{"id":4234,"date":"2019-02-22T20:58:06","date_gmt":"2019-02-22T19:58:06","guid":{"rendered":"https:\/\/f101g.org\/tercera-reunion-del-comite-cientifico-de-la-f101g\/"},"modified":"2019-02-22T20:58:06","modified_gmt":"2019-02-22T19:58:06","slug":"tercera-reunion-del-comite-cientifico-de-la-f101g","status":"publish","type":"post","link":"https:\/\/f101g.org\/es\/tercera-reunion-del-comite-cientifico-de-la-f101g\/","title":{"rendered":"Tercera reuni\u00f3n del Comit\u00e9 Cient\u00edfico de la F101G"},"content":{"rendered":"<p style=\"text-align: justify;\"><em>El 22 de febrero de 2019 se celebr\u00f3 en el Banque Delen de Bruselas la tercera reuni\u00f3n del Comit\u00e9 Cient\u00edfico del Proyecto 101 Genomas dedicada al s\u00edndrome de Marfan. Durante la reuni\u00f3n, los cient\u00edficos decidieron los criterios fenot\u00edpicos que deb\u00edan recogerse y examinaron una propuesta de ayuda algor\u00edtmica para la recogida de mediciones de la aorta presentada por Gr\u00e9goire Vincke. Se presentaron los avances en la composici\u00f3n de la primera cohorte de investigaci\u00f3n. Por \u00faltimo, se presentaron los avances de la soluci\u00f3n algor\u00edtmica para ayudar a confirmar la clasificaci\u00f3n de las variantes de FBN1.<\/em><\/p>\n<p style=\"text-align: justify;\">A finales de febrero, el Comit\u00e9 Cient\u00edfico de la F101G se reuni\u00f3 por tercera vez en Bruselas. Los profesores Catherine Boileau y Guillaume Jondeau del H\u00f4pital Bichat de Par\u00eds, Julie De Backer, Anne de Paepe y Paul Coucke del UZ de Gante, Bart Loeys del UZ de Amberes y Guillaume Smits del H\u00f4pital Erasme han avanzado mucho en cuestiones relacionadas con&nbsp;: (i)&nbsp;la recogida de datos fenot\u00edpicos de forma coherente con un proyecto asociado (<em>MAC &#8211; Consorcio A\u00f3rtico de Montalcino<\/em><a href=\"#_ftn1\" name=\"_ftnref1\">[1<\/a>])&nbsp;(ii)&nbsp;la participaci\u00f3n de los biobancos en la recogida de muestras de sangre&nbsp;(iii)&nbsp;la participaci\u00f3n de socios bioinform\u00e1ticos&nbsp;(iv)&nbsp;la normalizaci\u00f3n y objetivaci\u00f3n de las mediciones de la aorta (<em>AORAM &#8211; Herramienta de medici\u00f3n autom\u00e1tica AORta<\/em>)&nbsp;(v)&nbsp;a la composici\u00f3n de la primera cohorte de investigaci\u00f3n<em>(GEMS &#8211; Genome-wide Epistasis for cardiovascular severity in Marfan Study<\/em>)&nbsp;; y (iv) a las soluciones algor\u00edtmicas de asistencia en desarrollo<em>(GEMVAP &#8211; GEne specific Missense VAriant Predictor<\/em>).<\/p>\n<p style=\"text-align: justify;\">Gracias al VASCERN &nbsp;, el principal Proyecto 101 Genomas dedicado al s\u00edndrome de Marfan, as\u00ed como sus dimensiones GEMS y GEMVAP, han obtenido la afiliaci\u00f3n de Genomic England (GEL) a los 100.000 genomas brit\u00e1nicos<a href=\"#_ftn3\" name=\"_ftnref3\">[3<\/a>]. Estas afiliaciones abren fant\u00e1sticas perspectivas para seguir trabajando.<\/p>\n<p>Los tres Presidentes de la Asociaci\u00f3n Belga del S\u00edndrome de Marfan, Sra. Douchka Peyra, de la Asociaci\u00f3n Francesa del S\u00edndrome de Marfan, Sra. St\u00e9phanie Delaunay, y de la Fundaci\u00f3n 101 Genomas, Sr. Michel Verboogen, estuvieron presentes y participaron con inter\u00e9s en los trabajos del Comit\u00e9 Cient\u00edfico.<\/p>\n<p style=\"text-align: justify;\"><a href=\"#_ftnref1\" name=\"_ftn1\">[1]<\/a> <a href=\"http:\/\/www.montalcinoaorticconsortium.org\/\">http:\/\/www.montalcinoaorticconsortium.org\/<\/a><\/p>\n<p style=\"text-align: justify;\"><a href=\"#_ftnref2\" name=\"_ftn2\">[2]<\/a> <a href=\"https:\/\/vascern.eu\/\">https:\/\/vascern.eu\/<\/a><\/p>\n<p style=\"text-align: justify;\"><a href=\"#_ftnref3\" name=\"_ftn3\">[3]<\/a> <a href=\"https:\/\/www.genomicsengland.co.uk\/about-genomics-england\/the-100000-genomes-project\/\">https:\/\/www.genomicsengland.co.uk\/about-genomics-england\/the-100000-genomes-project\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>El 22 de febrero de 2019 se celebr\u00f3 en el Banque Delen de Bruselas la tercera reuni\u00f3n del Comit\u00e9 Cient\u00edfico &hellip;<\/p>\n","protected":false},"author":3,"featured_media":2778,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":false,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"jetpack_post_was_ever_published":false},"categories":[116],"tags":[104,101],"class_list":["post-4234","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-comite-cientifico","tag-cientifico","tag-marfan-es"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - 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