{"id":2716,"date":"2019-04-24T20:13:12","date_gmt":"2019-04-25T01:13:12","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2716"},"modified":"2021-02-19T18:31:17","modified_gmt":"2021-02-19T18:31:17","slug":"lgmd-researcher-hartzell","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/lgmd2l\/2019\/04\/24\/lgmd-researcher-hartzell\/","title":{"rendered":"LGMD ARA\u015eTIRMACISI: H. Criss Hartzell"},"content":{"rendered":"
\"\"<\/figure>\n

\"LGMD ARA\u015eTIRMAYA I\u015eIK TUTUYOR\"<\/strong><\/p>\n

LGMD ARA\u015eTIRMACISI:\u00a0 <\/strong>\u00a0H. Criss Hartzell<\/p>\n

Ba\u011fl\u0131l\u0131k:\u00a0 <\/strong>Emory \u00dcniversitesi T\u0131p Fak\u00fcltesi<\/p>\n

Rol veya Pozisyon:\u00a0 <\/strong>Profes\u00f6r<\/p>\n

\u015eu anki pozisyonunuza gelmek i\u00e7in hangi e\u011fitim ve \u00f6\u011fretimi ald\u0131n\u0131z?<\/strong><\/p>\n

B.A. Lawrence \u00dcniversitesi, Kimya ve Biyoloji B\u00f6l\u00fcm\u00fc<\/p>\n

Johns Hopkins \u00dcniversitesi Biyoloji B\u00f6l\u00fcm\u00fc'nde doktora yapt\u0131.<\/p>\n

Harvard T\u0131p Fak\u00fcltesi N\u00f6robiyoloji B\u00f6l\u00fcm\u00fc'nde doktora sonras\u0131 ara\u015ft\u0131rma<\/p>\n

Sizi ara\u015ft\u0131rma alan\u0131nda kariyer yapmaya ve \u00f6zellikle kas distrofisi \u00fczerine \u00e7al\u0131\u015fmaya y\u00f6nlendiren neydi?<\/strong><\/p>\n

Kendimi bildim bileli bilime ilgi duymu\u015fumdur. \u00dcniversitedeyken kas kas\u0131lmas\u0131n\u0131n \u00e7apraz k\u00f6pr\u00fc teorisi \u00fczerine bir Scientific American makalesi okudum ve kas\u0131n temelde molek\u00fcler bir makine oldu\u011fu fikrinden \u00e7ok etkilendim. Doktora \u00e7al\u0131\u015fmam n\u00f6rom\u00fcsk\u00fcler kav\u015faktaki asetilkolin resept\u00f6rlerini inceledi ve myastenia gravis hastal\u0131\u011f\u0131nda n\u00f6rom\u00fcsk\u00fcler kav\u015fakta asetilkolin resept\u00f6rlerinin say\u0131s\u0131n\u0131n azald\u0131\u011f\u0131n\u0131 ke\u015ffetmeme yol a\u00e7t\u0131. Harvard'da doktora sonras\u0131 ara\u015ft\u0131rmac\u0131 olarak musk\u00fcler distrofi derne\u011finde \u00e7al\u0131\u015ft\u0131m.<\/p>\n

Hangi konular \u00fczerinde \u00e7al\u0131\u015f\u0131yorsunuz?<\/strong><\/p>\n

\u00a0ANO5 proteini \u00fczerinde \u00e7al\u0131\u015f\u0131yoruz. ANO5 mutasyonlar\u0131 4inci<\/sup> LGMD'nin en yayg\u0131n \"nedenidir\", ancak ANO5'in ne yapt\u0131\u011f\u0131 veya nas\u0131l \u00e7al\u0131\u015ft\u0131\u011f\u0131 hakk\u0131nda neredeyse hi\u00e7bir \u015fey bilinmemektedir. Kas zar\u0131 onar\u0131m\u0131nda rol oynad\u0131\u011f\u0131na inan\u0131yoruz. Bu sorunu h\u00fccresel ve molek\u00fcler d\u00fczeyde inceliyoruz.<\/p>\n

\u00c7al\u0131\u015fman\u0131z hastalara nas\u0131l yard\u0131mc\u0131 olacak? Do\u011fas\u0131 gere\u011fi daha bilimsel mi yoksa LGMD i\u00e7in bir tedavi olabilir mi?<\/strong>s veya MD<\/strong>genel olarak?<\/strong><\/p>\n

ANO5'in temel molek\u00fcler ve h\u00fccre biyolojisini anlaman\u0131n, bu LGMD (2L) formuna y\u00f6nelik tedaviler geli\u015ftirmek i\u00e7in bir \u00f6n ko\u015ful oldu\u011funa inan\u0131yoruz. Ayr\u0131ca, kas zar\u0131 onar\u0131m\u0131n\u0131n nas\u0131l ger\u00e7ekle\u015fti\u011fine dair edindi\u011fimiz bilgilerin di\u011fer LGMD tedavileri i\u00e7in yeni ipu\u00e7lar\u0131 sa\u011flayaca\u011f\u0131n\u0131 d\u00fc\u015f\u00fcn\u00fcyoruz.<\/p>\n

Hastalar\u0131n ve LGMD ile ilgilenen di\u011fer ki\u015filerin ara\u015ft\u0131rma hakk\u0131nda (kendi projeleriniz ve genel olarak alan hakk\u0131nda) ne bilmelerini istersiniz?<\/strong><\/p>\n

Temel ara\u015ft\u0131rmalar sinir bozucu bir \u015fekilde yava\u015f ilerliyor \u00e7\u00fcnk\u00fc bo\u015f bir sayfadan ba\u015fl\u0131yoruz ve yeni ara\u00e7lar geli\u015ftirmemiz gerekiyor. ancak, laboratuvar\u0131mdaki insanlar kendilerini i\u015flerine adam\u0131\u015f durumdalar, g\u00fcnde 12 saat \u00e7al\u0131\u015f\u0131yorlar ve cevaplamak istedi\u011fimiz sorular\u0131 nas\u0131l \u00e7\u00f6zece\u011fimiz konusunda d\u00fc\u015f\u00fcnmeyi ve endi\u015felenmeyi nadiren b\u0131rak\u0131yorlar. ara\u015ft\u0131rmam\u0131z\u0131 finanse eden vergi m\u00fckelleflerinin ve ba\u011f\u0131\u015f\u00e7\u0131lar\u0131n deste\u011fini takdir ediyoruz.<\/p>\n

Bu alanda \u00e7al\u0131\u015fmaya devam etmek i\u00e7in size ilham veren nedir? <\/strong><\/p>\n

Obsesif\/kompulsif bir ki\u015fili\u011fim var ve i\u015flerin nas\u0131l y\u00fcr\u00fcd\u00fc\u011f\u00fcn\u00fc anlayana kadar rahat edemiyorum. Bu rahats\u0131zl\u0131klardan muzdarip olan, hasta arkada\u015flar\u0131n\u0131 destekleyen ve LGMD toplulu\u011funu birle\u015ftirmek i\u00e7in \u00e7al\u0131\u015fan insanlardan ilham al\u0131yorum.<\/p>\n

Hastalar sizi nas\u0131l te\u015fvik edebilir ve \u00e7al\u0131\u015fmalar\u0131n\u0131za nas\u0131l yard\u0131mc\u0131 olabilir?<\/strong><\/p>\n

\u00a0Ara\u015ft\u0131rmalar\u0131m\u0131zda kar\u015f\u0131la\u015ft\u0131\u011f\u0131m\u0131z en b\u00fcy\u00fck engellerden biri insan dokusuna eri\u015fimdir. Fare ve h\u00fccre k\u00fclt\u00fcr\u00fc modellerini kullanarak \u00e7ok \u015fey \u00f6\u011frenebilsek de, insan hastal\u0131\u011f\u0131n\u0131 anlamak i\u00e7in insan dokusu kullanmak gerekiyor. Biyopsi vermeye ve hastal\u0131\u011f\u0131n ilerleyi\u015fine dair ki\u015fisel g\u00f6r\u00fc\u015flerini payla\u015fmaya istekli hastalar, ara\u015ft\u0131rma program\u0131m\u0131za muazzam bir de\u011fer kat\u0131yor.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":4258,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,49,92],"tags":[],"class_list":["post-2716","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-lgmd2l","category-researcher"],"acf":[],"yoast_head":"\nLGMD RESEARCHER: H. Criss Hartzell - LGMD Awareness Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.lgmd-info.org\/tr\/lgmd2l\/2019\/04\/24\/lgmd-researcher-hartzell\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD RESEARCHER: H. 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