{"id":4253,"date":"2019-02-22T20:58:06","date_gmt":"2019-02-22T19:58:06","guid":{"rendered":"https:\/\/f101g.org\/derde-bijeenkomst-van-het-wetenschappelijk-comite-f101g\/"},"modified":"2019-02-22T20:58:06","modified_gmt":"2019-02-22T19:58:06","slug":"derde-bijeenkomst-van-het-wetenschappelijk-comite-f101g","status":"publish","type":"post","link":"https:\/\/f101g.org\/nl\/derde-bijeenkomst-van-het-wetenschappelijk-comite-f101g\/","title":{"rendered":"Derde bijeenkomst van het wetenschappelijk comit\u00e9 F101G"},"content":{"rendered":"<p style=\"text-align: justify;\"><em>Op 22 februari 2019 vond bij Bank Delen in Brussel de derde bijeenkomst plaats van het wetenschappelijk comit\u00e9 van het 101 Genomes Project gewijd aan het Marfan syndroom. Tijdens de bijeenkomst besloten de wetenschappers welke fenotypische criteria verzameld moesten worden en bestudeerden ze een voorstel voor algoritmische ondersteuning voor het verzamelen van metingen van de aorta, gepresenteerd door Gr\u00e9goire Vincke. De voortgang van de samenstelling van het eerste onderzoekscohort werd gepresenteerd. Tot slot werd de voortgang van de algoritmische oplossing gepresenteerd om de classificatie van FBN1-varianten te helpen bevestigen.<\/em><\/p>\n<p style=\"text-align: justify;\">Eind februari kwam het wetenschappelijk comit\u00e9 van F101G voor de derde keer bijeen in Brussel. Professoren Catherine Boileau en Guillaume Jondeau van H\u00f4pital Bichat in Parijs, Julie De Backer, Anne de Paepe en Paul Coucke van UZ Gent, Bart Loeys van UZ Antwerpen en Guillaume Smits van H\u00f4pital Erasme hebben goede vooruitgang geboekt op vragen met betrekking tot&nbsp;: (i)&nbsp;het verzamelen van fenotypische gegevens op een manier die consistent is met een partnerproject (<em>MAC &#8211; Montalcino Aorta Consortium<\/em><a href=\"#_ftn1\" name=\"_ftnref1\">[1<\/a>])&nbsp;(ii)&nbsp;de betrokkenheid van biobanken bij de inzameling van bloedmonsters&nbsp;(iii)&nbsp;de betrokkenheid van bioinformaticapartners&nbsp;iv)&nbsp;de standaardisatie en objectivering van aortametingen (<em>AORAM &#8211; AORta automatisch meetinstrument<\/em>)&nbsp;(v)&nbsp;naar de samenstelling van het eerste onderzoekscohort<em>(GEMS &#8211; Genome-wide Epistasis for cardiovascular severity in Marfan Study<\/em>)&nbsp;; en (iv) naar de algoritmische hulpoplossingen in ontwikkeling<em>(GEMVAP &#8211; GEne specific Missense VAriant Predictor<\/em>).<\/p>\n<p style=\"text-align: justify;\">Dankzij VASCERN &nbsp;hebben het 101 Genomes Core Project gewijd aan het Marfan syndroom en de GEMS- en GEMVAP-dimensies de aansluiting van Genomic England (GEL) bij de Britse 100.000 Genomes verkregen<a href=\"#_ftn3\" name=\"_ftnref3\">[3<\/a>]. Deze connecties bieden fantastische perspectieven voor verder werk.<\/p>\n<p>De drie voorzitters van de Belgische Marfan Syndroom Vereniging, mevrouw Douchka Peyra, de Franse Marfan Syndroom Vereniging, mevrouw St\u00e9phanie Delaunay, en de 101 Genomes Foundation, de heer Michel Verboogen, waren aanwezig en namen met belangstelling deel aan het werk van het Wetenschappelijk Comit\u00e9.<\/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>Op 22 februari 2019 vond bij Bank Delen in Brussel de derde bijeenkomst plaats van het wetenschappelijk comit\u00e9 van het &hellip;<\/p>\n","protected":false},"author":3,"featured_media":2774,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_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}},"categories":[117],"tags":[81,85],"class_list":["post-4253","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-wetenschappelijk-comite","tag-marfan-nl","tag-wetenschapper"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - 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