{"id":3723,"date":"2020-10-09T09:57:25","date_gmt":"2020-10-09T14:57:25","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=3723"},"modified":"2024-02-09T14:24:28","modified_gmt":"2024-02-09T14:24:28","slug":"lauren-brady","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pl\/clinic-staff\/2020\/10\/09\/lauren-brady\/","title":{"rendered":"PERSONEL KLINIKI LGMD: Lauren Brady"},"content":{"rendered":"
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Personel kliniki LGMD: Lauren Brady<\/strong><\/p>\n

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Przynale\u017cno\u015b\u0107: Szpital Dzieci\u0119cy McMaster, Hamilton, Ontario, Kanada<\/strong><\/p>\n

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Rola lub stanowisko: Doradca genetyczny<\/strong><\/p>\n

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

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Uko\u0144czy\u0142em studia licencjackie na Uniwersytecie McMaster, a nast\u0119pnie uko\u0144czy\u0142em studia magisterskie w zakresie poradnictwa genetycznego w Sarah Lawrence College w stanie Nowy Jork.<\/p>\n

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Co sprawi\u0142o, \u017ce wybra\u0142e\u015b karier\u0119 zwi\u0105zan\u0105 z obs\u0142ug\u0105 pacjent\u00f3w i opiek\u0105 kliniczn\u0105, w szczeg\u00f3lno\u015bci w dystrofii mi\u0119\u015bniowej?<\/strong><\/p>\n

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W moim pierwszym semestrze szko\u0142y doradztwa genetycznego by\u0142 projekt grupowy, w kt\u00f3rym otrzymali\u015bmy scenariusz spotkania w celu ujawnienia wynik\u00f3w. Scenariusz naszej grupy polega\u0142 na ujawnieniu pozytywnego wyniku genetycznego dla dystrofii mi\u0119\u015bniowej Beckera 19-letniemu m\u0119\u017cczy\u017anie o imieniu Felix, kt\u00f3ry uwielbia\u0142 gra\u0107 w koszyk\u00f3wk\u0119. Moim zadaniem w ramach projektu badawczego by\u0142o zbadanie klinicznej\/naturalnej historii BMD. Nie dowiedzieli\u015bmy si\u0119 jeszcze zbyt wiele o BMD ani \u017cadnej z LGMD - ale uzna\u0142em je za bardzo interesuj\u0105ce i sp\u0119dzi\u0142em du\u017co czasu poza projektem grupowym, czytaj\u0105c, badaj\u0105c i ucz\u0105c si\u0119. To zainteresowanie sk\u0142oni\u0142o mnie do zwr\u00f3cenia si\u0119 do specjalisty nerwowo-mi\u0119\u015bniowego dr Marka Tarnopolskiego jako promotora pracy dyplomowej. W tym czasie w klinice nie by\u0142o doradcy genetycznego (ale istnia\u0142o wyra\u017ane zapotrzebowanie na niego). Dobrze pasowa\u0142em do reszty zespo\u0142u nerwowo-mi\u0119\u015bniowego i mia\u0142em szcz\u0119\u015bcie, \u017ce zosta\u0142em tam zatrudniony po uko\u0144czeniu studi\u00f3w - i nadal tu jestem 8 lat p\u00f3\u017aniej!<\/p>\n

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W jakich obszarach wsparcia kliniki lub opieki nad pacjentem jeste\u015b najbardziej zaanga\u017cowany?<\/strong><\/p>\n

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Jestem najbardziej zaanga\u017cowany w cz\u0119\u015b\u0107 diagnostyczn\u0105 opieki nad pacjentem - koordynowanie test\u00f3w genetycznych, interpretacj\u0119 wynik\u00f3w test\u00f3w genetycznych, wyja\u015bnianie wynik\u00f3w test\u00f3w genetycznych i organizowanie test\u00f3w innych cz\u0142onk\u00f3w rodziny w razie potrzeby. Anga\u017cuj\u0119 si\u0119 r\u00f3wnie\u017c, gdy osoba z MD (lub cz\u0142onkowie rodziny) my\u015bl\u0105 o posiadaniu dzieci i chc\u0105 om\u00f3wi\u0107 testy na nosicielstwo dla swojego partnera lub dla obecnej \/ przysz\u0142ej ci\u0105\u017cy.<\/p>\n

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W jaki spos\u00f3b Twoja praca pomaga pacjentom? Co najbardziej Ci\u0119 pasjonuje i ekscytuje w zwi\u0105zku z przysz\u0142o\u015bci\u0105 opieki nad pacjentami LGMD?<\/strong><\/p>\n

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Podobnie jak wi\u0119kszo\u015b\u0107 ludzi w tej dziedzinie, jestem podekscytowany mo\u017cliwo\u015bci\u0105 ukierunkowanego i skutecznego leczenia. Jako genetyczny nerd, jestem naprawd\u0119 pasjonatem odkrywania nowych gen\u00f3w MD i wykorzystywania nowych technologii genetycznych\/multi-omicznych do znajdowania wariant\u00f3w genetycznych, kt\u00f3re nie s\u0105 wychwytywane przez obecne testy. Poniewa\u017c wiele nadchodz\u0105cych terapii koncentruje si\u0119 na jednym podtypie MD, uwa\u017cam, \u017ce wa\u017cne jest, aby spr\u00f3bowa\u0107 uzyska\u0107 ostateczn\u0105 diagnoz\u0119 molekularn\u0105. Trudno jest inwestowa\u0107 w leczenie, je\u015bli nie znasz mechanizmu choroby, poniewa\u017c nie znasz przyczyny genetycznej.<\/p>\n

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Co chcia\u0142by\u015b, aby pacjenci i inne osoby zainteresowane LGMD wiedzia\u0142y o klinikach NMD, kt\u00f3re obs\u0142uguj\u0105 pacjent\u00f3w z LGMD?<\/strong><\/p>\n

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Pracowa\u0142em tylko w jednej klinice NMD, wi\u0119c mog\u0119 wypowiada\u0107 si\u0119 tylko na ten temat - ale szczerze m\u00f3wi\u0105c nie jestem pewien. Jeste\u015bmy \u015bwietnym zespo\u0142em, ale jeste\u015bmy tylko grup\u0105 zwyk\u0142ych ludzi.<\/p>\n

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

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Lekarz, z kt\u00f3rym pracuj\u0119, dr Tarnopolsky. jego energia i po\u015bwi\u0119cenie dla ludzi, kt\u00f3rych widzimy w naszej klinice, jest niesko\u0144czona. Nigdy nie spotka\u0142em nikogo tak inteligentnego i pracowitego jak on. Inspiruje nasz zesp\u00f3\u0142 ka\u017cdego dnia.<\/p>\n

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JAKI JEST JEDEN WYJ\u0104TKOWY FAKT O TOBIE, KT\u00d3REGO NIE ZNA WIELE INNYCH OS\u00d3B?<\/strong><\/p>\n

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Uprawiam pole fitness od 6 lat. Wyst\u0119powa\u0142am z du\u017cymi 6-7 calowymi butami i w og\u00f3le!<\/p>\n

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

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Je\u015bli chodzi o testy genetyczne i diagnostyk\u0119, robimy wszystko, co w naszej mocy, korzystaj\u0105c z dost\u0119pnych nam narz\u0119dzi i technologii. Je\u015bli dost\u0119pne b\u0119d\u0105 dalsze badania genetyczne, postaramy si\u0119 Ci\u0119 do nich zapisa\u0107. Je\u015bli dowiesz si\u0119 o jakichkolwiek badaniach przeprowadzaj\u0105cych specjalistyczne testy genetyczne, w kt\u00f3rych chcesz wzi\u0105\u0107 udzia\u0142 - daj nam zna\u0107! Je\u015bli trwa rekrutacja, mo\u017cemy sprawdzi\u0107, czy mo\u017cesz zosta\u0107 zarejestrowany. Uzyskanie wynik\u00f3w mo\u017ce zaj\u0105\u0107 du\u017co czasu i zdajemy sobie spraw\u0119 z tego, jak frustruj\u0105ce jest to do\u015bwiadczenie, ale do\u0142o\u017cymy wszelkich stara\u0144, aby uzyska\u0107 ostateczn\u0105 diagnoz\u0119.<\/p>\n

 <\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":4498,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[105,106],"tags":[],"class_list":["post-3723","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-clinic-staff","category-lgmd-clinic-staff-interviews"],"acf":[],"yoast_head":"\nLGMD CLINIC STAFF: Lauren Brady - 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\/pl\/clinic-staff\/2020\/10\/09\/lauren-brady\/\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD CLINIC STAFF: Lauren Brady - LGMD Awareness Foundation\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.lgmd-info.org\/pl\/clinic-staff\/2020\/10\/09\/lauren-brady\/\" \/>\n<meta property=\"og:site_name\" content=\"LGMD Awareness Foundation\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/LGMDawareness\/\" \/>\n<meta property=\"article:published_time\" content=\"2020-10-09T14:57:25+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-02-09T14:24:28+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2020\/10\/Brady-Lauren.png\" \/>\n\t<meta property=\"og:image:width\" content=\"960\" \/>\n\t<meta property=\"og:image:height\" content=\"720\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"dooley\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@LgmdAwareness\" \/>\n<meta name=\"twitter:site\" content=\"@LgmdAwareness\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"dooley\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"5 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.lgmd-info.org\/ko\/clinic-staff\/2020\/10\/09\/lauren-brady\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.lgmd-info.org\/ko\/clinic-staff\/2020\/10\/09\/lauren-brady\/\"},\"author\":{\"name\":\"dooley\",\"@id\":\"https:\/\/www.lgmd-info.org\/de\/#\/schema\/person\/007755074875959ad5503c1c969678c7\"},\"headline\":\"LGMD CLINIC STAFF: Lauren Brady\",\"datePublished\":\"2020-10-09T14:57:25+00:00\",\"dateModified\":\"2024-02-09T14:24:28+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.lgmd-info.org\/ko\/clinic-staff\/2020\/10\/09\/lauren-brady\/\"},\"wordCount\":968,\"publisher\":{\"@id\":\"https:\/\/www.lgmd-info.org\/de\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.lgmd-info.org\/ko\/clinic-staff\/2020\/10\/09\/lauren-brady\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2020\/10\/Brady-Lauren.png\",\"articleSection\":[\"CLINIC STAFF\",\"LGMD Clinic Staff - 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