{"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\/pl\/lgmd2l\/2019\/04\/24\/lgmd-researcher-hartzell\/","title":{"rendered":"BADACZ LGMD: H. Criss Hartzell"},"content":{"rendered":"
\"\"<\/figure>\n

\"LGMD SPOTLIGHT ON RESEARCH\"<\/strong><\/p>\n

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

Przynale\u017cno\u015b\u0107:\u00a0 <\/strong>Emory University School of Medicine<\/p>\n

Rola lub stanowisko:\u00a0 <\/strong>Profesor<\/p>\n

Jakie wykszta\u0142cenie i szkolenie zdoby\u0142e\u015b, aby osi\u0105gn\u0105\u0107 obecne stanowisko?<\/strong><\/p>\n

B.A. Lawrence University, kierunek chemia i biologia<\/p>\n

Doktor nauk biologicznych na Uniwersytecie Johnsa Hopkinsa.<\/p>\n

Badania podoktoranckie na Wydziale Neurobiologii Harvard Medical School<\/p>\n

Co sprawi\u0142o, \u017ce zdecydowa\u0142e\u015b si\u0119 na karier\u0119 naukow\u0105, a w szczeg\u00f3lno\u015bci na badanie dystrofii mi\u0119\u015bniowej?<\/strong><\/p>\n

Odk\u0105d pami\u0119tam, zawsze interesowa\u0142em si\u0119 nauk\u0105. W college'u przeczyta\u0142em artyku\u0142 w Scientific American na temat teorii mostka poprzecznego skurczu mi\u0119\u015bni i zafascynowa\u0142 mnie pomys\u0142, \u017ce mi\u0119\u015bnie s\u0105 w zasadzie maszyn\u0105 molekularn\u0105. Moja praca doktorska dotyczy\u0142a receptor\u00f3w acetylocholiny na z\u0142\u0105czu nerwowo-mi\u0119\u015bniowym i doprowadzi\u0142a do odkrycia, \u017ce liczba receptor\u00f3w acetylocholiny na z\u0142\u0105czu nerwowo-mi\u0119\u015bniowym jest zmniejszona w miastenii. By\u0142em stypendyst\u0105 stowarzyszenia dystrofii mi\u0119\u015bniowej jako postdoc na Harvardzie.<\/p>\n

Jakie tematy studiujesz?<\/strong><\/p>\n

\u00a0Badamy bia\u0142ko ANO5. Mutacje ANO5 s\u0105 4th<\/sup> Najcz\u0119stsza \"przyczyna\" LGMD, ale prawie nic nie wiadomo o tym, co robi ANO5 i jak dzia\u0142a. Uwa\u017camy, \u017ce bierze ona udzia\u0142 w naprawie b\u0142on mi\u0119\u015bniowych. Badamy ten problem na poziomie kom\u00f3rkowym i molekularnym.<\/p>\n

W jaki spos\u00f3b Twoja praca pomo\u017ce pacjentom? Czy ma ona bardziej naukowy charakter, czy te\u017c mo\u017ce sta\u0107 si\u0119 metod\u0105 leczenia LGMD?<\/strong>lub MD<\/strong>w og\u00f3le?<\/strong><\/p>\n

Wierzymy, \u017ce zrozumienie podstawowej biologii molekularnej i kom\u00f3rkowej ANO5 jest warunkiem wst\u0119pnym do opracowania terapii dla tej formy LGMD (2L). Uwa\u017camy r\u00f3wnie\u017c, \u017ce wgl\u0105d w to, jak zachodzi naprawa b\u0142ony mi\u0119\u015bniowej, dostarczy nowych wskaz\u00f3wek dotycz\u0105cych terapii innych LGMD.<\/p>\n

Co chcia\u0142by\u015b, aby pacjenci i inne osoby zainteresowane LGMD wiedzia\u0142y o badaniach (Twoich w\u0142asnych projektach i og\u00f3lnie o tej dziedzinie)?<\/strong><\/p>\n

Badania podstawowe s\u0105 frustruj\u0105co powolne, poniewa\u017c zaczynamy od zera i musimy opracowa\u0107 nowe narz\u0119dzia. ale ludzie w moim laboratorium s\u0105 oddani, pracuj\u0105 12 godzin dziennie i rzadko przestaj\u0105 my\u015ble\u0107 i martwi\u0107 si\u0119 o to, jak rozwi\u0105za\u0107 pytania, na kt\u00f3re chcemy odpowiedzie\u0107. doceniamy wsparcie podatnik\u00f3w i darczy\u0144c\u00f3w, kt\u00f3rzy finansuj\u0105 nasze badania.<\/p>\n

Co inspiruje Ci\u0119 do dalszej pracy w tej dziedzinie? <\/strong><\/p>\n

Mam osobowo\u015b\u0107 obsesyjno-kompulsywn\u0105 i nie mog\u0119 spocz\u0105\u0107, dop\u00f3ki nie zrozumiem, jak wszystko dzia\u0142a. Inspiruj\u0105 mnie ludzie cierpi\u0105cy na te dolegliwo\u015bci, kt\u00f3rzy wspieraj\u0105 innych pacjent\u00f3w i pracuj\u0105 nad zjednoczeniem spo\u0142eczno\u015bci LGMD.<\/p>\n

W jaki spos\u00f3b pacjenci mog\u0105 Ci\u0119 zach\u0119ci\u0107 i pom\u00f3c Ci w pracy?<\/strong><\/p>\n

\u00a0Jedn\u0105 z g\u0142\u00f3wnych przeszk\u00f3d, jakie napotykamy w naszych badaniach, jest dost\u0119p do ludzkich tkanek. Chocia\u017c mo\u017cemy si\u0119 wiele nauczy\u0107, korzystaj\u0105c z modeli mysich i hodowli kom\u00f3rkowych, zrozumienie ludzkiej choroby wymaga u\u017cycia ludzkich tkanek. Pacjenci, kt\u00f3rzy s\u0105 gotowi dostarczy\u0107 biopsje i osobiste spostrze\u017cenia na temat post\u0119pu choroby, wnosz\u0105 ogromn\u0105 warto\u015b\u0107 do naszego programu badawczego.<\/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. 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