{"id":101640,"date":"2025-01-27T17:26:49","date_gmt":"2025-01-27T16:26:49","guid":{"rendered":"https:\/\/www.pcb.ub.edu\/un-estudio-coliderado-por-el-cnag-permite-obtener-diagnostico-genetico-a-mas-de-500-pacientes-con-enfermedades-raras\/"},"modified":"2025-01-28T15:24:20","modified_gmt":"2025-01-28T14:24:20","slug":"un-estudio-coliderado-por-el-cnag-permite-obtener-diagnostico-genetico-a-mas-de-500-pacientes-con-enfermedades-raras","status":"publish","type":"post","link":"https:\/\/www.pcb.ub.edu\/es\/un-estudio-coliderado-por-el-cnag-permite-obtener-diagnostico-genetico-a-mas-de-500-pacientes-con-enfermedades-raras\/","title":{"rendered":"Un estudio coliderado por el CNAG permite obtener diagn\u00f3stico gen\u00e9tico a m\u00e1s de 500 pacientes con enfermedades raras"},"content":{"rendered":"<p><strong>El <a href=\"https:\/\/www.pcb.ub.edu\/es\/empresa\/centre-nacional-danalisi-genomica-cnag\/\" target=\"_blank\" rel=\"noopener\">Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG<\/a>), con sede en el Parque Cient\u00edfico de Barcelona, ha liderado un estudio europeo que ha diagnosticado gen\u00e9ticamente a 506 pacientes con una enfermedad minoritaria. La investigaci\u00f3n, que forma parte del proyecto europeo Solve-RD y que ya se ha publicado en la revista cient\u00edfica Nature Medicine, se centr\u00f3 en encontrar un diagn\u00f3stico gen\u00e9tico para 6.004 familias con enfermedades raras, que aun no dispon\u00edan de resultados a pesar de haberse sometido a pruebas gen\u00e9ticas.<\/strong><\/p>\n<p>Las enfermedades raras afectan a menos de una persona de cada 2.000 y la gran variabilidad de s\u00edntomas que pueden presentarse hace que obtener un diagn\u00f3stico preciso sea un proceso largo e incierto para las familias. Sin embargo, con m\u00e1s de 7.000 enfermedades raras identificadas en la actualidad, se prev\u00e9 que aproximadamente que una de cada 20 personas acabar\u00e1 sufriendo alguna de ellas a lo largo de su vida. Debido a que el 70% de las enfermedades raras son de origen gen\u00e9tico, el proyecto de financiaci\u00f3n europeo Solve-RD (Solving the unsolved rare diseases) comenz\u00f3 hace unos a\u00f1os con el objetivo de encontrar un diagn\u00f3stico para 12.000 familias que padecen una enfermedad rara.<\/p>\n<p>Los investigadores de Solve-RD se centran en identificar los posibles cambios en la gen\u00e9tica de los pacientes que expliquen la causa de su condici\u00f3n. Un objetivo de gran complejidad, sobre todo teniendo en cuenta que estas familias ja hab\u00edan realizado pruebas gen\u00e9ticas anteriormente sin haber llegado a ning\u00fan resultado. Los 506 pacientes, que llevaban m\u00e1s de cinco a\u00f1os esperando respuestas, han recibido un diagn\u00f3stico gen\u00e9tico gracias al an\u00e1lisis sistem\u00e1tico de sus datos cl\u00ednicos y gen\u00f3micos, y a la utilizaci\u00f3n de la plataforma RD-Connect GPAP.<\/p>\n<p>La <a href=\"https:\/\/www.cnag.eu\/teams\/bioinformatics-unit\" target=\"_blank\" rel=\"noopener\">Unidad de Bioinform\u00e1tica del CNAG<\/a>, l\u00edder mundial en investigaci\u00f3n gen\u00e9tica en enfermedades raras dirigida por el <strong>Dr. Sergi Beltran<\/strong>, coordin\u00f3 este esfuerzo europeo en el que se llev\u00f3 a cabo el an\u00e1lisis y procesamiento de datos para contribuir a encontrar un diagn\u00f3stico para estas familias, adem\u00e1s de adaptar la plataforma RD-Connect GPAP para el proyecto. Esta plataforma de an\u00e1lisis gen\u00e9tico, combina datos gen\u00f3micos y cl\u00ednicos de m\u00e1s de 30.000 personas con enfermedades minoritarias (pacientes y sus familias), facilitando la identificaci\u00f3n de las causas gen\u00e9ticas de sus enfermedades.<\/p>\n<p>Para conseguir este gran informe, 37 centros de investigaci\u00f3n y hospitales de 12 pa\u00edses europeos y Canad\u00e1, unieron sus esfuerzos para colaborar en el proyecto Solve-RD, coordinado por la Universidad de T\u00fcbingen. Uno de los principales objetivos era la recopilaci\u00f3n completa de los datos de pacientes y familiares. Esta tarea de recopilaci\u00f3n y revisi\u00f3n de datos fue liderada por el CNAG, junto con el Radboud University Medical Center (Pa\u00edses Bajos) y la Universidad de T\u00fcbingen (Alemania).<\/p>\n<p>Las familias incluidas en este estudio proceden de cuatro de las 24 Redes Europeas de Referencia (ERN), comunidades que engloban centros de atenci\u00f3n m\u00e9dica especializados en enfermedades minoritarias, y del Programa Espa\u00f1ol de Enfermedades No Diagnosticadas. Estas familias sufren una amplia variedad de enfermedades raras, como trastornos neurol\u00f3gicos poco comunes, s\u00edndromes de malformaci\u00f3n, discapacidades intelectuales graves, enfermedades neuromusculares raras y c\u00e1nceres hereditarios.<\/p>\n<p><strong>\u00bb Art\u00edculo de referencia:<\/strong>\u00a0Laurie S, Steyaert W, de Boer E, et al. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.\u00a0<i>Nat Med<\/i>. Published online January 17, 2025. doi:\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39825153\/\" target=\"_blank\" rel=\"noopener\">10.1038\/s41591-024-03420-w<\/a><\/p>\n<p><strong>\u00bb\u00a0<\/strong><a href=\"https:\/\/www.cnag.eu\/news\/over-500-patients-receive-diagnosis-historic-milestone-rare-disease-research-europe-co-led-cnag\" target=\"_blank\" rel=\"noopener\"><strong>Enlace a la noticia [+]<\/strong><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>El Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG), con sede en el Parque Cient\u00edfico de Barcelona, ha liderado un estudio europeo que ha diagnosticado gen\u00e9ticamente a 506 pacientes con una enfermedad&#8230;<\/p>\n","protected":false},"author":1,"featured_media":101636,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[24],"tags":[237,238],"class_list":["post-101640","post","type-post","status-publish","format-standard","has-post-thumbnail","category-ciencia","tag-cnag-es","tag-enfermedades-raras"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.3 - 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