{"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\/pt\/clinic-staff\/2020\/10\/09\/lauren-brady\/","title":{"rendered":"EQUIPA DA CL\u00cdNICA LGMD:  Lauren Brady"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1456px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\"><div class=\"wp-block-image\"><img decoding=\"async\" class=\"lazyload wp-image-3724 alignright\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%27http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%27%20width%3D%27300%27%20height%3D%27225%27%20viewBox%3D%270%200%20300%20225%27%3E%3Crect%20width%3D%27300%27%20height%3D%27225%27%20fill-opacity%3D%220%22%2F%3E%3C%2Fsvg%3E\" data-orig-src=\"https:\/\/www.lgmd-info.org\/wp-content\/uploads\/2020\/10\/Brady-Lauren-300x225.png\" alt=\"\" \/><\/div>\n<p>&nbsp;<\/p>\n<p><strong>Pessoal da Cl\u00ednica LGMD:       Lauren Brady<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Filia\u00e7\u00e3o:     McMaster Children's Hospital, Hamilton, Ont\u00e1rio, Canad\u00e1<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Fun\u00e7\u00e3o ou cargo:        Conselheiro gen\u00e9tico<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p><strong>Que educa\u00e7\u00e3o e forma\u00e7\u00e3o teve para chegar \u00e0 sua posi\u00e7\u00e3o atual?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>Conclu\u00ed a minha licenciatura na Universidade McMaster e depois terminei o meu mestrado em aconselhamento gen\u00e9tico no Sarah Lawrence College, no estado de Nova Iorque.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>O que o levou a seguir uma carreira nos servi\u00e7os aos doentes e nos cuidados cl\u00ednicos, em particular na distrofia muscular?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>No meu primeiro semestre de aconselhamento gen\u00e9tico, houve um projeto de grupo em que nos foi dado um cen\u00e1rio para uma consulta de divulga\u00e7\u00e3o de resultados. O cen\u00e1rio do nosso grupo era revelar um resultado gen\u00e9tico positivo para a distrofia muscular de Becker a um homem de 19 anos chamado Felix, que adorava jogar basquetebol. A minha tarefa no projeto de investiga\u00e7\u00e3o era pesquisar a hist\u00f3ria cl\u00ednica\/natural da DMO. Ainda n\u00e3o t\u00ednhamos aprendido muito sobre a DMO ou qualquer uma das LGMD - mas achei-as muito interessantes e passei muito tempo para al\u00e9m do projeto de grupo a fazer a minha pr\u00f3pria leitura, investiga\u00e7\u00e3o e aprendizagem. Este interesse levou-me a abordar o especialista neuromuscular Dr. Mark Tarnopolsky como orientador da tese. Na altura, n\u00e3o havia nenhum conselheiro gen\u00e9tico na cl\u00ednica (mas havia uma clara necessidade de um). Adaptei-me bem ao resto da equipa neuromuscular e tive a sorte de ser contratado ap\u00f3s a licenciatura - e ainda aqui estou 8 anos depois!<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Em que \u00e1reas do apoio cl\u00ednico ou dos cuidados aos doentes est\u00e1 mais envolvido?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>Estou mais envolvida na parte de diagn\u00f3stico dos cuidados ao doente - coordenar os testes gen\u00e9ticos, interpretar os resultados dos testes gen\u00e9ticos, explicar os resultados dos testes gen\u00e9ticos e organizar os testes de outros membros da fam\u00edlia, se necess\u00e1rio. Tamb\u00e9m me envolvo quando o indiv\u00edduo com DM (ou qualquer membro da fam\u00edlia) est\u00e1 a pensar em ter filhos e quer discutir o teste de portador para o seu parceiro ou para uma gravidez atual\/futura.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Como \u00e9 que o seu trabalho ajuda os pacientes? O que mais o apaixona e o entusiasma em rela\u00e7\u00e3o ao futuro do LGMD Patient Care?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>Tal como a maioria das pessoas neste dom\u00ednio, fico entusiasmado com a possibilidade de tratamentos espec\u00edficos e eficazes. Como nerd da gen\u00e9tica, estou realmente apaixonada pela descoberta de novos genes da DM e pela utiliza\u00e7\u00e3o de novas tecnologias gen\u00e9ticas\/multi\u00f3micas para encontrar variantes gen\u00e9ticas n\u00e3o detectadas pelos testes actuais. Uma vez que muitas das terapias futuras se centram num \u00fanico subtipo de DM, penso que \u00e9 importante tentar obter um diagn\u00f3stico molecular definitivo. \u00c9 dif\u00edcil investir em tratamentos se n\u00e3o se conhecer o mecanismo da doen\u00e7a porque n\u00e3o se conhece a causa gen\u00e9tica.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>O que gostaria que os doentes e outros interessados em LGMD soubessem sobre as cl\u00ednicas NMD que servem doentes com LGMD?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>S\u00f3 trabalhei numa cl\u00ednica NMD, por isso s\u00f3 posso falar sobre isso - mas, sinceramente, n\u00e3o tenho a certeza. Somos uma grande equipa, mas somos apenas um grupo de pessoas normais.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>O que o inspira a continuar a trabalhar neste dom\u00ednio?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>O m\u00e9dico com quem trabalho, o Dr. Tarnopolsky. A sua energia e dedica\u00e7\u00e3o \u00e0s pessoas que vemos na nossa cl\u00ednica s\u00e3o infinitas. Nunca conheci ningu\u00e9m t\u00e3o inteligente e trabalhador como ele. Inspira a nossa equipa todos os dias.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>QUAL \u00c9 UM FACTO \u00daNICO SOBRE SI QUE MUITAS OUTRAS PESSOAS N\u00c3O SABEM?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>H\u00e1 6 anos que pratico pole fitness. J\u00e1 fiz espect\u00e1culos com as botas grandes de 6-7 polegadas e tudo!<\/p>\n<p>&nbsp;<\/p>\n<p><strong>Como \u00e9 que os doentes o podem encorajar e ajudar no seu trabalho?<\/strong><\/p>\n<p>&nbsp;<\/p>\n<p>Quando se trata de testes e diagn\u00f3sticos gen\u00e9ticos, fazemos o melhor que podemos com as ferramentas e a tecnologia que temos \u00e0 nossa disposi\u00e7\u00e3o. Se houver mais estudos de investiga\u00e7\u00e3o de testes gen\u00e9ticos dispon\u00edveis, tentaremos inscrev\u00ea-lo. Se souber de algum estudo de investiga\u00e7\u00e3o de testes gen\u00e9ticos especializados em que queira participar, informe-nos! Se estiverem a ser recrutados, podemos ver se pode ser inscrito. Pode demorar muito tempo a obter estes resultados e n\u00f3s compreendemos como \u00e9 frustrante, mas vamos fazer o nosso melhor para obter o diagn\u00f3stico final.<\/p>\n<p>&nbsp;<\/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":"<!-- This site is optimized with the Yoast SEO plugin v23.9 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>LGMD 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\/pt\/clinic-staff\/2020\/10\/09\/lauren-brady\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD CLINIC STAFF: Lauren Brady - 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