{"id":1737,"date":"2018-03-04T18:32:55","date_gmt":"2018-03-05T00:32:55","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=1737"},"modified":"2018-03-04T18:32:55","modified_gmt":"2018-03-05T00:32:55","slug":"1737","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pt\/researcher-interview\/2018\/03\/04\/1737\/","title":{"rendered":"INVESTIGADORA LGMD: Louise Rodino-Klapac, Ph.D"},"content":{"rendered":"

LGMD \"Entrevista em destaque sobre pesquisa\" <\/strong><\/span><\/h2>\n

Investigador LGMD:<\/strong> Louise Rodino-Klapac, Ph.D\"\"<\/a><\/p>\n

Filia\u00e7\u00e3o:\u00a0 <\/strong>Nationwide Children's Hospital e Myonexus Therapeutics, Inc.<\/p>\n

Fun\u00e7\u00e3o ou cargo<\/strong>: Professor Associado (NCH) e Diretor Cient\u00edfico (Myonexus)<\/p>\n

 <\/p>\n

 <\/p>\n

Que educa\u00e7\u00e3o e forma\u00e7\u00e3o teve para chegar \u00e0 sua posi\u00e7\u00e3o atual?<\/strong><\/p>\n

Tenho um doutoramento em gen\u00e9tica molecular que estuda o desenvolvimento neuromuscular. Depois fiz uma bolsa de p\u00f3s-doutoramento em terapia gen\u00e9tica no hospital pedi\u00e1trico nacional, tendo Jerry Mendell como mentor.<\/p>\n

O que o levou a seguir uma carreira de investiga\u00e7\u00e3o e a estudar a distrofia muscular em particular?<\/strong><\/p>\n

Desde muito cedo que soube que queria ser investigador. Fascinava-me a gen\u00e9tica e a forma como os genes defeituosos podiam causar doen\u00e7as. Estudei o desenvolvimento neuromuscular no meu trabalho de licenciatura e estava interessada em aproveitar esse conhecimento para desenvolver tratamentos para doen\u00e7as musculares. Felizmente, a investiga\u00e7\u00e3o da distrofia muscular \u00e9 uma \u00e1rea de destaque no Nationwide Children's, o que me d\u00e1 a oportunidade de atingir os meus objectivos.<\/p>\n

Que temas est\u00e3o a estudar?<\/strong><\/p>\n

Desenvolvo tratamentos de terapia g\u00e9nica para a Distrofia Muscular de Duchenne e de Cinturas M\u00faltiplas e transponho esses tratamentos para ensaios cl\u00ednicos. O meu laborat\u00f3rio tamb\u00e9m estuda os mecanismos de doen\u00e7a das distrofias musculares da cintura escapular.<\/p>\n

Como \u00e9 que o seu trabalho vai ajudar os doentes? \u00c9 de natureza mais cient\u00edfica ou poder\u00e1 tornar-se um tratamento para as LGMD ou para os m\u00e9dicos em geral?<\/strong><\/p>\n

O nosso trabalho \u00e9 diretamente aplic\u00e1vel aos doentes. Temos ensaios cl\u00ednicos em curso ou iminentes para v\u00e1rias formas de LGMD (2B, 2D, 2E) e estamos a planear estudos cl\u00ednicos para outros subtipos. Estamos muito optimistas quanto ao facto de a substitui\u00e7\u00e3o gen\u00e9tica vir a ser um tratamento significativo para as DM.<\/p>\n

O que gostaria que os doentes e outras pessoas interessadas na LGMD soubessem sobre a investiga\u00e7\u00e3o (os seus pr\u00f3prios projectos e a \u00e1rea em geral)?<\/strong><\/p>\n

\u00c9 uma altura muito excitante para a investiga\u00e7\u00e3o da LGMD. As melhorias nos testes gen\u00e9ticos e os sucessos na terapia gen\u00e9tica noutras doen\u00e7as neuromusculares aceleraram a investiga\u00e7\u00e3o e os ensaios cl\u00ednicos para a LGMD. Podemos aplicar rapidamente o que aprendemos com o estudo de uma forma de LGMD a outra.<\/p>\n

O que o inspira a continuar a trabalhar neste dom\u00ednio? <\/strong><\/p>\n

Os doentes s\u00e3o a minha maior inspira\u00e7\u00e3o. \u00c9 t\u00e3o gratificante saber que todo o trabalho \u00e1rduo que estamos a fazer para trazer tratamentos para a cl\u00ednica ir\u00e1, assim o espero, beneficiar os doentes de uma forma muito significativa!<\/p>\n

Como \u00e9 que os doentes o podem encorajar e ajudar no seu trabalho?<\/strong><\/p>\n

Ouvir hist\u00f3rias de doentes (tanto hist\u00f3rias de esperan\u00e7a como de desafios) \u00e9 extremamente \u00fatil. Ajuda-nos, enquanto investigadores, a conhecer os desafios pr\u00f3prios de cada doen\u00e7a espec\u00edfica para adaptar os tratamentos, se poss\u00edvel. Al\u00e9m disso, \u00e9 uma fonte constante de motiva\u00e7\u00e3o para continuar a trabalhar arduamente, sabendo que h\u00e1 uma enorme equipa de apoiantes a apoiar-nos!<\/p>","protected":false},"excerpt":{"rendered":"

LGMD “Spotlight Interview on Research\u201d LGMD Researcher: Louise Rodino-Klapac, Ph.D […]<\/p>","protected":false},"author":1,"featured_media":1735,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,92],"tags":[],"class_list":["post-1737","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-researcher"],"acf":[],"yoast_head":"\nLGMD RESEARCHER: Louise Rodino-Klapac, Ph.D - 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=\"http:\/\/www.lgmd-info.org\/pt\/researcher-interview\/2018\/03\/04\/1737\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD RESEARCHER: Louise Rodino-Klapac, Ph.D - 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