{"id":2240,"date":"2018-09-12T11:02:58","date_gmt":"2018-09-12T16:02:58","guid":{"rendered":"https:\/\/restruct-lgmd-2021.pantheonsite.io\/?p=2240"},"modified":"2018-09-12T11:02:58","modified_gmt":"2018-09-12T16:02:58","slug":"researcher-melissa-spencer","status":"publish","type":"post","link":"https:\/\/www.lgmd-info.org\/pt\/lgmd2a\/2018\/09\/12\/researcher-melissa-spencer\/","title":{"rendered":"INVESTIGADORA LGMD: Melissa Spencer"},"content":{"rendered":"

LGMD \"Entrevista em destaque sobre pesquisa\"<\/p>\n

Investigador LGMD<\/strong>: Melissa Spencer\"\"<\/a><\/p>\n

Filia\u00e7\u00e3o<\/strong>: UCLA Universidade da Calif\u00f3rnia em Los Angeles<\/p>\n

Fun\u00e7\u00e3o ou cargo: <\/strong>\u00a0Professor de Neurologia, Diretor do Programa Neuromuscular, Co-Diretor do Centro para a Distrofia Muscular de Duchenne<\/p>\n

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

N\u00e3o me tinha interessado pelas ci\u00eancias durante o liceu e tinha come\u00e7ado a faculdade como estudante de dan\u00e7a. De facto, s\u00f3 tive uma disciplina de ci\u00eancias no liceu, Fisiologia. Na faculdade, tive uma cadeira de fisiologia geral e fiquei t\u00e3o interessada na mat\u00e9ria que mudei de curso e licenciei-me em cinesiologia, que \u00e9 semelhante \u00e0 fisiologia do exerc\u00edcio. O objetivo inicial era tornar-me fisioterapeuta, mas durante o meu mestrado, fui exposto \u00e0 investiga\u00e7\u00e3o em laborat\u00f3rio e nunca mais a deixei.<\/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

Quando comecei a p\u00f3s-gradua\u00e7\u00e3o, em 1991, estava a trabalhar num problema muito b\u00e1sico, centrado na ci\u00eancia, nomeadamente para compreender o papel das calpa\u00ednas no m\u00fasculo esquel\u00e9tico. Durante esse tempo, assisti por acaso a um semin\u00e1rio sobre a distrofia muscular de Duchenne e essa palestra levou-me a pensar que as calpa\u00ednas poderiam estar envolvidas no processo da doen\u00e7a. Neste caso, a ideia era que as calpa\u00ednas 1 e 2 (que s\u00e3o proteases - prote\u00ednas que comem outras prote\u00ednas) estavam demasiado activas e estavam a mastigar o m\u00fasculo. Mais tarde, quando a muta\u00e7\u00e3o da calpa\u00edna 3 foi identificada como a causa subjacente da LGMD2A, foi intrigante para n\u00f3s porque, neste caso, existe uma redu\u00e7\u00e3o<\/u> na atividade de uma forma particular de calpa\u00edna (calpa\u00edna 3) em oposi\u00e7\u00e3o \u00e0 sobreactividade. Comecei a trabalhar nesta forma de calpa\u00edna quando foi descoberta pela primeira vez como a causa da LGMD2A em 1994.<\/p>\n

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

Estamos a tentar compreender a fun\u00e7\u00e3o biol\u00f3gica normal da calpa\u00edna 3 e a forma como as muta\u00e7\u00f5es no gene da calpa\u00edna 3 conduzem \u00e0 LGMD2A. Esta \u00e9 uma grande quest\u00e3o neste dom\u00ednio. Embora tenhamos adquirido alguma compreens\u00e3o dos diferentes processos de doen\u00e7a a jusante, ainda n\u00e3o compreendemos a fun\u00e7\u00e3o biol\u00f3gica espec\u00edfica da calpa\u00edna 3 e, por conseguinte, n\u00e3o podemos compreender completamente porque \u00e9 que as muta\u00e7\u00f5es causam a doen\u00e7a. Atualmente, estamos a concentrar-nos em duas abordagens terap\u00eauticas. Identific\u00e1mos um f\u00e1rmaco que apresenta resultados positivos no modelo de ratinho da LGMD2A e estamos a desenvolver terapias gen\u00e9ticas para a LGMD2A. Tamb\u00e9m test\u00e1mos bloqueadores da miostatina no modelo do rato como parte do nosso financiamento da Coalition to Cure Calpain 3 (C3).<\/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

Realiz\u00e1mos ambos os tipos de estudo: an\u00e1lise da ci\u00eancia b\u00e1sica subjacente \u00e0 doen\u00e7a e outros tipos de estudos que poder\u00e3o traduzir-se em tratamentos mais cedo. Grande parte do que fizemos centrou-se nos processos b\u00e1sicos, uma vez que acredito firmemente que seremos capazes de conceber melhores terapias se compreendermos porque \u00e9 que a doen\u00e7a ocorre em primeiro lugar. Para fazer uma analogia, imagine que tem uma fuga no seu telhado. Podemos tentar usar uma lona para tapar a fuga ou usar baldes para proteger o ch\u00e3o, mas, em \u00faltima an\u00e1lise, se conseguirmos reparar a fuga, os danos na casa ser\u00e3o menores.<\/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

Gostaria que compreendessem que a investiga\u00e7\u00e3o \u00e9 lenta e meticulosa, mas que, com um investimento de fundos para apoiar a investiga\u00e7\u00e3o, encontraremos tratamentos. Gostaria tamb\u00e9m que os doentes soubessem que temos uma equipa de cientistas fant\u00e1stica e trabalhadora (especialmente os Drs. Irina Kramerova, Natalia Ermolova, Chino Kumagai-Cresse e Jian Liu), que trabalha arduamente para encontrar um tratamento para a LGMD2A.<\/p>\n

Gostaria tamb\u00e9m que compreendessem a import\u00e2ncia de organiza\u00e7\u00f5es como o C3, uma vez que as LGMD s\u00e3o doen\u00e7as raras e a melhor forma de as pequenas funda\u00e7\u00f5es apoiarem o progresso neste campo \u00e9 financiar a investiga\u00e7\u00e3o. O C3, Jordan Boslego, Michele Wrubel e a Dra. Jenn Levy est\u00e3o a fazer um excelente trabalho de apoio \u00e0 comunidade, incluindo o registo, que ser\u00e1 fundamental quando estivermos prontos para iniciar os ensaios cl\u00ednicos.<\/p>\n

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

Os doentes e a esperan\u00e7a.<\/p>\n

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

Inscrever-se no registo de doentes adequado (uma lista de registos LGMD pode ser encontrada aqui): https:\/\/www.lgmd-info.org\/international-lgmd-patient-registries\/<\/a>) e participar em projectos de investiga\u00e7\u00e3o quando estes estiverem dispon\u00edveis. Os projectos de investiga\u00e7\u00e3o, quando recrutados, ser\u00e3o anunciados atrav\u00e9s de registos de doentes e em www.clinicaltrials.gov<\/a>.<\/p>\n

 <\/p>\n

* Por favor, GOSTEI, COMENTEI e PARTILHEI esta publica\u00e7\u00e3o para ajudar a aumentar a sensibiliza\u00e7\u00e3o para a LGMD!<\/p>\n

* Para saber mais sobre a Distrofia Muscular das Cinturas dos Membros (LGMD) ou para ler mais \"Entrevistas em Destaque\", visite o nosso s\u00edtio Web em https:\/\/www.lgmd-info.org\/<\/a><\/p>\n

#CureLGMD<\/a>
\n#LgmdDay2018<\/a><\/p>","protected":false},"excerpt":{"rendered":"

LGMD \u201cSpotlight Interview on Research\u201d LGMD Researcher:\u00a0 \u00a0Melissa Spencer Affiliation:\u00a0 […]<\/p>","protected":false},"author":1,"featured_media":2239,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[91,14,92],"tags":[],"class_list":["post-2240","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-researcher-interview","category-lgmd2a","category-researcher"],"acf":[],"yoast_head":"\nLGMD RESEARCHER:\u00a0 \u00a0Melissa Spencer - 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\/lgmd2a\/2018\/09\/12\/researcher-melissa-spencer\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"LGMD RESEARCHER:\u00a0 \u00a0Melissa Spencer - 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