T\u0131p geneti\u011fi uzmanlar\u0131, \u201cKalp ve Beyin\u201d ekibinden, Do\u00e7. Dr. Elitsa Becheva-Kraychir liderli\u011finde, Avrupa \u0130nsan Geneti\u011fi Derne\u011fi’nin (ESHG) y\u0131ll\u0131k konferans\u0131nda muhte\u015fem bir performans sergiledi. Konferans, 24-27 May\u0131s tarihleri aras\u0131nda Milano’nun merkezinde bulunan en b\u00fcy\u00fck kongre merkezlerinden biri olan AlianzMiCo \u2013 Milan Convention Center’da ger\u00e7ekle\u015ftirildi. Bu b\u00fcy\u00fck etkinli\u011fe 90’dan fazla \u00fclkeden 5600’den fazla kat\u0131l\u0131mc\u0131 kat\u0131ld\u0131. T\u0131bbi Genetik Laboratuvar\u0131, hastanenin molek\u00fcler genetik ve sitogenetik laboratuvarlar\u0131nda elde edilen sonu\u00e7lar ve uzmanlar\u0131n t\u0131bbi genetik dan\u0131\u015fmanl\u0131\u011f\u0131 temelinde haz\u0131rlanan \u00fc\u00e7 posterle konferansa kat\u0131ld\u0131.<\/p>\n
Dr. Lilia Nikolova-Georgieva, PKLR geninde yeni tespit edilen homozigot delesyonun sonucu olan a\u011f\u0131r formda konjenital transf\u00fczyona ba\u011f\u0131ml\u0131 hemolitik anemi vakas\u0131n\u0131 sundu. Dr. Todor Vasilev’in posteri, NEXN ile ili\u015fkili kardiyomiyopatiye yatk\u0131nl\u0131\u011f\u0131 olan bir hastada kal\u0131tsal Alagil sendromunu tan\u0131mlamaktad\u0131r. Dr. Petya Angelova’n\u0131n sundu\u011fu \u00fc\u00e7\u00fcnc\u00fc poster, sitogenetik laboratuvar\u0131n \u00e7al\u0131\u015fmas\u0131n\u0131n bir sonucu olup, \u00fc\u00e7 ku\u015faktaki akrabalar\u0131 etkileyen 11. kromozomda nadir g\u00f6r\u00fclen bir kal\u0131tsal kromozom aberasyonunu tan\u0131mlamaktad\u0131r.<\/p>\n
Dr. Natalia Todorova, birka\u00e7 g\u00fcn \u00f6nce Bologna \u00dcniversitesi’ne ba\u011fl\u0131 Bertinoro \u00dcniversite Konaklama Merkezi’nde d\u00fczenlenen \u201cKlinik Genomik ve NGS\u201d kursuna kat\u0131ld\u0131. Kurs program\u0131, genetik ve biyoinformatik alanlar\u0131nda \u00f6nde gelen uzmanlar taraf\u0131ndan verilen dersleri ve ard\u0131ndan \u00f6\u011fleden sonra d\u00fczenlenen \u00e7al\u0131\u015fma seminerlerini i\u00e7eriyordu. Klinik odakl\u0131 seminerler, interaktif tart\u0131\u015fma format\u0131 ve biyoinformatik seminerleri, biyolojik verilerin analizi ve yorumlanmas\u0131 i\u00e7in pratik al\u0131\u015ft\u0131rmalar ile teorik derslerin m\u00fckemmel bir tamamlay\u0131c\u0131s\u0131 oldu.<\/p>\n
\u201cB\u00fcy\u00fck Avrupa forumlar\u0131nda yapt\u0131klar\u0131 sunumlarla, uzmanlar\u0131m\u0131z nadir ve karma\u015f\u0131k genetik sendromlar\u0131n tan\u0131mlanmas\u0131nda sahip olduklar\u0131 geni\u015f klinik deneyimlerini sergilediler. Bu sendromlar\u0131n erken a\u015famada tespit edilmesi, hastalar\u0131m\u0131z\u0131n uygun tedaviye zaman\u0131nda ba\u015flanmas\u0131 a\u00e7\u0131s\u0131ndan son derece \u00f6nemli olabilir\u201d bilgilendiriyor Do\u00e7. Kraychir, genetik laboratuvar\u0131n\u0131n ba\u015fkan\u0131.<\/p>\n","protected":false},"excerpt":{"rendered":"
T\u0131p geneti\u011fi uzmanlar\u0131, \u201cKalp ve Beyin\u201d ekibinden, Do\u00e7. Dr. Elitsa Becheva-Kraychir liderli\u011finde, Avrupa \u0130nsan Geneti\u011fi Derne\u011fi’nin (ESHG) y\u0131ll\u0131k konferans\u0131nda muhte\u015fem bir performans sergiledi. Konferans, 24-27 May\u0131s tarihleri aras\u0131nda Milano’nun merkezinde bulunan en b\u00fcy\u00fck kongre merkezlerinden biri olan AlianzMiCo \u2013 Milan Convention Center’da ger\u00e7ekle\u015ftirildi. Bu b\u00fcy\u00fck etkinli\u011fe 90’dan fazla \u00fclkeden 5600’den fazla kat\u0131l\u0131mc\u0131 kat\u0131ld\u0131. T\u0131bbi Genetik […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[200],"tags":[],"class_list":["post-52320","post","type-post","status-publish","format-standard","hentry","category-haber"],"_links":{"self":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts\/52320","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/comments?post=52320"}],"version-history":[{"count":2,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts\/52320\/revisions"}],"predecessor-version":[{"id":52322,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/posts\/52320\/revisions\/52322"}],"wp:attachment":[{"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/media?parent=52320"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/categories?post=52320"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cardiacinstitute.bg\/tr\/wp-json\/wp\/v2\/tags?post=52320"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}