{"id":3216,"date":"2020-02-05T12:33:00","date_gmt":"2020-02-05T18:33:00","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=3216"},"modified":"2021-02-19T18:30:53","modified_gmt":"2021-02-19T18:30:53","slug":"lgmd-researcher-dufour","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/tr\/researcher-interview\/2020\/02\/05\/lgmd-researcher-dufour\/","title":{"rendered":"LGMD ARA\u015eTIRMACISI: Antoine Dufour"},"content":{"rendered":"
\"\"<\/figure>\n

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\"LGMD ARA\u015eTIRMAYA I\u015eIK TUTUYOR\"<\/h2>\n

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Ara\u015ft\u0131rmac\u0131: Antoine Dufour<\/p>\n

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Ba\u011fl\u0131l\u0131k: Calgary \u00dcniversitesi<\/p>\n

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Rol veya Pozisyon: Yard\u0131mc\u0131 Do\u00e7ent<\/p>\n

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W<\/strong>\u015fu anki pozisyonunuza gelmek i\u00e7in ne t\u00fcr bir e\u011fitim ve \u00f6\u011fretim ald\u0131n\u0131z?<\/strong><\/p>\n

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Lisans, SUNY Oswego, NY<\/p>\n

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Y\u00fcksek Lisans ve Doktora, Stony Brook \u00dcniversitesi, NY<\/p>\n

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Doktora sonras\u0131 burs, British Columbia \u00dcniversitesi, BC, Kanada<\/p>\n

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

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2 sebep:<\/p>\n

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1- Proteazlar olarak adland\u0131r\u0131lan molek\u00fcler makaslar \u00fczerinde \u00e7al\u0131\u015f\u0131yorum ve bunlar\u0131n ya\u015fam\u0131n her alan\u0131nda, biyolojik i\u015flevlerde ve \u00e7e\u015fitli kas distrofilerinde bir\u00e7ok i\u015flevi vard\u0131r. Limb-Girdle Muscular Dystrophy tip 2A (LGMD2A), Calpain-3 olarak adland\u0131r\u0131lan bir proteaz\u0131n mutasyonundan kaynaklan\u0131r. Kas biyolojisindeki i\u015flevlerini daha iyi anlamak i\u00e7in \u00e7al\u0131\u015f\u0131yorum.<\/p>\n

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2- B\u00fcy\u00fck kuzenimde Duchenne Musk\u00fcler Distrofi vard\u0131 ve hastal\u0131\u011f\u0131 k\u00f6t\u00fcle\u015ftik\u00e7e art\u0131k yapamad\u0131\u011f\u0131 \u00e7e\u015fitli basit i\u015flerde ona yard\u0131m ederek b\u00fcy\u00fcd\u00fcm. Daha \u00e7ocuktum\/gen\u00e7tim (kuzenim ben 14 ya\u015f\u0131ndayken vefat etti) ama bu durum \u00f6zellikle kariyer se\u00e7imimi belirledi. Her zaman MD'lerdeki kusurlu kas fonksiyonlar\u0131n\u0131 karakterize etmek ve bu hastal\u0131\u011f\u0131n nas\u0131l \u00e7al\u0131\u015ft\u0131\u011f\u0131n\u0131 daha iyi anlamak i\u00e7in bir bilim insan\u0131 olmak istedim. Onlarca y\u0131ll\u0131k ara\u015ft\u0131rmalardan sonra, MD'ler hakk\u0131nda hala bir\u00e7ok gizem var ve ben bunu b\u00fcy\u00fcleyici buluyorum.<\/p>\n

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

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Kas distrofileri, artrit, gastrointestinal hastal\u0131klar ve kanser dahil olmak \u00fczere \u00e7e\u015fitli hastal\u0131klarda proteaz olarak adland\u0131r\u0131lan molek\u00fcler makaslar \u00fczerinde \u00e7al\u0131\u015f\u0131yorum. Binlerce proteini tespit ve takip edebilen yakla\u015f\u0131mlar kullan\u0131yoruz. Bu, hastal\u0131k ko\u015fullar\u0131n\u0131 sistem d\u00fczeyinde g\u00f6rmemizi ve ayn\u0131 anda birden fazla de\u011fi\u015fikli\u011fi izlememizi sa\u011fl\u0131yor. Tekniklerimizi, kusurlu oldu\u011funda do\u011frudan LGMD2A'ya neden olan Calpain-3'\u00fc karakterize etmek i\u00e7in uyguluyoruz.<\/p>\n

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

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\u00c7al\u0131\u015fmalar\u0131m\u0131z bilimsel niteliktedir ve de\u011fi\u015fen, etkilenen ve LGMD'lere neden olan t\u00fcm proteinlerin karakterize edilmesine yard\u0131mc\u0131 olacakt\u0131r. Onlarca y\u0131ll\u0131k ara\u015ft\u0131rmalara ra\u011fmen, MD'ler hakk\u0131nda dar bir anlay\u0131\u015fa sahibiz ve \u00e7al\u0131\u015fmam\u0131z binlerce de\u011fi\u015fikli\u011fi izlemek ve MD'ler ba\u011flam\u0131nda tan\u0131mlanmam\u0131\u015f yeni ila\u00e7 hedeflerini belirlemek i\u00e7in tarafs\u0131z yakla\u015f\u0131mlar sunmaktad\u0131r.<\/p>\n

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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

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\u00c7al\u0131\u015fmalar\u0131m\u0131z tarafs\u0131zd\u0131r, yani LGMD hakk\u0131nda \u00f6nceden tasarlanm\u0131\u015f fikirlerden yola \u00e7\u0131km\u0131yoruz. B\u00fcy\u00fck miktarda veri elde ediyor ve bu \"etkile\u015fimler a\u011f\u0131\" i\u00e7indeki yeni etkile\u015fimleri belirlemek i\u00e7in sonu\u00e7lar\u0131m\u0131z\u0131 entegre ediyoruz. \u00c7al\u0131\u015fmalar\u0131m\u0131z tamamen yeni ke\u015fif yollar\u0131 i\u00e7in potansiyel yarat\u0131yor ve s\u00fcrekli yenili\u011fi te\u015fvik eder<\/a> yinelemeli d\u00f6ng\u00fcler \u00fczerinden. \"Samanl\u0131kta i\u011fne aramak\" i\u00e7in bilimsel ara\u00e7lar geli\u015ftiriyoruz ve LGMD hastalar\u0131nda kas fonksiyonlar\u0131 \u00fczerinde derin etkisi olan h\u00fccrelerdeki k\u00fc\u00e7\u00fck de\u011fi\u015fiklikleri takip etmenin yollar\u0131n\u0131 bulmaya devam edece\u011fiz.<\/p>\n

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

 <\/p>\n

Hen\u00fcz kimsenin bilmedi\u011fi yeni etkile\u015fimler bulman\u0131n ve bu yeni \"yapboz par\u00e7as\u0131n\u0131\" \u015fu anda bildi\u011fimiz bilinen a\u011flara uydurmaya \u00e7al\u0131\u015fman\u0131n heyecan\u0131.<\/p>\n

 <\/p>\n

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

 <\/p>\n

Fark\u0131ndal\u0131\u011f\u0131 art\u0131rmaya ve \u00e7e\u015fitli topluluklara bu hastal\u0131klar\u0131n g\u00fcnl\u00fck ya\u015famlar\u0131n\u0131z\u0131 nas\u0131l etkiledi\u011fini anlatmaya devam edin. Sosyal medya, geni\u015f kitlelere h\u0131zl\u0131 bir \u015fekilde ula\u015fmak i\u00e7in de\u011ferli bir ara\u00e7 olabilir. \u00d6rne\u011fin, ALS (Amyotrofik lateral skleroz) hastal\u0131\u011f\u0131 i\u00e7in fark\u0131ndal\u0131k yaratmaya y\u00f6nelik buz kovas\u0131 meydan okumas\u0131 olduk\u00e7a ba\u015far\u0131l\u0131 oldu. Ara\u015ft\u0131rma i\u00e7in \u00f6nemli miktarda para toplad\u0131 ve genel n\u00fcfusa bu hastal\u0131k hakk\u0131nda e\u011fitim verme f\u0131rsat\u0131 sundu.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":4371,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,92],"tags":[],"class_list":["post-3216","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-researcher"],"acf":[],"yoast_head":"\nLGMD RESEARCHER: Antoine Dufour - 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\/researcher-interview\/2020\/02\/05\/lgmd-researcher-dufour\/\" \/>\n<meta property=\"og:locale\" content=\"tr_TR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD RESEARCHER: Antoine Dufour - 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