45’| 6.nap Gyer1 <szemin\u00e1rium> — Dr. Zsidegh Petra, Dr. P\u00e1lmay Andrea<\/li>\n
  15. Szubsztr\u00e1thi\u00e1nnyal j\u00e1r\u00f3 anyagcserebetegs\u00e9gek \u00e9s lizoszom\u00e1lis t\u00e1rol\u00e1si betegs\u00e9gek |45’| 6.nap Gyer1 <szemin\u00e1rium> — Dr. Zsidegh Petra, Dr. P\u00e1lmay Andrea<\/li>\n
  16. Kromatogramok, QMPSF elemz\u00e9se |45’| 6.nap Gyer1 <gyakorlat> — Dr. J\u00e1vorszky Eszter, N\u00e9methi Zar\u00e1nd<\/li>\n
  17. Vari\u00e1nsok patogenit\u00e1s\u00e1nak \u00e9rt\u00e9kel\u00e9se a gyermekgy\u00f3gy\u00e1szati gyakorlatban |45’| 6.nap Gyer1 <gyakorlat> — Dr. Antal-K\u00f3nya Violetta, Dr. Tory K\u00e1lm\u00e1n<\/li>\n
  18. Oszt\u00e1lyos gyakorlat (\u00f6r\u00f6kletes m\u00e1j-, vese-, b\u00e9l-, neurol\u00f3giai betegs\u00e9gek, malform\u00e1ci\u00f3k megjelen\u00e9se) |90’| 7.nap Gyer1 — Dr. Kerti Andrea, Dr. Csoh\u00e1ny R\u00f3zsa, Dr. Fekete Anett, Dr. Antal-K\u00f3nya Violetta<\/li>\n
  19. Anyagcsere workshop |45’| 7.nap Gyer1 — Dr. Zsidegh Petra, Dr. P\u00e1lmay Andrea, Dr. Kerti Andrea<\/li>\n
  20. Gyermekkori etikai k\u00e9rd\u00e9sek \u00e9s kutat\u00e1si lehet\u0151s\u00e9gek |45’| 7.nap Gyer1 — Dr. Tory K\u00e1lm\u00e1n, Dr. Fekete Anett<\/li>\n
  21. Vizsga |50’| 10.nap<\/li>\n<\/ol>\n

    A foglalkoz\u00e1sokon val\u00f3 r\u00e9szv\u00e9tel k\u00f6vetelm\u00e9nyei \u00e9s a t\u00e1volmarad\u00e1s p\u00f3tl\u00e1s\u00e1nak lehet\u0151s\u00e9ge, az igazol\u00e1s m\u00f3dja a foglakoz\u00e1sokr\u00f3l val\u00f3 t\u00e1voll\u00e9t eset\u00e9n:<\/strong><\/p>\n

    A Tanulm\u00e1nyi \u00e9s vizsgaszab\u00e1lyzat alapj\u00e1n, a blokkoktat\u00e1sban az al\u00e1\u00edr\u00e1shoz megszerz\u00e9s\u00e9hez a szervezett gyakorlatok \u00e9s szemin\u00e1riumok 90%-\u00e1n sz\u00fcks\u00e9ges r\u00e9szt venni, amely legfeljebb egy 90 perces \u00e9s egy 45 perces modulr\u00f3l val\u00f3 t\u00e1voll\u00e9tet enged meg. P\u00f3tl\u00e1sra a tanulm\u00e1nyi felel\u0151ssel el\u0151re egyeztetett oktat\u00e1si h\u00e9ten van lehet\u0151s\u00e9g.<\/p>\n

    A megszerzett ismeretek ellen\u0151rz\u00e9s\u00e9nek m\u00f3dja a szorgalmi id\u0151szakban (besz\u00e1mol\u00f3k, z\u00e1rthelyi dolgozatok sz\u00e1ma t\u00e9mak\u00f6re \u00e9s id\u0151pontja, \u00e9rt\u00e9kel\u00e9sbe besz\u00e1m\u00edt\u00e1suk m\u00f3dja, p\u00f3tl\u00e1suk \u00e9s jav\u00edt\u00e1suk lehet\u0151s\u00e9ge):<\/strong> (besz\u00e1mol\u00f3k, z\u00e1rthelyi dolgozatok sz\u00e1ma t\u00e9mak\u00f6re \u00e9s id\u0151pontja, \u00e9rt\u00e9kel\u00e9sbe besz\u00e1m\u00edt\u00e1suk m\u00f3dja, p\u00f3tl\u00e1suk \u00e9s jav\u00edt\u00e1suk lehet\u0151s\u00e9ge)<\/strong><\/p>\n

    A r\u00f6vid oktat\u00e1si id\u0151szak miatt k\u00f6ztes form\u00e1lis sz\u00e1monk\u00e9r\u00e9s nincs. A gyakorlatok \u00e9s konzult\u00e1ci\u00f3k interakt\u00edv jellege azonban lehet\u0151s\u00e9get ad a hallgat\u00f3k tud\u00e1s\u00e1nak, valamint az inform\u00e1ci\u00f3k alkalmaz\u00e1s\u00e1nak ellen\u0151rz\u00e9s\u00e9re \u00e9s visszajelz\u00e9sre. Egyes \u00f3r\u00e1kon olyan k\u00e9rd\u00e9sek is felmer\u00fclhetnek, amelyek el\u0151zetesen feldolgozott h\u00e1tt\u00e9ranyag ismeret\u00e9t felt\u00e9telezik. A hallgat\u00f3 egy\u00e9ni munk\u00e1val megoldand\u00f3 feladatainak sz\u00e1ma \u00e9s t\u00edpusa, ezek lead\u00e1si hat\u00e1rideje: A flipped classroom modell alapj\u00e1n egyes \u00f3r\u00e1khoz (Klinikai genetika szerepe a betegell\u00e1t\u00e1sban, Diagnosztikai strat\u00e9gi\u00e1k \u00e9s a genetikai leletek \u00e9rtelmez\u00e9se, Szem\u00e9lyre szabott medicina \u00e9s az \u00f6r\u00f6kletes betegs\u00e9gek menedzsmentje) \u00f6n\u00e1ll\u00f3 felk\u00e9sz\u00fcl\u00e9s sz\u00fcks\u00e9ges, megadott felk\u00e9sz\u00fcl\u00e9si anyagok seg\u00edts\u00e9g\u00e9vel.<\/p>\n

    A f\u00e9l\u00e9v al\u00e1\u00edr\u00e1s\u00e1nak felt\u00e9telei:<\/strong><\/p>\n

    Legal\u00e1bb 90%-os r\u00e9szv\u00e9tel a foglalkoz\u00e1sokon, amely teljes\u00edt\u00e9s\u00e9t az egyes \u00f3r\u00e1k v\u00e9g\u00e9n \u00e9rt\u00e9kel\u00e9ssel egybe k\u00f6t\u00f6tt regisztr\u00e1ci\u00f3val lehet igazolni. Az \u00e9rt\u00e9kel\u00e9shez sz\u00fcks\u00e9ges online el\u00e9rhet\u0151s\u00e9g (link) az oktat\u00e1si hetet megel\u0151z\u0151 h\u00e9ten a Neptun rendszeren a csoport tagjai sz\u00e1m\u00e1ra megk\u00fcld\u00f6tt K\u00f6z\u00f6s dokumentumban tal\u00e1lhat\u00f3.<\/p>\n

    Sz\u00e1monk\u00e9r\u00e9s t\u00edpusa:<\/strong> kollokvium<\/p>\n

    Vizsgak\u00f6vetelm\u00e9nyek (t\u00e9telsor, tesztvizsga t\u00e9mak\u00f6rei, ill. a vizsgak\u00e9nt elismert projektfeladat v\u00e1laszthat\u00f3 t\u00e9mak\u00f6rei)<\/strong>:<\/p>\n

    A tant\u00e1rgy teljes\u00edt\u00e9s\u00e9nek felt\u00e9tele a kurzus al\u00e1\u00edr\u00e1s\u00e1nak megszerz\u00e9se (legfeljebb 10% hi\u00e1nyz\u00e1s, p\u00f3tl\u00e1sokkal egy\u00fctt), valamint a sikeres \u00edr\u00e1sbeli vizsga. A vizsga olyan probl\u00e9ma- \u00e9s gyakorlatorient\u00e1lt feladatokat tartalmaz, amelyek egyenletesen lefedik a tant\u00e1rgy tematik\u00e1j\u00e1t. A csak \u00edr\u00e1sbeli feladatokat tartalmaz\u00f3 tesztvizsga, \u00f6sszhangban a 2026\/2027. tan\u00e9vi tant\u00e1rgyi k\u00f6vetelm\u00e9nyrendszerekre vonatkoz\u00f3, a Szen\u00e1tus 26\/2025. (III.27.) sz. hat\u00e1rozat\u00e1nak 30. \u00a7-val (53720\/AOADH\/2025), a tesztk\u00e9rd\u00e9sek \u00e9s a hozz\u00e1 tartoz\u00f3 v\u00e1laszok el\u0151zetesen, minden \u00e9rintett sz\u00e1m\u00e1ra megismerhet\u0151v\u00e9 v\u00e1lnak.<\/p>\n

    A tesztvizsga k\u00e9rd\u00e9seinek \u00f6sszet\u00e9tele a k\u00f6vetkez\u0151k\u00e9ppen alakul:<\/p>\n

    (1)A k\u00e9rd\u00e9sek 50%-a a kurzus Moodle-oldal\u00e1n el\u00e9rhet\u0151 gyakorl\u00f3 k\u00e9rd\u00e9sekb\u0151l ker\u00fcl ki. Ezek tanul\u00f3kv\u00edz form\u00e1j\u00e1ban haszn\u00e1lhat\u00f3k, azonnali visszajelz\u00e9ssel a helyes v\u00e1laszr\u00f3l. A k\u00e9rd\u00e9ssor legal\u00e1bb 100 elemet tartalmaz, \u00e9s \u00e1tfog\u00f3 k\u00e9pet ad a klinikai genetika t\u00e1rgyter\u00fclet\u00e9r\u0151l. A v\u00e1laszokat AI assziszt\u00e1lt magyar\u00e1zat is kieg\u00e9sz\u00edtheti, hogy a hallgat\u00f3k ne csup\u00e1n mechanikusan tanulj\u00e1k meg a helyes megold\u00e1sokat.<\/p>\n

    (2)A k\u00e9rd\u00e9sek m\u00e1sik 50%-a a kurzus sor\u00e1n, az adott hallgat\u00f3i csoportra szabott f\u00f3kuszbetegs\u00e9gekre vonatkozik, amelyek modellk\u00e9nt szolg\u00e1lnak a tanul\u00e1shoz. Ezeket a hallgat\u00f3knak \u00f6n\u00e1ll\u00f3an kell feldolgozniuk a megadott forr\u00e1sanyagok alapj\u00e1n. A vizsg\u00e1n szerepl\u0151 k\u00e9rd\u00e9sek \u00e9s v\u00e1laszlehet\u0151s\u00e9gek is seg\u00edtik a felk\u00e9sz\u00fcl\u00e9st \u00e9s az ismeretek elm\u00e9ly\u00edt\u00e9s\u00e9t. Ezek a k\u00e9rd\u00e9sek szemben a gyakorl\u00f3 k\u00e9rd\u00e9sekkel, nem a kurzus kezdetekor egyszerre, hanem fokozatosan, a kurzus el\u0151rehaladt\u00e1val jelennek meg \u2013 jellemz\u0151en akkor, amikor a hallgat\u00f3k a p\u00e1cienssel vagy a kapcsol\u00f3d\u00f3 probl\u00e9m\u00e1val tal\u00e1lkoznak. Ez \u00f6szt\u00f6nzi a folyamatos tanul\u00e1st, \u00e9s seg\u00edti a klinikai \u00f6sszef\u00fcgg\u00e9sek akt\u00edv felismer\u00e9s\u00e9t.<\/p>\n

    A sz\u00e1monk\u00e9r\u00e9s egy\u00e9rtelm\u0171, konkr\u00e9t minimumk\u00f6vetelm\u00e9nye. (Az el\u00e9gs\u00e9ges \u00e9rdemjegy el\u00e9r\u00e9s\u00e9hez sz\u00fcks\u00e9ges k\u00f6telez\u0151en elv\u00e1rt fogalmak, param\u00e9terek, \u00e1br\u00e1k, sz\u00e1m\u00edt\u00e1sok list\u00e1ja, gyakorlati k\u00e9szs\u00e9gek, ill. a vizsgak\u00e9nt elismert projektfeladat t\u00e9mak\u00f6rei teljes\u00edt\u00e9s\u00e9nek \u00e9s \u00e9rt\u00e9kel\u00e9seinek krit\u00e9riuma.) A tansz\u00e9k honlapj\u00e1n k\u00f6zz\u00e9tett, a t\u00e1rgy minimumk\u00f6vetelm\u00e9nyeire mutat\u00f3 hivatkoz\u00e1s <\/strong><\/p>\n

    A Klinikai Genetika tant\u00e1rgy le\u00edr\u00e1sa \u00e9s sz\u00e1monk\u00e9r\u00e9s minimumk\u00f6vetelm\u00e9nyei: https:\/\/semmelweis.hu\/genomikai-medicina\/oktatas\/gradualis-kepzes\/<\/a><\/p>\n

    Az \u00e9rdemjegy kialak\u00edt\u00e1s\u00e1nak m\u00f3dja \u00e9s t\u00edpusa: (Az elm\u00e9leti \u00e9s gyakorlati vizsga besz\u00e1m\u00edt\u00e1s\u00e1nak m\u00f3dja, Az \u00e9vk\u00f6zi sz\u00e1monk\u00e9r\u00e9sek eredm\u00e9nyeinek besz\u00e1m\u00edt\u00e1si m\u00f3dja, A jegymegaj\u00e1nl\u00e1s lehet\u0151s\u00e9gei \u00e9s felt\u00e9telei)<\/strong><\/p>\n

    30 tesztk\u00e9rd\u00e9s \u00f6sszesen 100 pontot, k\u00e9rd\u00e9senk\u00e9nt 2 pontot \u00e9r. Teljes\u00edt\u00e9s 90% – a: jeles, 80-89%: j\u00f3, 70-79%: k\u00f6zepes, 60-69%: el\u00e9gs\u00e9ges, 60% alatt: el\u00e9gtelen.<\/p>\n

    \u00cdr\u00e1sbeli elm\u00e9leti vizsg\u00e1t tartunk<\/p>\n

    Az \u00edr\u00e1sbeli tesztvizsga sor\u00e1n a hallgat\u00f3knak nemcsak az elm\u00e9leti ismereteikr\u0151l, hanem azok gyakorlati alkalmaz\u00e1s\u00e1r\u00f3l is sz\u00e1mot kell adniuk. Nincsenek \u00e9vk\u00f6zi sz\u00e1monk\u00e9r\u00e9sek, amelyek alapj\u00e1n erre lehet\u0151s\u00e9g ny\u00edlna.<\/p>\n

    A tant\u00e1rgy oktat\u00e1sa sor\u00e1n alkalmazott mesters\u00e9ges intelligencia rendszerek \u00e9s azok <\/strong>felhaszn\u00e1l\u00e1s\u00e1nak m\u00f3dja. <\/strong><\/p>\n

    A tananyag elsaj\u00e1t\u00edt\u00e1s\u00e1hoz, a tanulm\u00e1nyi teljes\u00edtm\u00e9ny \u00e9rt\u00e9kel\u00e9sek teljes\u00edt\u00e9s\u00e9hez sz\u00fcks\u00e9ges\u00a0<\/strong>ismeretek megszerz\u00e9s\u00e9hez felhaszn\u00e1lhat\u00f3 alapvet\u0151 jegyzetek, tank\u00f6nyvek, seg\u00e9dletek \u00e9s\u00a0<\/strong>szakirodalom list\u00e1ja, pontosan kijel\u00f6lve, mely r\u00e9sz\u00fck ismerete melyik k\u00f6vetelm\u00e9ny\u00a0<\/strong>elsaj\u00e1t\u00edt\u00e1s\u00e1hoz sz\u00fcks\u00e9ges (pl. t\u00e9telenk\u00e9nti bont\u00e1sban), a felhaszn\u00e1lhat\u00f3 fontosabb\u00a0<\/strong>technikai \u00e9s egy\u00e9b seg\u00e9deszk\u00f6z\u00f6k, tanulm\u00e1nyi seg\u00e9danyagok, egyedi vagy csoportos\u00a0<\/strong>hallgat\u00f3i konzult\u00e1ci\u00f3s lehet\u0151s\u00e9g, amennyiben van.<\/strong><\/p>\n

    Online seg\u00e9danyagok:<\/strong><\/p>\n

    \u00a0<\/strong>Nyomtatott seg\u00e9danyagok list\u00e1ja<\/p>\n\n\n\n\n\n\n\n
    \n

    Jelleg<\/u><\/strong><\/p>\n<\/td>\n

    		\n

    Szerz\u0151<\/u><\/strong><\/p>\n<\/td>\n

    		\n

    C\u00edm<\/u><\/strong><\/p>\n<\/td>\n

    		\n

    Kiad\u00f3<\/u><\/strong><\/p>\n<\/td>\n

    		\n

    Kiad\u00e1s \u00e9ve<\/u><\/strong><\/p>\n<\/td>\n<\/tr>\n<\/thead>\n

    \n

    Aj\u00e1nlott<\/p>\n<\/td>\n

    		\n

    Ol\u00e1h \u00c9va<\/p>\n<\/td>\n

    		\n

    Klinikai Genetika<\/p>\n<\/td>\n

    		\n

    Medicina<\/p>\n<\/td>\n

    		\n

    2015<\/p>\n<\/td>\n<\/tr>\n

    \n

    Aj\u00e1nlott<\/p>\n<\/td>\n

    		\n

    Peter D Turnpenny, Sian Ellard, Ruth Cleaver<\/p>\n<\/td>\n

    		\n

    Emery’s Elements of Medical Genetics and Genomics<\/p>\n<\/td>\n

    		\n

    Elsevier<\/p>\n<\/td>\n

    		\n

    2020<\/p>\n<\/td>\n<\/tr>\n

    \n

    Aj\u00e1nlott<\/p>\n<\/td>\n

    		\n

    Jan Diether Murken, Tiemo Grimm, Elke Holinski-Feder, Klaus Zerres<\/p>\n<\/td>\n

    		\n

    Taschenlehrbuch Humangenetik<\/p>\n<\/td>\n

    		\n

    Thieme<\/p>\n<\/td>\n

    		\n

    2017<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

     <\/p>\n

    Online seg\u00e9danyagok list\u00e1ja<\/p>\n\n\n\n\n\n
    \n

    Jelleg<\/u><\/strong><\/p>\n<\/td>\n

    		\n

    Link<\/u><\/strong><\/p>\n<\/td>\n

    		\n

    C\u00edm<\/u><\/strong><\/p>\n<\/td>\n<\/tr>\n<\/thead>\n

    \n

    K\u00f6telez\u0151<\/p>\n<\/td>\n

    		\n

    https:\/\/itc.semmelweis.hu\/moodle\/course\/section.php?id=33633<\/a><\/p>\n<\/td>\n

    		\n

    A kurzus Moodle oldal\u00e1n k\u00f6zz\u00e9tett feladatok \u00e9s h\u00e1tt\u00e9ranyagok.<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

     <\/p>\n\n<\/div>

    Clinical Genetics<\/h2>\n
    \n\n

    Clinical Genetics<\/span><\/h2>\n

    Credit value<\/strong>: 2<\/p>\n

    Semester<\/strong>: 9th semester, 10th semester<\/p>\n

    Type of course<\/strong>: obligatory<\/p>\n

    Language of instruction<\/strong>: English<\/p>\n

    Course code<\/strong>: AOKGRI966_1A<\/p>\n

    Lecturer and Chairman of the Department<\/strong>: Prof. Dr. M\u00e1ria Judit Moln\u00e1r<\/p>\n

    Course Instructor<\/strong>: Dr. Viktor Moln\u00e1r<\/p>\n

    \n

    Objective of instruction and its place in the curriculum:<\/strong><\/p>\n

    The aim of the Clinical Genetics course is to familiarize medical students with the clinical significance of human genome variations and to teach them the fundamentals of diagnosing and managing genetic diseases. The course is centered around clinical cases and everyday medical situations, with special emphasis on the physician’s role in recognizing and managing inherited diseases and developing effective patient communication. During the two-week intensive course, students gain insight into the specific features of both pediatric and adult clinical genetics care. Genetics plays a crucial role in pediatrics, as many severe genetic disorders manifest in childhood, making their recognition and treatment an integral part of pediatric practice. In adult care, clinical genetics is increasingly important in the diagnostics and personalized treatment of neurogenetic disorders, hereditary cancer syndromes, and cardiogenetic conditions. The course not only introduces the diagnostic application of genetic testing but also emphasizes the preventive, predictive, and patient management roles of genetics. The impact of genetic knowledge ranges from supporting therapeutic decisions to shaping public health strategies\u2014such as targeted screening in high-risk groups and the possibilities of newborn genetic screening. Particular attention is given to ethical and communication challenges, especially in situations specific to genetics\u2014such as interpreting presymptomatic results or variants of uncertain significance. Clinical genetics is one of the most rapidly evolving fields in medicine and has become a transdisciplinary science. There is no area of medicine where recognizing and interpreting genetic factors is not relevant. Therefore, this course is a fundamental element of modern medical education and is essential in preparing future physicians for the era of personalized and data-driven medicine.<\/p>\n

    Method of instruction (lecture, group work, practical lesson, etc.):<\/strong> Seminars and practical sessions involving group work and the use of interactive educational materials.<\/p>\n

    Competencies acquired through completion of course:<\/strong> The presentation of disease models related to inherited disorders through real clinical situations, integrated into a problem-based learning framework, enhances students’ independent and group problem-solving abilities. Due to the extraordinary heterogeneity of inherited diseases, it is not our goal to comprehensively cover the entire subject matter during the two-week course. This is exactly what makes the course special: it offers students the opportunity to experience the process of problem-solving, overcoming new challenges, and successfully handling previously unknown situations. Problem-based learning not only maintains interest and makes the learning process enjoyable, but it also fosters professional development and the formation of a mindset for lifelong learning, which is essential in healthcare professions. After successfully completing the course, students will possess knowledge of the most common genetic and genomic predictive, preventive, diagnostic, and pharmacogenomic concepts. They will understand the purpose and methodology of genetic counseling and become familiar with the principles, professional guidelines, and ethical dilemmas involved in diagnostic and therapeutic decision-making.<\/p>\n

    In practice, students will learn how to: (1) identify clinically relevant family history and when to consider a genetic disorder, (2) select and interpret the most appropriate genetic tests, (3) ntegrate genomic information into treatment decision-making. Through various real and synthetic clinical cases, and direct involvement in outpatient and inpatient care, students will learn how to: (1) collect relevant information from various sources, (2) use artificial intelligence-based decision-support systems to recognize phenotypic patterns, (3) communicate with patients and their families living with inherited diseases in a counseling role, (4) collaborate in multidisciplinary teams while addressing real diagnostic challenges.<\/p>\n

    Prerequisites for course registration and completion<\/strong>: Pharmacology II. , Genetics and Genomics, Pathology II.<\/p>\n

    \n

    Detailed course syllabus<\/strong>: According to the syllabus, the course sessions follow the sequence outlined below for the Hungarian and foreign language student groups participating in the paediatric rotation of the 1st term. In the 2nd term, the order of the Clinical Genetics modules related to adult and paediatric care is reversed, as detailed in the attached schedule.<\/p>\n

      \n
    1. The role of clinical genetics in patient care |90’| day 1 Institute of Genomic Medicine and Rare Disorders (GRI) — Prof.Dr. Moln\u00e1r M\u00e1ria Judit, Dr. Grosz Zolt\u00e1n<\/li>\n
    2. Outpatient\/Inpatient unit |90’| day 1 GRI — Prof.Dr. Moln\u00e1r M\u00e1ria Judit, Dr. Varga No\u00e9mi \u00c1gnes, Dr. Pal\u00e1sti \u00c1gnes, Dr. Benedek P\u00e9ter, Prof.Dr. Moln\u00e1r M\u00e1ria Judit<\/li>\n
    3. Diagnostic strategies and interpretation of genetic test results |90’| day 2 GRI — Dr. Balicza P\u00e9ter, Dr. Moln\u00e1r Viktor<\/li>\n
    4. Outpatient\/Inpatient unit |90’| day 2 GRI — Dr. Grosz Zolt\u00e1n, Dr. Szegedi M\u00e1rta, Dr. Pal\u00e1sti \u00c1gnes, Dr. Benedek P\u00e9ter<\/li>\n
    5. Personalized medicine and management of hereditary diseases |90’| day 4 GRI — Prof.Dr. Moln\u00e1r M\u00e1ria Judit, Dr. Cs\u00e1nyin\u00e9 S\u00e1gi Judit<\/li>\n
    6. Genetic counseling |90’| day 4 GRI — Dr. Szegedi M\u00e1rta, Dr. Csendes Barbara<\/li>\n
    7. Team competition |90’| day 4 GRI — Dr. Csendes Barbara, Dr. Moln\u00e1r Viktor<\/li>\n
    8. Dysmorphology (recognizing syndromes based on malformations) |45’| day 5 Gyer2 — Dr. Pinti \u00c9va, Dr.Lengyel Anna<\/li>\n
    9. Assessing the pathogenicity of copy number variations |45’| day 5 Pediatric Center T\u0171zolt\u00f3 street unit — Dr. Pinti \u00c9va<\/li>\n
    10. Importance of tumor predisposition syndromes in childhood |45’| day 5 Pediatric Center T\u0171zolt\u00f3 street unit — Dr. Pinti \u00c9va, Dr.Lengyel Anna<\/li>\n
    11. Relevance of identifying somatic variants in childhood malignancies |45’| day 5 Pediatric Center T\u0171zolt\u00f3 street unit —Dr. Egyed B\u00e1lint, Dr. Erd\u00e9lyi D\u00e1niel<\/li>\n
    12. Role of genetics in pediatrics, distinguishing main childhood mechanisms |45’| day 6 Pediatric Center B\u00f3kay street unit — Dr. Tory K\u00e1lm\u00e1n, Dr. Fekete Anett<\/li>\n
    13. When to suspect a genetic disorder: pediatric spot diagnoses, mechanism and inheritance, ethical challenges |45’| day 6 Pediatric Center B\u00f3kay street unit — Dr. Tory K\u00e1lm\u00e1n, Dr. Antal-K\u00f3nya Violetta<\/li>\n
    14. Metabolic disorders associated with intoxication |45’| day 6 Pediatric Center B\u00f3kay street unit — Dr. Zsidegh Petra, Dr. P\u00e1lmay Andrea<\/li>\n
    15. Inborn errors of metabolism with substrate deficiency and lisosomal storage disorders |45’| day 6 Pediatric Center B\u00f3kay street unit — Dr. Zsidegh Petra, Dr. P\u00e1lmay Andrea<\/li>\n
    16. Chromatograms, analysis of QMPSF |45’| day 6 Pediatric Center B\u00f3kay street unit — Dr. J\u00e1vorszky Eszter, N\u00e9methi Zar\u00e1nd<\/li>\n
    17. Evaluating variant pathogenicity in pediatric practice |45’| day 6 Pediatric Center B\u00f3kay street unit —<\/li>\n
    18. Ward practice (hereditary liver, kidney, intestinal, neurological diseases, malformations, presentation) |90’| day 7 Pediatric Center B\u00f3kay street unit — Dr. Fekete Anett<\/li>\n
    19. Metabolic workshop |45’| day 7 Pediatric Center B\u00f3kay street unit — Dr. Kerti Andrea<\/li>\n
    20. Pediatric ethical issues and research opportunities |45’| day 7 Pediatric Center B\u00f3kay street unit —<\/li>\n
    21. Exam |30’| day 10<\/li>\n<\/ol>\n

       <\/p>\n

      Requirements for attendance, options for making up missed sessions, and method of absence justification:<\/strong> According to the Academic and Examination Regulations, in the case of block teaching, obtaining the course signature requires participation in at least 90% of the organized practical sessions and seminars. This allows for absence from a maximum of one 90-minute and one 45-minute module. Make-up opportunities are available during an educational week agreed upon in advance with the academic coordinator.<\/p>\n

      Assessment methods during semester (number, topics, and dates of midterms and reports, method of inclusion in the course grade, opportunities for make-up and improvement of marks):<\/strong> Due to the short duration of the course, there will be no interim formal assessments. However, the interactive nature of the practical sessions and consultations provides opportunities to monitor students’ knowledge and the application of information, as well as to offer feedback. In certain sessions, questions may arise that presuppose familiarity with previously assigned background materials.<\/p>\n

      Number and type of individual assignments to be completed, submission deadlines:<\/strong> According to the flipped classroom model, independent preparation is required for certain sessions (The role of clinical genetics in patient care, Diagnostic strategies and interpretation of genetic test results, Personalized medicine and management of hereditary diseases), using the provided preparatory materials. During the solution of the tasks assigned to each student group, students will also familiarize themselves with half of the exam questions (not pre-published), which are related to the focus diseases (approximately 10 per course).<\/p>\n

      Requirements for the successful completion of the course<\/strong>: At least 90% attendance is required for course completion. Attendance is verified through registration combined with evaluation at the end of each session. The link required for the evaluation is provided in a shared document sent via the Neptun system to group members during the week prior to the course.<\/p>\n

      Type of assessment:<\/strong> terminal examination<\/p>\n

      Exam requirements (list of topics, topics of the test exam, and the optional project topics accepted as an exam)<\/strong> Successful completion of the course requires obtaining the course signature (with no more than 10% absence, including make-up sessions) and passing the written exam. The exam includes problemand practice-oriented questions that comprehensively cover the course curriculum. In accordance with \u00a730 of Senate Resolution 26\/2025. (III.27.) (53720\/AOADH\/2025), which governs course requirements for the 2025\/2026 academic year, the written test includes only written tasks, and both the test questions and corresponding answers are made available to all students in advance.<\/p>\n

      Clear, specific minimum requirements for assessment. (The list of mandatory concepts, parameters, diagrams, calculations, and practical skills required to obtain a passing grade, as well as the criteria for the completion and evaluation of project assignments accepted as an exam.) <\/strong>A link published on the department\u2019s website referring to the minimum requirements of the course. Description and minimum assessment requirements for the Clinical Genetics course: https:\/\/semmelweis.hu\/genomikai-medicina\/en\/education\/clinical-genomics-i\/<\/p>\n

      Method and type of grading:<\/strong> The written test consists of 30 multiple-choice questions, with a total of 100 points available. Grading is based on the following scale: 90% and above: Excellent (5) 80\u201389%: Good (4) 70\u201379%: Satisfactory (3) 60\u201369%: Pass (2) Below 60%: Fail (1)<\/p>\n

      During the written test, students are expected to demonstrate not only their theoretical knowledge but also its practical application.<\/p>\n

      List of coursebooks, textbooks, study aids and literature facilitating the acquisition of knowledge to complete the course and included in the assessment, precisely indicating which requirement each item is related to (e.g., topic by topic) as well as a list of important technical and other applicable study aids; possibility of individual or group student consultation, if available:<\/strong><\/p>\n

      Online resources<\/strong>:<\/p>\n

       <\/p>\n\n\n\n\n\n
      \n

      Required<\/u><\/strong><\/p>\n<\/td>\n

      		\n

      Link<\/u><\/strong><\/p>\n<\/td>\n

      		\n

      Title<\/u><\/strong><\/p>\n<\/td>\n<\/tr>\n<\/thead>\n

      \n

      Yes<\/p>\n<\/td>\n

      		\n

      https:\/\/itc.semmelweis.hu\/moodle<\/a><\/p>\n<\/td>\n

      		\n

      Assignments and background material published on the course<\/p>\n

      Moodle site.<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

       <\/p>\n\n\n\n\n\n
      \n

      Required<\/u><\/strong><\/p>\n<\/td>\n

      		\n

      Author<\/u><\/strong><\/p>\n<\/td>\n

      		\n

      Title<\/u><\/strong><\/p>\n<\/td>\n

      		\n

      Publisher<\/u><\/strong><\/p>\n<\/td>\n

      		\n

      Year of publication<\/u><\/strong><\/p>\n<\/td>\n<\/tr>\n<\/thead>\n

      \n

      Recommended<\/p>\n<\/td>\n

      		\n

      Peter D Turnpenny, Sian Ellard, Ruth Cleaver<\/p>\n<\/td>\n

      		\n

      Emery’s Elements of Medical Genetics and Genomics<\/p>\n<\/td>\n

      		\n

      Elsevier<\/p>\n<\/td>\n

      		\n

      2020<\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

       <\/p>\n

       <\/p>\n\n<\/div>

      Klinische Genetik<\/h2>\n
      \n\n

      Klinische Genetik<\/span><\/h2>\n

      NEPTUN-Code: AOKGRI764_1N<\/strong><\/p>\n

      Dozent und Vorsitzender der Abteilung:<\/strong> Prof. Dr. M\u00e1ria Judit Moln\u00e1r<\/p>\n

      Kursleiter:<\/strong> Dr. Viktor Moln\u00e1r<\/p>\n

      \n

      Anfragen in Bezug auf Studienangelegenheiten sind an die E-Mail-Adresse von Andrea T\u00f3th, Leiterin des Sekretariats, gerichtet, die sie an die entsprechende Person weiterleitet:<\/p>\n

      toth.andrea@semmelweis.hu<\/a><\/p>\n

      E-Mails m\u00fcssen den vollst\u00e4ndigen Namen und den NEPTUN-Code der Studenten enthalten.<\/p>\n

      Lernveranstaltungen<\/strong><\/p>\n

      Datum: <\/strong>gem\u00e4\u00df Blockplanung (NEPTUN)<\/p>\n

      \u00a0<\/p>\n

      Weitere Studienangelegenheiten:<\/strong><\/p>\n

      Kreditpunkte: 2<\/p>\n

      Anwesenheitsvoraussetzungen und Ausgleich von Abwesenheiten: Die Teilnahme an 75% der Unterrichte ist das Mindestkriterium f\u00fcr die Erlangung der Unterschrift.<\/p>\n

      Vorf\u00e4cher: Pharmakologie II, Genetik und Genomik, Pathologie II<\/p>\n

      Pr\u00fcfungsform: schriftliche Pr\u00fcfung<\/p>\n

      Anmeldung zur Pr\u00fcfung: NEPTUN<\/p>\n

      N\u00fctzliche Lernmaterialien: Moodle<\/p>\n

      \u00dcberblick \u00fcber das einw\u00f6chige Blockpraktikum:<\/strong><\/p>\n

      \"\"<\/a><\/p>\n\n<\/div>

      Disruptive Technologies<\/h2>\n
      \n\n

      Disruptive medical technologies – elective course in English<\/span><\/span><\/h2>\n

      Lecturer and Chairman of the Department:<\/strong> Prof. Dr. M\u00e1ria Judit Moln\u00e1r<\/p>\n

      Lecturer:<\/strong> Dr. Bertalan Mesk\u00f3<\/p>\n

      Course Instructor:<\/strong> Dr. Idris J\u00e1nos Jimoh<\/p>\n

      \n

      Disruptive technologies bring groundbreaking changes to medicine and healthcare. While medical students are being prepared for the present conditions, medical technology is going to add different values and require new skills by the time students graduate, therefore modern medical education must prepare them for a world they will have to face in their professional lives. This course was designed to present and analyze today’s medical challenges with tomorrow’s technologies in a meaningful way addressing skills that students will be able to implement in their everyday practices.<\/p>\n

      Code: AOSGRI374_1A<\/strong><\/p>\n

      Date:<\/strong> to be decided<\/p>\n

      Place:<\/strong> Semmelweis University Basic Medical Science Center, H-1083 T\u0171zolt\u00f3 Str. 34-37. Budapest, Hungary, HEVESSY Hall.<\/p>\n

      Credit value:<\/strong> 1 point<\/p>\n

      Topics:<\/strong><\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
      \n
      Idris J\u00e1nos Jimoh \/ Judit M\u00e1ria Moln\u00e1r: Introduction<\/div>\n<\/td>\n<\/tr>\n
      \n
      Bertalan Mesk\u00f3: Your A.I. Prescription<\/div>\n<\/td>\n<\/tr>\n
      \n
      Jimoh Idris J\u00e1nos: Future of Medicine<\/div>\n<\/td>\n<\/tr>\n
      \n
      Viktor Moln\u00e1r: Mobile health and the wearable sensor revolution<\/div>\n<\/td>\n<\/tr>\n
      \n
      P\u00e9ter Balicza: Medical application of artificial intelligence<\/div>\n<\/td>\n<\/tr>\n
      \n
      Gy\u00f6rgy N\u00e9meth: Personal Medicine, Genomic Medicine<\/div>\n<\/td>\n<\/tr>\n
      \n
      Judit M\u00e1ria Molnar: Biotechnology<\/div>\n<\/td>\n<\/tr>\n
      \n
      Tam\u00e1s Tompa: Optogenetics<\/div>\n<\/td>\n<\/tr>\n
      \n
      Imre Barab\u00e1s: 3D printing<\/div>\n<\/td>\n<\/tr>\n
      \n
      Idris J\u00e1nos Jimoh: Gene editing<\/div>\n<\/td>\n<\/tr>\n
      \n
      G\u00e1l Viktor: Personal Medicine \u2013 Imaging and Health<\/div>\n<\/td>\n<\/tr>\n
      \n
      Idris J\u00e1nos Jimoh \/ Judit M\u00e1ria Moln\u00e1r: Presentation of the selected topic\u00a0<\/div>\n<\/td>\n<\/tr>\n
      \n
      Idris J\u00e1nos Jimoh: Examination<\/div>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n
      \u00a0<\/div>\n

      Requirements for signature: maximum 2 absences from classes and 60%+ on the final exam (written)<\/p>\n

      The exam can be substituted by group oral presentations.<\/p>\n

      Planned grade categories:<\/p>\n

      Excellent (5): 100- 90%<\/p>\n

      Good (4): 89- 80%<\/p>\n

      Satisfactory (3): 79- 70%<\/p>\n

      Sufficient (2): 69- 60%<\/p>\n

      Fail (1): under 60%<\/p>\n

       <\/p>\n

      List of texbooks:<\/p>\n

      Social Media in Clinical Practice, Springer, 2013.<\/p>\n

      The Guide to the Future of Medicine: http:\/\/scienceroll.com\/2013\/10\/30\/whitepaper\/<\/a>\u00a0<\/p>\n\n<\/div>

      Prec\u00edzi\u00f3s ter\u00e1pi\u00e1k<\/h2>\n
      \n\n

      A ritka betegs\u00e9gek ter\u00e1pi\u00e1s lehet\u0151s\u00e9gei a prec\u00edzi\u00f3s medicina korszak\u00e1ban<\/span><\/h2>\n

      NEPTUN k\u00f3d:<\/strong> AOVGRI1153_1M<\/p>\n

      A tant\u00e1rgy el\u0151ad\u00f3ja:<\/strong> Prof. Dr. Moln\u00e1r M\u00e1ria Judit
      \nTanulm\u00e1nyi felel\u0151s:<\/strong> Cs\u00e1nyin\u00e9 Dr. S\u00e1gi Judit<\/p>\n

      Klinikai modul \u2013 k\u00f6telez\u0151en v\u00e1laszthat\u00f3 t\u00e1rgy, \u00c1OK k\u00e9pz\u00e9sben<\/strong><\/p>\n

      Kredit:<\/strong> 2
      \nAj\u00e1nlott szemeszter:<\/strong> 9. szemeszter<\/p>\n

      L\u00e9tsz\u00e1m:<\/strong> minimum 10 f\u0151, maximum 25 f\u0151<\/p>\n

      A t\u00e1rgy c\u00e9lja<\/strong><\/p>\n

      A tant\u00e1rgy c\u00e9lja, hogy a hallgat\u00f3k megismerj\u00e9k a ritka betegs\u00e9gek korszer\u0171 ter\u00e1pi\u00e1s lehet\u0151s\u00e9geit a prec\u00edzi\u00f3s medicina szeml\u00e9let\u00e9ben, k\u00fcl\u00f6n\u00f6s tekintettel a modern, innovat\u00edv kezel\u00e9si strat\u00e9gi\u00e1kra \u00e9s azok klinikai alkalmaz\u00e1s\u00e1ra.<\/p>\n

      A kurzus fel\u00e9p\u00edt\u00e9se<\/strong><\/p>\n

      A kurzus el\u0151ad\u00e1sok \u00e9s interakt\u00edv szemin\u00e1riumok form\u00e1j\u00e1ban zajlik, kiscsoportos feladatmegold\u00e1ssal.<\/p>\n

      A t\u00e1rgy f\u0151bb t\u00e9mak\u00f6rei<\/strong><\/p>\n

        \n
      • G\u00e9nter\u00e1pia<\/li>\n
      • RNS-alap\u00fa ter\u00e1pi\u00e1k<\/li>\n
      • Enzim p\u00f3tl\u00f3 kezel\u00e9sek<\/li>\n
      • Immunmodul\u00e1l\u00f3 ter\u00e1pi\u00e1k<\/li>\n
      • \u0150ssejt-transzplant\u00e1ci\u00f3<\/li>\n
      • Klinikai vizsg\u00e1latok szerepe<\/li>\n
      • Ter\u00e1pi\u00e1s hat\u00e9konys\u00e1g k\u00f6vet\u00e9se<\/li>\n
      • \u201eTreatabolome\u201d adatb\u00e1zisok<\/li>\n
      • Prec\u00edzi\u00f3s medicina alkalmaz\u00e1sa<\/li>\n
      • Betegk\u00f6zpont\u00fa ell\u00e1t\u00e1s<\/li>\n<\/ul>\n

        Sz\u00e1monk\u00e9r\u00e9s<\/strong><\/p>\n

        A megszerzett ismeretek ellen\u0151rz\u00e9se a szemeszter v\u00e9g\u00e9n t\u00f6rt\u00e9nik, kiscsoportos prezent\u00e1ci\u00f3 \u00e9s \u00edr\u00e1sbeli teszt form\u00e1j\u00e1ban.<\/p>\n

        Az \u00e9rdemjegy kialak\u00edt\u00e1sa<\/strong><\/p>\n

          \n
        • 50%: kiscsoportos prezent\u00e1ci\u00f3<\/li>\n
        • 50%: \u00edr\u00e1sbeli teszt<\/li>\n<\/ul>\n

          \u00c9rt\u00e9kel\u00e9s:<\/p>\n

            \n
          • 90\u2013100%: jeles<\/li>\n
          • 80\u201389%: j\u00f3<\/li>\n
          • 70\u201379%: k\u00f6zepes<\/li>\n
          • 60\u201369%: el\u00e9gs\u00e9ges<\/li>\n
          • 60% alatt: el\u00e9gtelen<\/li>\n<\/ul>\n

            Minimumk\u00f6vetelm\u00e9nyek<\/strong><\/p>\n

            Az el\u00e9gs\u00e9ges \u00e9rdemjegy megszerz\u00e9s\u00e9nek felt\u00e9tele a ritka betegs\u00e9gek ter\u00e1pi\u00e1s lehet\u0151s\u00e9geinek alapvet\u0151 ismerete, k\u00fcl\u00f6n\u00f6s tekintettel a g\u00e9nter\u00e1pia, RNS-alap\u00fa ter\u00e1pi\u00e1k, enzim p\u00f3tl\u00f3 kezel\u00e9sek \u00e9s immunmodul\u00e1l\u00f3 ter\u00e1pi\u00e1k alapelveire \u00e9s klinikai alkalmaz\u00e1s\u00e1ra.<\/p>\n

            A hallgat\u00f3nak k\u00e9pesnek kell lennie egy v\u00e1lasztott t\u00e9ma l\u00e9nyeg\u00e9nek struktur\u00e1lt bemutat\u00e1s\u00e1ra kiscsoportos prezent\u00e1ci\u00f3 keret\u00e9ben, valamint az \u00edr\u00e1sbeli teszt sor\u00e1n a tananyag legal\u00e1bb 60%-\u00e1nak teljes\u00edt\u00e9s\u00e9re.<\/p>\n

            El\u0151tanulm\u00e1nyi felt\u00e9telek<\/strong><\/p>\n

            Genetika \u00e9s genomika, Farmakol\u00f3gia II<\/p>\n

            Aj\u00e1nlott irodalom<\/strong><\/p>\n

              \n
            • Ol\u00e1h \u00c9va (szerk.): Klinikai genetika<\/em>. Medicina, 2015<\/li>\n
            • Turnpenny PD, Ellard S, Cleaver R: Emery\u2019s Elements of Medical Genetics and Genomics<\/em>. Elsevier, 2020<\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"

              Klinikai genetika Tant\u00e1rgy kredit\u00e9rt\u00e9ke: 2 Szemeszter: 9. szemeszter, 10. szemeszter Tant\u00e1rgy t\u00edpusa: k\u00f6telez\u0151\u00a0 K\u00f6telez\u0151en- vagy szabadon v\u00e1laszthat\u00f3 tant\u00e1rgy eset\u00e9n a k\u00e9pz\u00e9s nyelve: magyar\u00a0\u00a0 Tant\u00e1rgy k\u00f3dja : AOKGRI966_1M Tant\u00e1rgyfelel\u0151s neve: \u00a0Prof. Dr. Moln\u00e1r M\u00e1ria Judit,\u00a0 int\u00e9zetigazgat\u00f3 egyetemi tan\u00e1r Tanulm\u00e1nyi felel\u0151s:\u00a0Dr. Szegedi M\u00e1rta\u00a0\u00a0 A tant\u00e1rgy oktat\u00e1s\u00e1nak c\u00e9lkit\u0171z\u00e9se, helye az orvosk\u00e9pz\u00e9s kurrikulum\u00e1ban: A Klinikai Genetika tant\u00e1rgy c\u00e9lja, hogy …<\/p>\n","protected":false},"author":101429,"featured_media":0,"parent":2685,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"class_list":["post-62","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/pages\/62","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/users\/101429"}],"replies":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/comments?post=62"}],"version-history":[{"count":13,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/pages\/62\/revisions"}],"predecessor-version":[{"id":4412,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/pages\/62\/revisions\/4412"}],"up":[{"embeddable":true,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/pages\/2685"}],"wp:attachment":[{"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/media?parent=62"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/categories?post=62"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/semmelweis.hu\/genomikai-medicina\/wp-json\/wp\/v2\/tags?post=62"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}