{"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\/ca\/2023\/04\/26\/els-avencos-de-la-farmacogenetica-tema-central-de-la-darrera-tertulia-dactualitat-2\/","title":{"rendered":"Els aven\u00e7os de la farmacogen\u00e8tica, tema central de la darrera tert\u00falia d’actualitat"},"content":{"rendered":"\n

El passat 12 d\u2019abril, el Col\u00b7legi de Farmac\u00e8utics de Barcelona (COFB)<\/strong> va organitzar la tert\u00falia d\u2019actualitat \u201cAven\u00e7os de la farmacogen\u00e8tica en l\u2019evoluci\u00f3 de certes malalties\u201d<\/strong>. La tert\u00falia va anar a c\u00e0rrec de Mireia Olivella<\/strong>, professora titular de la UVIC-UCC, investigadora del Grup de recerca en Bioinform\u00e0tica Estructural i coordinadora del M\u00e0ster in Omics Data Analysis. El vocal d\u2019Oficina de Farm\u00e0cia, Guillermo Bagar\u00eda<\/strong>, va moderar la sessi\u00f3.<\/p>\n\n\n\n

\"\"<\/a><\/figure>\n\n\n\n

Els objectius<\/strong> de la tert\u00falia van ser explicar els darrers aven\u00e7os sobre el genoma hum\u00e0<\/strong>, els estudis d\u2019associaci\u00f3 de patologies <\/strong>en funci\u00f3 del perfil gen\u00e8tic, les variacions gen\u00e8tiques<\/strong> que hi ha en la poblaci\u00f3 i com poden afectar en les estrat\u00e8gies terap\u00e8utiques; i, a partir d\u2019un cas cl\u00ednic<\/strong>, compartir els projectes de recerca<\/strong> que es van iniciar per identificar el gen causant d\u2019una patologia en un pacient, el disseny racional de f\u00e0rmacs utilitzant eines bioinform\u00e0tiques<\/strong>, l\u2019\u00e8xit de l\u2019estrat\u00e8gia terap\u00e8utica<\/strong> i l\u2019extensi\u00f3 de l\u2019estrat\u00e8gia terap\u00e8utica a centenars de pacients<\/strong> arreu del m\u00f3n.<\/p>\n\n\n\n

Conceptes b\u00e0sics de la biologia molecular<\/strong><\/h2>\n\n\n\n

La investigadora, Mireia Olivella<\/strong>, va comen\u00e7ar la tert\u00falia d\u2019actualitat fent una breu explicaci\u00f3 del genoma hum\u00e0<\/strong>. Olivella va comentar que en l\u2019actualitat estem davant d\u2019una revoluci\u00f3 gen\u00f2mica <\/strong>i que en som testimonis. Per a Olivella \u201c\u00e9s un privilegi veure com les coses estan avan\u00e7ant tan r\u00e0pidament en la gen\u00f2mica i en totes les \u00f2miques que existeixen avui en dia\u201d.<\/p>\n\n\n\n

La professora va explicar quin \u00e9s el dogma central en biologia molecular<\/strong>: \u201ctenim tot el nostre genoma trossejat en 23 parells de cromosomes (46 en total), que contenen tota la informaci\u00f3 gen\u00e8tica que necessitem. El dogma central de la biologia molecular es troba en el DNA<\/strong> que, per transcripci\u00f3, nom\u00e9s en alguns petits trossos passaran a mol\u00e8cules d\u2019RNA<\/strong> i, algunes d\u2019aquestes, passaran a prote\u00efnes\u201d<\/strong>. Segons va compartir \u201ctenim 20.000 prote\u00efnes<\/strong>, que s\u00f3n les que fan les<\/strong> funcions dins les c\u00e8l\u00b7lules<\/strong> i, per realitzar-les, caldr\u00e0 que tinguin una forma o estructura determinada<\/strong>. La seq\u00fc\u00e8ncia aminoac\u00eddica<\/strong> dicta com \u00e9s l\u2019estructura de la prote\u00efna i l\u2019estructura de la prote\u00efna dicta la funci\u00f3 d\u2019aquesta\u201d.<\/p>\n\n\n\n

\"La<\/a>
La investigadora, Mireia Olivella, i el vocal d\u2019Oficina de Farm\u00e0cia, Guillermo Bagar\u00eda, en un moment de la tert\u00falia. <\/figcaption><\/figure>\n\n\n\n

 \u201c\u00c9s molt important tenir en compte que no tot el que veiem en el genoma \u00e9s el que acabar\u00e0 passant<\/strong>, sin\u00f3 que \u00e9s el que potencialment pot acabar passant<\/strong>, ja que les c\u00e8l\u00b7lules expressaran unes prote\u00efnes o unes altres en funci\u00f3 de diversos factors com: el tipus de teixit, l\u2019etapa de la vida, determinades situacions d\u2019estr\u00e8s, patologies, l\u2019entorn, entre altres, va assegurar Olivella.<\/p>\n\n\n\n

\u201cEstem davant d\u2019una revoluci\u00f3 gen\u00f2mica\u201d<\/strong><\/h2>\n\n\n\n

Despr\u00e9s de repassar els conceptes b\u00e0sics de la biologia molecular, el dogma central, proteoma hum\u00e0, el Projecte Genoma Hum\u00e0 i les iniciatives gen\u00f2miques mundials, la investigadora va comentar que analitzant el genoma hum\u00e0<\/strong> es pot veure que cont\u00e9 uns 40.000 gens<\/strong> (DNA->RNA), 20.000 gens que codifiquen per a prote\u00efna<\/strong> (DNA->RNA->prote\u00efna), \u201cel DNA que no codifica per a prote\u00efna <\/strong>tindr\u00e0 la funci\u00f3 de regular l\u2019expressi\u00f3 g\u00e8nica<\/strong>, l\u2019arquitectura del cromosoma<\/strong> i el control de l\u2019her\u00e8ncia epigen\u00e8tica<\/strong>\u201d.<\/p>\n\n\n\n

Durant l\u2019exposici\u00f3, la investigadora va mostrar els navegadors gen\u00f2mics<\/strong> i va detallar les variacions del genoma en la poblaci\u00f3<\/strong> per mutacions heretades o mutacions de novo; les malalties monog\u00e8niques i complexes; les mutacions som\u00e0tiques; i les dades \u00f2miques en relaci\u00f3 amb la medicina de precisi\u00f3. Segons Olivella, amb les t\u00e8cniques que tenim podem obtenir, no nom\u00e9s el genoma, sin\u00f3 tamb\u00e9 el transcriptoma, el proteoma, el metaboloma i el microbioma<\/strong>. Amb la integraci\u00f3 d\u2019aquestes dades,\u201ces pot aconseguir un perfil de pacient,<\/strong> que despr\u00e9s permetr\u00e0 tenir una estrat\u00e8gia terap\u00e8utica<\/strong> adequada\u201d.<\/p>\n\n\n\n

Cap a la medicina personalitzada. Un cas d’\u00e8xit<\/strong><\/h2>\n\n\n\n

En la darrera part de la tert\u00falia d\u2019actualitat, Mireia Olivella va compartir l\u2019estudi d\u2019un cas cl\u00ednic real<\/strong>, en el qual va participar. L\u2019any 2015 va apar\u00e8ixer un cas cl\u00ednic a l\u2019Hospital Sant Joan de D\u00e9u d\u2019una nena de cinc anys <\/strong>que \u201csemblava que tenia una malaltia molt greu<\/strong>\u201d, es tractava d\u2019una discapacitat intel\u00b7lectual, autisme i hipotonia<\/strong> que no podien classificar-ho amb cap malaltia, va relatar la investigadora.<\/p>\n\n\n\n

\"La<\/a>
La professora Mireia Olivella durant la seva exposici\u00f3. <\/figcaption><\/figure>\n\n\n\n

Olivella va seq\u00fcenciar el genoma<\/strong> de la nena i va detectar un canvi d\u2019una lletra en un dels gens<\/strong>, que podia ser el responsable d\u2019aquella patologia, \u201ces tractava d\u2019una mutaci\u00f3 de novo<\/strong>\u201d. Despr\u00e9s de modelitzar el receptor de NMDA<\/strong> i de fer simulacions de din\u00e0mica molecular <\/strong>per observar l\u2019estructura i la forma del receptor<\/strong>, va observar que el seu receptor tenia un canal m\u00e9s petit<\/strong> i, per tant, no hi havia sinapsi glutamat\u00e8rgica. La investigadora va compartir l’estudi amb dos neurobi\u00f2legs <\/strong>de l\u2019Hospital Cl\u00ednic de Barcelona per rebre la validaci\u00f3 experimental<\/strong>. Posteriorment, van cercar una estrat\u00e8gia terap\u00e8utica<\/strong>, a partir d\u2019un f\u00e0rmac aprovat, que augment\u00e9s la funci\u00f3 del NMDA. Despr\u00e9s de compartir-ho amb Sant Joan de D\u00e9u, van comen\u00e7ar a tractar a la pacient amb L-serine, que va \u201ccomportar una millora molt important en la qualitat de vida de la nena<\/strong>\u201d, va assegurar Olivella.<\/p>\n\n\n\n

Despr\u00e9s de publicar l\u2019estudi d\u2019aquest cas cl\u00ednic, l’equip va tenir una allau de casos i peticions d\u2019arreu del m\u00f3n <\/strong>per donar resposta a moltes fam\u00edlies. Van construir una base de dades en la qual hi ha 4.473 mutacions de gens<\/strong> i 444 mutacions<\/strong> patog\u00e8niques<\/strong>.<\/p>\n","protected":false},"excerpt":{"rendered":"

El passat 12 d\u2019abril, el Col\u00b7legi de Farmac\u00e8utics de Barcelona (COFB) va organitzar la tert\u00falia d\u2019actualitat \u201cAven\u00e7os de la farmacogen\u00e8tica en l\u2019evoluci\u00f3 de certes malalties\u201d. La tert\u00falia va anar a c\u00e0rrec de Mireia Olivella, professora titular de la UVIC-UCC, investigadora del Grup de recerca en Bioinform\u00e0tica Estructural i coordinadora del […]<\/p>\n","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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