{"id":119911,"date":"2024-07-25T11:00:34","date_gmt":"2024-07-25T09:00:34","guid":{"rendered":"https:\/\/ibecbarcelona.eu\/?p=119911"},"modified":"2024-07-25T11:23:54","modified_gmt":"2024-07-25T09:23:54","slug":"nuria-montserrat-receives-funding-from-aefat-to-advance-research-on-ataxia-telangiectasia","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/ca\/nuria-montserrat-receives-funding-from-aefat-to-advance-research-on-ataxia-telangiectasia\/","title":{"rendered":"N\u00faria Montserrat rep finan\u00e7ament d’Aefat\u00a0per avan\u00e7ar en l’estudi de l’At\u00e0xia\u00a0Telangi\u00e8ctasi\u00a0"},"content":{"rendered":"\n

N\u00faria Montserrat, professora de recerca\u00a0ICREA\u00a0a l’Institut de Bioenginyeria de Catalunya (IBEC), ha estat la receptora de dos ajuts econ\u00f2mics que sumen un total de 50.000 euros. Aquests fons estan destinats a finan\u00e7ar un innovador projecte\u00a0l’objectiu\u00a0del qual \u00e9s avan\u00e7ar en\u00a0l’estudi\u00a0de\u00a0l’at\u00e0xia\u00a0telangi\u00e8ctasi, una malaltia rara que afecta infants, manifestant-se abans dels dos anys i provocant una greu discapacitat f\u00edsica progressiva.\u00a0<\/h4>\n\n\n\n
\"\"<\/figure>\n\n\n\n

Aefat, l’associaci\u00f3 que agrupa les fam\u00edlies afectades per at\u00e0xia telangi\u00e8ctasi a Espanya, ha gestionat aquestes dues ajudes provinents de la Fundaci\u00f3 FEDER (Federaci\u00f3 Espanyola de Malalties Rares) i de la Fundaci\u00f3 Innocente Innocente, que, amb 25.000 euros cadascuna, han donat suport a la investigaci\u00f3 que N\u00faria Montserrat i el seu equip duen a terme des del gener a l’IBEC. <\/p>\n\n\n\n

El projecte “Modelling Ataxia Telangiectasia Pathogenesis and Therapeutics Using Human Pluripotent Stem Cells and Genetic Engineering” t\u00e9 com a objectiu emprar enginyeria gen\u00e8tica i cel\u00b7lular per crear c\u00e8l\u00b7lules\u00a0iPSc\u00a0amb les mutacions espec\u00edfiques dels pacients. Aquest enfocament permetr\u00e0 desenvolupar organoids cerebrals i explorar possibles processos\u00a0d’edici\u00f3\u00a0g\u00e8nica per a diverses mutacions. A m\u00e9s, el projecte busca establir una plataforma per al testat de f\u00e0rmacs, facilitant aix\u00ed la prova de possibles tractaments terap\u00e8utics abans de realitzar assajos cl\u00ednics en pacients.\u00a0
\u00a0
Els organoids cerebrals, creats en laboratori per replicar les c\u00e8l\u00b7lules i teixits danyats en els pacients amb at\u00e0xia telangi\u00e8ctasi\u00a0(A-T), representen un aven\u00e7 significatiu en la investigaci\u00f3. Aquests models acceleren el proc\u00e9s de prova de nous compostos terap\u00e8utics, que podrien millorar la qualitat de vida dels afectats. Aquest ambici\u00f3s projecte compta amb la col\u00b7laboraci\u00f3 de la Plataforma de\u00a0Biomodelos\u00a0y Biobancos del Instituto de Salud Carlos III<\/a>, el Dr. Jordi\u00a0Surrall\u00e9s\u00a0de l’Institut de Recerca de l’Hospital Sant Pau, i l’investigador Marc G\u00fcell de la Universitat Pompeu Fabra.\u00a0
\u00a0
Aquest projecte ha estat un dels set seleccionats per la Fundaci\u00f3 FEDER en la\u00a0seva\u00a0VIII convocat\u00f2ria del programa d’ajudes a la investigaci\u00f3 de malalties rares, i es va desplegar entre 52 propostes. A m\u00e9s, la Fundaci\u00f3\u00a0Innocente Innocente\u00a0ha reconegut el valor del projecte en la seva convocat\u00f2ria d’ajudes a entitats que treballen amb menors afectats per malalties rares a Espanya.\u00a0<\/p>\n\n\n\n

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

El president d’Aefat, Patxi Vill\u00e9n, va expressar el seu agra\u00efment pel suport rebut: “La investigaci\u00f3 mai va tot el r\u00e0pid que voldr\u00edem les fam\u00edlies, per\u00f2 agra\u00efm enormement el suport d’entitats com Fundaci\u00f3 FEDER i Fundaci\u00f3 Innocente Innocente per aquestes iniciatives, perqu\u00e8 ens donen esperan\u00e7a”. <\/p>\n\n\n\n

Aefat, fundada el 2009 i declarada d’utilitat p\u00fablica des del 2014,\u00a0continua recaptant\u00a0fons a trav\u00e9s de diverses activitats ben\u00e8fiques i reptes solidaris per finan\u00e7ar projectes d’investigaci\u00f3 i donar suport a les fam\u00edlies afectades per l’ at\u00e0xia telangi\u00e8ctasi\u00a0a Espanya. Des del 2015, l’associaci\u00f3 ha invertit m\u00e9s de 660.000 euros en 12 projectes d’investigaci\u00f3, tant nacionals com internacionals, col\u00b7laborant amb associacions similars d’altres pa\u00efsos.\u00a0
\u00a0
Aquest suport financer i el comprom\u00eds continu amb la investigaci\u00f3 reflecteixen l’esfor\u00e7 col\u00b7lectiu per trobar una cura o tractament per a l’at\u00e0xia telangi\u00e8ctasi, brindant esperan\u00e7a a les fam\u00edlies afectades per aquesta malaltia gen\u00e8tica, neurodegenerativa i multisist\u00e8mica.\u00a0
\u00a0
SOBRE\u00a0L’AT\u00c0XIA\u00a0TELANGI\u00c8CTASI\u00a0
<\/strong>L’ at\u00e0xia telangi\u00e8ctasi\u00a0(AT o A-T) \u00e9s un dels 300 tipus d’at\u00e0xies que existeixen i provoca una greu discapacitat f\u00edsica progressiva. Es tracta d’una malaltia multisist\u00e8mica que es manifesta habitualment abans dels dos anys, tot i que hi ha afectats que han esperat fins a\u00a0deu\u00a0anys per al diagn\u00f2stic perqu\u00e8 es confon amb altres patologies. Afecta les funcions de diferents\u00a0\u00f2rgans\u00a0i provoca incapacitat de coordinar moviments, p\u00e8rdua progressiva de mobilitat (cap als\u00a0nou\u00a0anys es necessita cadira de rodes), dificultat en la parla, estancament en el creixement, immunodefici\u00e8ncia, dificultats per menjar, problemes a la pell i en la visi\u00f3, pneum\u00f2nies i altres complicacions. Per la mateixa mutaci\u00f3, els pacients s\u00f3n m\u00e9s proclius als tumors malignes (com els sarcomes, limfomes, leuc\u00e8mies…).\u00a0<\/p>\n\n\n\n

Per saber en 2 minuts qu\u00e8 \u00e9s l’AT\u00c0XIA\u00a0TELANGI\u00c8CTASI<\/a>\u00a0(v\u00eddeo explicat per fam\u00edlies i afectats de tot el m\u00f3n)<\/p>\n","protected":false},"excerpt":{"rendered":"

N\u00faria Montserrat, professora de recerca\u00a0ICREA\u00a0a l’Institut de Bioenginyeria de Catalunya (IBEC), ha estat la receptora de dos ajuts econ\u00f2mics que sumen un total de 50.000 euros. Aquests fons estan destinats … Read more<\/a><\/p>\n","protected":false},"author":4,"featured_media":119914,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[98],"tags":[1944,1123,1780],"post_formats":[],"class_list":["post-119911","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticies-institucionals","tag-malalties-rares","tag-nuria-montserrat-ca-2","tag-pluripotency-for-organ-regeneration-ca"],"yoast_head":"\nN\u00faria Montserrat rep finan\u00e7ament d'Aefat\u00a0per avan\u00e7ar en l'estudi de l'At\u00e0xia\u00a0Telangi\u00e8ctasi\u00a0 - Institute for Bioengineering of Catalonia<\/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:\/\/ibecbarcelona.eu\/ca\/nuria-montserrat-receives-funding-from-aefat-to-advance-research-on-ataxia-telangiectasia\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"N\u00faria Montserrat rep finan\u00e7ament d'Aefat\u00a0per avan\u00e7ar en l'estudi de l'At\u00e0xia\u00a0Telangi\u00e8ctasi\u00a0 - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"N\u00faria Montserrat, professora de recerca\u00a0ICREA\u00a0a l’Institut de Bioenginyeria de Catalunya (IBEC), ha estat la receptora de dos ajuts econ\u00f2mics que sumen un total de 50.000 euros. 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