{"id":7131,"date":"2026-10-10T08:45:21","date_gmt":"2026-10-10T06:45:21","guid":{"rendered":"https:\/\/f101g.org\/?p=7131"},"modified":"2026-10-10T13:43:09","modified_gmt":"2026-10-10T11:43:09","slug":"science-in-spain-advancing-marfan-research-together","status":"publish","type":"post","link":"https:\/\/f101g.org\/en\/science-in-spain-advancing-marfan-research-together\/","title":{"rendered":"Science in Spain: Advancing Marfan Research Together"},"content":{"rendered":"<div><em><strong>The first results emerging from the genomes collected by 101 Genomes have uncovered a potentially protective genetic modifier in Marfan syndrome. Discover the key highlights from the Science in Spain 2026 symposium<\/strong><\/em><\/div>\n<p><span style=\"font-size: 1rem;\">We were proud to see the work of 101 Genomes featured at this year&#8217;s <\/span><strong style=\"font-size: 1rem;\">Science in Spain<\/strong><span style=\"font-size: 1rem;\"> symposium, where researchers, clinicians, patient advocates and families from around the world came together to share the latest advances in Marfan syndrome research and care.<\/span><\/p>\n<div>\n<h4><span style=\"color: #e51075;\">New insights from the first 50 genomes collected by 101 Genomes<\/span><\/h4>\n<p>One of the highlights of the meeting was the presentation by <strong>Prof. Bart Loeys<\/strong>, who shared exciting findings from GEMS research conducted together with <strong>Lotte Van Den Heuvel<\/strong>.<\/p>\n<p>Their work identified a potential protective modifier gene, which may help explain why some individuals carrying the same <em>FBN1<\/em> variant experience milder symptoms than others. Understanding these differences could ultimately improve risk prediction and patient care.<\/p>\n<p>We were particularly proud to see that this GEMS research was made possible using the first 50 genomes collected by 101 Genomes and was based on the research methodology developed by our Scientific Committee, including <strong>Julie De Backer<\/strong>, <strong>Guillaume Jondeau<\/strong> and <strong>Catherine Boileau<\/strong>, who were also present at the symposium.<\/p>\n<p>The results presented by Bart identify\u00a0 a potential protective modifier that opens paths towards better risk prediction and, in time, new treatments.<\/p>\n<p>The journey does not stop there. We are delighted that <strong>185 newly sequenced genomes (collected worldwide thanks to the GEMS-App!!!)<\/strong> are now being added to GEMS research cohort, allowing Bart and his team to return to the laboratory with an even larger dataset to expand upon and validate these promising findings.<\/p>\n<p>If you haven\u2019t already done so, please do join GEMS for Marfan \u2013 as every participant counts!: <span class=\"html-span xdj266r x14z9mp xat24cr x1lziwak xexx8yu xyri2b x18d9i69 x1c1uobl x1hl2dhg x16tdsg8 x1vvkbs\"><a class=\"x1i10hfl xjbqb8w x1ejq31n x18oe1m7 x1sy0etr xstzfhl x972fbf x10w94by x1qhh985 x14e42zd x9f619 x1ypdohk xt0psk2 x3ct3a4 xdj266r x14z9mp xat24cr x1lziwak xexx8yu xyri2b x18d9i69 x1c1uobl x16tdsg8 x1hl2dhg xggy1nq x1a2a7pz xkrqix3 x1sur9pj x1fey0fg x1s688f\" tabindex=\"0\" role=\"link\" href=\"https:\/\/www.101gems.be\/?fbclid=IwZXh0bgNhZW0CMTAAcGRvZgFicmlkETF0a1JmaURMMmtab0NNWTZSc3J0YwZhcHBfaWQQMjIyMDM5MTc4ODIwMDg5MgABHs7OtJ-wrxU2dQgzyb_USSxxiBFPGCyLInY65YDiJppM8zj_O31eTNiDVr4d_aem_0JpNRA2Xzyd2b5fkPYGmGA\" target=\"_blank\" rel=\"nofollow noopener\">https:\/\/www.101gems.be\/<\/a><\/span><\/p>\n<p>Bart\u2019s presentation can be viewed here \ud83d\udc49 <a href=\"https:\/\/youtu.be\/tHyBcahBjXU?si=tedkFzWw4a0IACgA\" target=\"_blank\" rel=\"noopener\">https:\/\/youtu.be\/tHyBcahBjXU?si=tedkFzWw4a0IACgA<\/a><\/p>\n<div class=\"relative w-full h-0 pb-[56%]\"><iframe loading=\"lazy\" class=\"absolute top-0 left-0 w-full h-full\" title=\"20261004 BART LOEYS KLF15 modifier presentation\" width=\"500\" height=\"281\" src=\"https:\/\/www.youtube.com\/embed\/tHyBcahBjXU?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<h4><span style=\"color: #e51075;\">Increasing focus on patient-centred care<\/span><\/h4>\n<p>As expected, aortic dissection, one of the most serious risks faced by people living with Marfan syndrome, was a major topic throughout the conference.<\/p>\n<p>What was equally encouraging, however, was the growing emphasis on patient-centred care. Across both research and clinical practice, there was clear recognition that improving outcomes means not only advancing scientific knowledge but also addressing the realities of living with the condition.<\/p>\n<p>In this regard, the work presented by <strong>Catherine Isadora C\u00f4t\u00e9<\/strong>, exploring the gap between clinical recommendations and real-world care, stood out as a particularly important contribution. Research of this kind has the potential to meaningfully improve the patient experience.<\/p>\n<h4><span style=\"color: #e51075;\">Celebrating innovation: the PEARS technique<\/span><\/h4>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-7138 alignleft\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-07-at-12.43.21-TAL-315x420.jpeg\" alt=\"\" width=\"235\" height=\"313\" srcset=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-07-at-12.43.21-TAL-315x420.jpeg 315w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-07-at-12.43.21-TAL-768x1024.jpeg 768w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-07-at-12.43.21-TAL-1152x1536.jpeg 1152w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-07-at-12.43.21-TAL.jpeg 1536w\" sizes=\"auto, (max-width: 235px) 100vw, 235px\" \/>We were also deeply moved to witness <strong>Tal Golesworthy<\/strong> receive an Innovation Award for his pioneering work on the <strong>PEARS<\/strong> technique.<\/p>\n<p>PEARS (Personalised External Aortic Root Support) uses a custom-made external sleeve, designed from a 3D model of the patient&#8217;s aorta, to provide support and protection against dissection.<\/p>\n<p>What makes this achievement even more remarkable is that Tal, himself a Marfan patient and engineer, first conceived, developed and tested this solution on himself.<\/p>\n<p>The determination to create solutions from lived experience and having literally &#8216;<strong>skin in the game<\/strong>&#8216; is something that has inspired us at 101 Genomes, and it was an honour assisting to the recognition of Tal&#8217;s extraordinary contribution.<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<div>\n<h4><span style=\"color: #e51075;\">Continuing the effort in Neonatal Marfan syndrome<\/span><\/h4>\n<p><img loading=\"lazy\" decoding=\"async\" class=\" wp-image-7142 alignright\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-01-315x420.jpg\" alt=\"\" width=\"267\" height=\"356\" srcset=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-01-315x420.jpg 315w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-01-768x1024.jpg 768w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-01-1152x1536.jpg 1152w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-01-1536x2048.jpg 1536w\" sizes=\"auto, (max-width: 267px) 100vw, 267px\" \/>The symposium also provided an opportunity to reflect on the challenges posed by <strong>Neonatal Marfan syndrome<\/strong>, one of the most severe and least understood forms of the disease.<\/p>\n<p>While many questions remain unanswered, the research presented reinforced our belief that progress is possible. This topic is particularly close to the hearts of everyone involved with 101 Genomes, and we are grateful for the support and engagement of individuals such as <strong>Allis<\/strong><strong>on Pullins<\/strong>, <strong>Emily Hardman<\/strong> and <strong>Shaine Morris<\/strong>, who are helping move the field forward.<\/p>\n<h4><span style=\"color: #e51075;\">The value of collaboration<\/span><\/h4>\n<p>Finally, our <strong>poster sessions<\/strong> provided wonderful opportunities to engage directly with participants, exchange ideas, discuss challenges and connect one-to-one with researchers and patients from across the globe.<\/p>\n<p>A huge thanks to <strong>The Marfan Foundation<\/strong> for hosting us and for the whole event!<\/p>\n<div class=\"wp-block-pdfemb-pdf-embedder-viewer\"><a href=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Science-in-Spain.pdf\" class=\"pdfemb-viewer\" style=\"\" data-width=\"max\" data-height=\"max\" data-toolbar=\"bottom\" 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portrait'>\n\t\t\t\t<a href='https:\/\/f101g.org\/en\/science-in-spain-advancing-marfan-research-together\/photo-07\/'><img loading=\"lazy\" decoding=\"async\" width=\"1980\" height=\"3520\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-07.jpg\" class=\"attachment-large size-large\" alt=\"\" srcset=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-07.jpg 1980w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-07-236x420.jpg 236w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-07-768x1365.jpg 768w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-07-864x1536.jpg 864w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/Photo-07-1152x2048.jpg 1152w\" sizes=\"auto, (max-width: 1980px) 100vw, 1980px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon landscape'>\n\t\t\t\t<a href='https:\/\/f101g.org\/en\/science-in-spain-advancing-marfan-research-together\/photo-05\/'><img loading=\"lazy\" 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src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/IMG_4485.jpeg\" class=\"attachment-large size-large\" alt=\"\" srcset=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/IMG_4485.jpeg 2048w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/IMG_4485-420x315.jpeg 420w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/IMG_4485-768x576.jpeg 768w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/IMG_4485-1536x1152.jpeg 1536w\" sizes=\"auto, (max-width: 2048px) 100vw, 2048px\" \/><\/a>\n\t\t\t<\/div><\/figure><figure class='gallery-item'>\n\t\t\t<div class='gallery-icon landscape'>\n\t\t\t\t<a href='https:\/\/f101g.org\/en\/science-in-spain-advancing-marfan-research-together\/whatsapp-image-2026-10-06-at-20-22-08\/'><img loading=\"lazy\" decoding=\"async\" width=\"919\" height=\"689\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-06-at-20.22.08.jpeg\" class=\"attachment-large size-large\" alt=\"\" srcset=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-06-at-20.22.08.jpeg 919w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-06-at-20.22.08-420x315.jpeg 420w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/10\/WhatsApp-Image-2026-10-06-at-20.22.08-768x576.jpeg 768w\" sizes=\"auto, (max-width: 919px) 100vw, 919px\" \/><\/a>\n\t\t\t<\/div><\/figure>\n\t\t<\/div>\n\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>The first results emerging from the genomes collected by 101 Genomes have uncovered a potentially protective genetic modifier in Marfan &hellip;<\/p>\n","protected":false},"author":2,"featured_media":7132,"comment_status":"closed","ping_status":"closed","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":"{title}\r\n\r\n{excerpt}\r\n\r\n{url}","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"_wpas_customize_per_network":false,"jetpack_post_was_ever_published":false},"categories":[172,61,170],"tags":[],"class_list":["post-7131","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-event","category-gems-en","category-marfan"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Science in Spain: Advancing Marfan Research Together - 101 Genomes Foundation - Genomics for Rare Diseases<\/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:\/\/f101g.org\/en\/science-in-spain-advancing-marfan-research-together\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Science in Spain: Advancing Marfan Research Together - 101 Genomes Foundation - Genomics for Rare Diseases\" \/>\n<meta property=\"og:description\" content=\"The first results emerging from the genomes collected by 101 Genomes have uncovered a potentially protective genetic modifier in Marfan &hellip;\" \/>\n<meta property=\"og:url\" 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