{"id":66745,"date":"2023-04-26T14:32:58","date_gmt":"2023-04-26T14:32:58","guid":{"rendered":"https:\/\/blog.cofb.cat\/?p=66745"},"modified":"2023-07-27T08:50:27","modified_gmt":"2023-07-27T08:50:27","slug":"els-avencos-de-la-farmacogenetica-tema-central-de-la-darrera-tertulia-dactualitat-2","status":"publish","type":"post","link":"https:\/\/www.cofb.org\/es\/2023\/04\/26\/els-avencos-de-la-farmacogenetica-tema-central-de-la-darrera-tertulia-dactualitat-2\/","title":{"rendered":"Los avances de la farmacogen\u00e9tica, tema central de la \u00faltima tertulia de actualidad"},"content":{"rendered":"<p>El pasado 12 de abril, el <strong>Col\u00b7legi de Farmac\u00e8utics de Barcelona (COFB)<\/strong> organiz\u00f3 <strong>la tertulia de actualidad \u201cAvances de la farmacogen\u00e9tica en la evoluci\u00f3n de ciertas enfermedades\u201d<\/strong>. La tertulia corri\u00f3 a cargo de <strong>Mireia Olivella<\/strong>, profesora titular de la UVIC-UCC, investigadora del Grupo de investigaci\u00f3n en Bioinform\u00e1tica Estructural y coordinadora del M\u00e1ster in Omics Data Analysis. El vocal de Oficina de Farmacia, <strong>Guillermo Bagar\u00eda<\/strong>, moder\u00f3 la sesi\u00f3n.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/blog.cofb.cat\/wp-content\/uploads\/2023\/04\/COFB_Farmacogenetica_19042023_3-scaled.jpg\" target=\"_blank\" rel=\"noopener\"><img decoding=\"async\" src=\"https:\/\/blog.cofb.cat\/wp-content\/uploads\/2023\/04\/COFB_Farmacogenetica_19042023_3-1024x576.jpg\" alt=\"\" class=\"wp-image-66748\"\/><\/a><\/figure>\n\n\n\n<p>Los <strong>objetivos<\/strong> de la tertulia fueron explicar los \u00faltimos <strong>avances sobre el genoma humano<\/strong>, los <strong>estudios de asociaci\u00f3n de patolog\u00edas <\/strong>en funci\u00f3n del perfil gen\u00e9tico, las <strong>variaciones gen\u00e9ticas<\/strong> que existen en la poblaci\u00f3n y c\u00f3mo pueden afectar en las estrategias terap\u00e9uticas; y, a partir de un <strong>caso cl\u00ednico<\/strong>, <strong>compartir los proyectos de investigaci\u00f3n<\/strong> que se iniciaron para identificar el gen causante de una patolog\u00eda en un paciente, el <strong>dise\u00f1o racional de f\u00e1rmacos utilizando herramientas bioinform\u00e1ticas<\/strong>, <strong>el \u00e9xito de la estrategia terap\u00e9utica<\/strong> y <strong>la extensi\u00f3n de la estrategia terap\u00e9utica a cientos de pacientes<\/strong> en todo el mundo.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Conceptos b\u00e1sicos de la biolog\u00eda molecular<\/strong><\/h2>\n\n\n\n<p>La investigadora, <strong>Mireia Olivella<\/strong>, comenz\u00f3 la tertulia de actualidad haciendo una breve explicaci\u00f3n del <strong>genoma humano<\/strong>. Olivella coment\u00f3 que en la actualidad estamos ante una <strong>revoluci\u00f3n gen\u00f3mica <\/strong>y que somos testigos. Para Olivella &quot;es un privilegio ver c\u00f3mo las cosas est\u00e1n avanzando tan r\u00e1pidamente en la gen\u00f3mica y en todas las \u00f3micas que existen hoy en d\u00eda&quot;.<\/p>\n\n\n\n<p>La profesora explic\u00f3 cu\u00e1l es el <strong>dogma central en biolog\u00eda molecular<\/strong>: \u201ctenemos todo nuestro genoma troceado en 23 pares de cromosomas (46 en total), que contienen toda la informaci\u00f3n gen\u00e9tica que necesitamos. El <strong>dogma central de la biolog\u00eda molecular se encuentra en el DNA<\/strong> que, por transcripci\u00f3n, s\u00f3lo en algunos peque\u00f1os trozos <strong>pasar\u00e1n a mol\u00e9culas de RNA<\/strong> y, algunas de estas, <strong>pasar\u00e1n a prote\u00ednas\u201d<\/strong>. Seg\u00fan comparti\u00f3 \u201c<strong>tenemos 20.000 prote\u00ednas<\/strong>, que son las que <strong>hacen las<\/strong> <strong>funciones dentro de las c\u00e9lulas<\/strong> y, para realizarlas, <strong>ser\u00e1 necesario que tengan una forma o estructura determinada<\/strong>. La <strong>secuencia aminoac\u00eddica<\/strong> dicta c\u00f3mo es la estructura de la prote\u00edna y la estructura de la prote\u00edna dicta la funci\u00f3n de \u00e9sta\u201d.<\/p>\n\n\n\n<figure class=\"wp-block-image alignleft size-large\"><a href=\"https:\/\/blog.cofb.cat\/wp-content\/uploads\/2023\/04\/COFB_Farmacogenetica_19042023_2-scaled.jpg\" target=\"_blank\" rel=\"noopener\"><img decoding=\"async\" src=\"https:\/\/blog.cofb.cat\/wp-content\/uploads\/2023\/04\/COFB_Farmacogenetica_19042023_2-1024x576.jpg\" alt=\"La investigadora, Mireia Olivella, i el vocal d\u2019Oficina de Farm\u00e0cia, Guillermo Bagar\u00eda, en un moment de la tert\u00falia. \" class=\"wp-image-66749\" title=\" La investigadora, Mireia Olivella, y el vocal de Oficina de Farmacia, Guillermo Bagar\u00eda, en un momento de la tertulia. \"\/><\/a><figcaption class=\"wp-element-caption\"> La investigadora, Mireia Olivella, y el vocal de Oficina de Farmacia, Guillermo Bagar\u00eda, en un momento de la tertulia. <\/figcaption><\/figure>\n\n\n\n<p>&nbsp;\u201cEs muy importante tener en cuenta que <strong>no todo lo que vemos en el genoma es lo que acabar\u00e1 pasando<\/strong>, sino que <strong>es lo que potencialmente puede acabar pasando<\/strong>, puesto que las c\u00e9lulas expresar\u00e1n unas prote\u00ednas u otras en funci\u00f3n de diversos factores como: el tipo de tejido, la etapa de la vida, determinadas situaciones de estr\u00e9s, patolog\u00edas, el entorno, entre otros, asegur\u00f3 Olivella .<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>&quot;Estamos ante una revoluci\u00f3n gen\u00f3mica&quot;<\/strong><\/h2>\n\n\n\n<p>Tras repasar los conceptos b\u00e1sicos de la biolog\u00eda molecular, el dogma central, proteoma humano, el Proyecto Genoma Humano y las iniciativas gen\u00f3micas mundiales, la investigadora coment\u00f3 que analizando el <strong>genoma humano<\/strong> se puede ver que contiene unos <strong>40.000 genes<\/strong> (DNA-&gt;RNA), <strong>20.000 genes que codifican para prote\u00edna<\/strong> (DNA-&gt;RNA-&gt;prote\u00edna), \u201cel <strong>DNA que no codifica para prote\u00edna <\/strong>tendr\u00e1 la funci\u00f3n de <strong>regular la expresi\u00f3n g\u00e9nica<\/strong>, <strong>la arquitectura del cromosoma<\/strong> y el <strong>control de la herencia epigen\u00e9tica<\/strong>\u201d.<\/p>\n\n\n\n<p>Durante la exposici\u00f3n, la investigadora mostr\u00f3 los <strong>navegadores gen\u00f3micos<\/strong> y detall\u00f3 las <strong>variaciones del genoma en la poblaci\u00f3n<\/strong> por mutaciones heredadas o mutaciones de novo; las enfermedades monog\u00e9nicas y complejas; las mutaciones som\u00e1ticas; y los datos \u00f3micos en relaci\u00f3n con la medicina de precisi\u00f3n. Seg\u00fan Olivella, con las t\u00e9cnicas que tenemos<strong> podemos obtener, no s\u00f3lo el genoma, sino tambi\u00e9n el transcriptoma, el proteoma, el metaboloma y el microbioma<\/strong>. Con la integraci\u00f3n de estos datos,\u201cse puede conseguir un <strong>perfil de paciente,<\/strong> que despu\u00e9s permitir\u00e1 tener una <strong>estrategia terap\u00e9utica<\/strong> adecuada\u201d.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Hacia la medicina personalizada. Un caso de \u00e9xito<\/strong><\/h2>\n\n\n\n<p>En la \u00faltima parte de la tertulia de actualidad, Mireia Olivella comparti\u00f3 el<strong>estudio de un caso cl\u00ednico real<\/strong>, en el que particip\u00f3. En 2015 apareci\u00f3 un caso cl\u00ednico en el Hospital Sant Joan de D\u00e9u de una <strong>ni\u00f1a de cinco a\u00f1os <\/strong>que \u201cparec\u00eda que ten\u00eda una <strong>enfermedad muy grave<\/strong>\u201d, se trataba de una <strong>discapacidad intelectual, autismo e hipoton\u00eda<\/strong> que no pod\u00edan clasificarlo con ninguna enfermedad, relat\u00f3 la investigadora.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><a href=\"https:\/\/blog.cofb.cat\/wp-content\/uploads\/2023\/04\/COFB_Farmacogenetica_19042023_0-scaled.jpg\" target=\"_blank\" rel=\"noopener\"><img fetchpriority=\"high\" decoding=\"async\" src=\"https:\/\/blog.cofb.cat\/wp-content\/uploads\/2023\/04\/COFB_Farmacogenetica_19042023_0-1024x576.jpg\" alt=\"La professora Mireia Olivella durant la seva exposici\u00f3. \" class=\"wp-image-66775\" width=\"840\" height=\"472\" title=\"La profesora Mireia Olivella durante su exposici\u00f3n. \"\/><\/a><figcaption class=\"wp-element-caption\">La profesora Mireia Olivella durante su exposici\u00f3n. <\/figcaption><\/figure>\n\n\n\n<p>Olivella va <strong>secuenciar el genoma<\/strong> de la ni\u00f1a y detect\u00f3 un<strong> cambio de una letra en uno de los genes<\/strong>, que pod\u00eda ser el responsable de aquella patolog\u00eda, \u201cse trataba de una <strong>mutaci\u00f3n de novo<\/strong>\u201d. Despu\u00e9s de <strong>modelizar el receptor de NMDA<\/strong> y de hacer <strong>simulaciones de din\u00e1mica molecular <\/strong>para observar<strong> la estructura y la forma del receptor<\/strong>, observ\u00f3 que su <strong>receptor ten\u00eda un canal m\u00e1s peque\u00f1o<\/strong> y, por tanto, no hab\u00eda sinapsis glutamat\u00e9rgica. La investigadora comparti\u00f3 el estudio con dos <strong>neurobi\u00f3logos <\/strong>del Hospital Cl\u00ednic de Barcelona para recibir la <strong>validaci\u00f3n experimental<\/strong>. Posteriormente, buscaron una <strong>estrategia terap\u00e9utica<\/strong>, a partir de un f\u00e1rmaco aprobado, que aumentara la funci\u00f3n del NMDA. Tras compartirlo con San Juan de Dios, empezaron a tratar a la paciente con L-serine, que \u201ccomport\u00f3 una <strong>mejora muy importante en la calidad de vida de la ni\u00f1a<\/strong>\u201d, asegur\u00f3 Olivella.<\/p>\n\n\n\n<p>Tras publicar el estudio de este caso cl\u00ednico, el equipo tuvo una <strong>alud de casos y peticiones de todo el mundo <\/strong>para dar respuesta a muchas familias. Construyeron una base de datos en la que hay <strong>4.473 mutaciones de genes<\/strong> y <strong>444 mutaciones<\/strong> <strong>patog\u00e9nicas<\/strong>.<\/p>","protected":false},"excerpt":{"rendered":"<p>El pasado 12 de abril, el Colegio de Farmac\u00e9uticos de Barcelona (COFB) organiz\u00f3 la tertulia de actualidad \u201cAvances de la farmacogen\u00e9tica en la evoluci\u00f3n de ciertas enfermedades\u201d. La tertulia corri\u00f3 a cargo de Mireia Olivella, profesora titular de la UVIC-UCC, investigadora del Grupo de investigaci\u00f3n en Bioinform\u00e1tica Estructural y coordinadora del [\u2026]<\/p>","protected":false},"author":1,"featured_media":67687,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_uag_custom_page_level_css":"","site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[23,57],"tags":[319,18,19,320,68,321,322,54,70,323,324,325,326,327,328,104,140],"class_list":["post-66745","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-destacats","category-mon-collegial","tag-biologia-molecular","tag-cofb","tag-collegi-de-farmaceutics-de-barcelona","tag-estrategia-terapeutica","tag-farmacia","tag-farmacogenetica","tag-farmacogenetica-avancada","tag-farmacs","tag-formacio","tag-genetica","tag-genoma","tag-genoma-huma","tag-gens","tag-grin-team","tag-navegadors-genomics","tag-patologies","tag-tertulia-dactualitat"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Els aven\u00e7os de la farmacogen\u00e8tica, tema central 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