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

\"LGMD EM DESTAQUE NA INVESTIGA\u00c7\u00c3O\"<\/strong><\/p>\n

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

Filia\u00e7\u00e3o:\u00a0 <\/strong>Faculdade de Medicina da Universidade de Emory<\/p>\n

Fun\u00e7\u00e3o ou cargo:\u00a0 <\/strong>Professor<\/p>\n

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

Licenciatura em Qu\u00edmica e Biologia na Universidade de Lawrence<\/p>\n

Doutoramento em Biologia pela Universidade Johns Hopkins.<\/p>\n

Investiga\u00e7\u00e3o de p\u00f3s-doutoramento no Departamento de Neurobiologia da Harvard Medical School<\/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

Sempre me interessei pela ci\u00eancia, desde que me lembro. Na faculdade, li um artigo cient\u00edfico americano sobre a teoria da ponte cruzada da contra\u00e7\u00e3o muscular e fiquei fascinado com a ideia de que o m\u00fasculo era basicamente uma m\u00e1quina molecular. O meu trabalho de doutoramento estudou os receptores de acetilcolina na jun\u00e7\u00e3o neuromuscular e levou \u00e0 descoberta de que o n\u00famero de receptores de acetilcolina na jun\u00e7\u00e3o neuromuscular estava reduzido na miastenia gravis. Fui bolseiro da associa\u00e7\u00e3o de distrofia muscular como p\u00f3s-doutoramento em Harvard.<\/p>\n

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

\u00a0Estamos a estudar a prote\u00edna ANO5. As muta\u00e7\u00f5es da ANO5 s\u00e3o as 4th<\/sup> A ANO5 \u00e9 a \"causa\" mais comum da LGMD, mas quase nada se sabe sobre o que a ANO5 faz ou como funciona. Acreditamos que est\u00e1 envolvida na repara\u00e7\u00e3o da membrana muscular. Estudamos este problema a n\u00edvel celular e molecular.<\/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 a LGMD?<\/strong>s ou MD<\/strong>s em geral?<\/strong><\/p>\n

Acreditamos que a compreens\u00e3o da biologia molecular e celular b\u00e1sica da ANO5 \u00e9 um pr\u00e9-requisito para o desenvolvimento de terapias para esta forma de LGMD (2L). Consideramos tamb\u00e9m que os conhecimentos que adquirimos sobre a forma como ocorre a repara\u00e7\u00e3o da membrana muscular fornecer\u00e3o novas pistas para as terapias de outras LGMD.<\/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

A investiga\u00e7\u00e3o fundamental \u00e9 frustrantemente lenta porque partimos de um quadro em branco e precisamos de desenvolver novas ferramentas. mas as pessoas do meu laborat\u00f3rio s\u00e3o dedicadas, trabalham 12 horas por dia e raramente param de pensar e de se preocupar com a forma de resolver as quest\u00f5es a que queremos responder. agradecemos o apoio dos contribuintes e dos doadores que financiam a nossa investiga\u00e7\u00e3o.<\/p>\n

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

Tenho uma personalidade obsessiva\/compulsiva e n\u00e3o consigo descansar enquanto n\u00e3o perceber como \u00e9 que as coisas funcionam. Inspiro-me nas pessoas que sofrem destas doen\u00e7as, que apoiam os seus colegas doentes e trabalham para unificar a comunidade LGMD.<\/p>\n

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

\u00a0Um grande obst\u00e1culo que enfrentamos na nossa investiga\u00e7\u00e3o \u00e9 o acesso a tecidos humanos. Embora possamos aprender muito utilizando modelos de ratos e de culturas de c\u00e9lulas, a compreens\u00e3o da doen\u00e7a humana exige a utiliza\u00e7\u00e3o de tecido humano. Os doentes que est\u00e3o dispostos a fornecer bi\u00f3psias e informa\u00e7\u00f5es pessoais sobre a progress\u00e3o da doen\u00e7a acrescentam um enorme valor ao nosso programa de investiga\u00e7\u00e3o.<\/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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