{"id":7070,"date":"2023-01-24T16:34:17","date_gmt":"2023-01-24T15:34:17","guid":{"rendered":"https:\/\/www.ipsi.cat\/elfil\/?p=7070"},"modified":"2023-01-24T16:34:21","modified_gmt":"2023-01-24T15:34:21","slug":"crispr-cas9-per-a-la-cura-de-la-fibrosi-quistica","status":"publish","type":"post","link":"https:\/\/www.ipsi.cat\/elfil\/crispr-cas9-per-a-la-cura-de-la-fibrosi-quistica\/","title":{"rendered":"CRISPR-Cas9 per a la cura de la fibrosi qu\u00edstica"},"content":{"rendered":"\n

El meu treball de recerca tenia una hip\u00f2tesi molt clara: CRISPR-Cas9 pot suposar la cura de la fibrosi qu\u00edstica. A partir d\u2019aquesta hip\u00f2tesi vaig iniciar un proc\u00e9s de recerca i documentaci\u00f3 amb l\u2019objectiu de confirmar o desmentir aquesta afirmaci\u00f3.   <\/p>\n\n\n\n

La fibrosi qu\u00edstica \u00e9s una malaltia de car\u00e0cter gen\u00e8tic hereditari, \u00e9s a dir, es transmet de generaci\u00f3 en generaci\u00f3, per aquest motiu, \u00e9s una de les malalties heredit\u00e0ries que afecta un n\u00famero m\u00e9s elevat d\u2019individus. L\u2019esperan\u00e7a de vida no supera els 40 anys, i la majoria de pacients s\u00f3n infants. \u00c9s una malaltia que afecta principalment els pulmons, ara b\u00e9, tamb\u00e9 pot tenir efectes negatius sobre l\u2019aparell digestiu i l\u2019aparell reproductor. Fonamentalment, causa problemes de respiraci\u00f3, tos excessiva, acumulacions de mucoses en els tubs respiratoris i pot arribar a causar problemes de digesti\u00f3 i infertilitat. En general, \u00e9s una malaltia molt dura tant f\u00edsicament com mentalment, ja que el fet que no tingui una cura definitiva, provoca estr\u00e8s i ansietat a aquells que la pateixen i a aquells que els envolten. Per tot aix\u00f2, em vaig proposar buscar una cura per a la fibrosi qu\u00edstica.<\/p>\n\n\n\n

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

En tractar-se d\u2019una malaltia gen\u00e8tica, vaig voler buscar un tractament que ataques i modifiqu\u00e9s directament el gen afectat, en aquest cas, el gen CFTR. La t\u00e8cnica que jo em vaig proposar investigar rep el nom de CRISPR-Cas9 o \u201ctalla i enganxa gen\u00e8tic<\/a>\u201d, de manera informal. Com b\u00e9 diu el seu nom, aquesta t\u00e8cnica permet eliminar un gen mutat en concret i, posteriorment, introduir la seq\u00fc\u00e8ncia de DNA correcte creada al laboratori. Personalment, em va semblar una t\u00e8cnica molt interessant i amb molt de potencial, per\u00f2 abans d\u2019iniciar el proc\u00e9s de recerca, encara no la coneixia. Per aquest motiu, un altre dels objectius proposats era analitzar la coneixen\u00e7a que tenia la poblaci\u00f3 al respecte, i els resultats van ser els esperats. Un percentatge molt baix dels enquestats coneixien el seu funcionament, per aix\u00f2 crec que \u00e9s molt important la seva divulgaci\u00f3, ja que cada vegada est\u00e0 m\u00e9s present en l’\u00e0mbit m\u00e8dic i de recerca.<\/p>\n\n\n\n

Pel que fa al seu \u00fas per a curar la fibrosi qu\u00edstica, despr\u00e9s de fer una an\u00e0lisi profunda del seu funcionament, vaig observar que s\u00ed que podia suposar-ne la cura. Com que es tracta d\u2019una malaltia que afecta un sol gen, existeix una possibilitat m\u00e9s elevada de qu\u00e8 funcioni. Per tal de corroborar els meus resultats, vaig decidir fer una entrevista a Antoni Castells, director m\u00e8dic de l’Hospital Cl\u00ednic de Barcelona. Antoni Castells diu que la legalitzaci\u00f3 pel seu \u00fas m\u00e8dic seria molt convenient, per\u00f2 que encara s’han de dur a terme diversos assaigs per tal de reduir al m\u00ednim el marge d\u2019error i confirmar-ne la seguretat cl\u00ednica.  <\/p>\n\n\n\n

El proc\u00e9s d\u2019edici\u00f3 gen\u00e8tica \u00e9s un proc\u00e9s complicat, \u00e9s per aix\u00f2 que vaig decidir crear una maqueta que m\u2019ajudes a explicar els diferents passos a seguir d\u2019una manera m\u00e9s visual i entenedora. Va ser dif\u00edcil trobar una manera senzilla de representar-ho, i, finalment, vaig acabar exemplificant nom\u00e9s la primera part del proc\u00e9s, ja que la segona requeria de massa elements. Tot i les petites dificultats que un es pot trobar, penso que \u00e9s de gran ajuda disposar d\u2019aquest suport visual, sobretot si s\u2019est\u00e0 presentant un tema molt t\u00e8cnic o complicat d\u2019entendre. <\/p>\n\n\n\n

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

Aix\u00ed doncs, el meu treball de recerca compta amb una enquesta, una entrevista, una maqueta i una recerca d\u2019informaci\u00f3 molt profunda que em permeten afirmar la hip\u00f2tesis inicial. Ara b\u00e9, \u00e9s important destacar que per evitar que la malaltia es transmeti de generaci\u00f3 en generaci\u00f3, caldria editar les c\u00e8l\u00b7lules germinals, \u00e9s a dir, les c\u00e8l\u00b7lules que es troben els \u00f2vuls i els espermatozoides, per\u00f2 \u00e9s massa perill\u00f3s. Un error en l\u2019edici\u00f3 podria suposar un problema, ja que aquest seria transm\u00e8s a les pr\u00f2ximes generacions. Per tant, es podria eliminar la malaltia en un pacient, per\u00f2 no es podria evitar la seva transmissi\u00f3. A m\u00e9s, tamb\u00e9 he tingut l\u2019oportunitat d\u2019analitzar l\u2019opini\u00f3 de la poblaci\u00f3 i veure que encara no \u00e9s una t\u00e8cnica coneguda i necessita molta divulgaci\u00f3. CRISPR-Cas9 \u00e9s una tecnologia amb un gran potencial i que, en un futur no gaire lluny\u00e0, segur que ser\u00e0 la cura de moltes malalties de car\u00e0cter gen\u00e8tic, com per exemple, la fibrosi qu\u00edstica.<\/p>\n\n\n\n

\"CRISPR-Cas9<\/figure>\n\n\n\n

Si voleu, podeu llegir m\u00e9s sobre treballs de recerca de Batxillerat aqu\u00ed<\/a>\u2026<\/p>\n","protected":false},"excerpt":{"rendered":"

An\u00e0lisi de funcionament de CRISPR-Cas9, el seu potencial i la seva coneixen\u00e7a<\/p>\n

Read More<\/a><\/p>","protected":false},"author":3,"featured_media":7074,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"wpupg_custom_link":[],"wpupg_custom_link_behaviour":[],"wpupg_custom_link_nofollow":[],"wpupg_custom_image":[],"wpupg_custom_image_id":[],"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","footnotes":""},"categories":[93,444],"tags":[81,86,133,142,352,451,452,73,65],"class_list":{"0":"post-7070","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-darreres-publicacions","8":"category-tr-2122","9":"tag-ipsi","10":"tag-escola","11":"tag-recerca","12":"tag-treball-de-recerca","13":"tag-biologia","14":"tag-medicina","15":"tag-genetica","16":"tag-batxillerat","17":"tag-alumnes","18":"entry"},"yoast_head":"\nCRISPR-Cas9 per a la cura de la fibrosi qu\u00edstica - 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