{"id":9463,"date":"2025-07-07T12:29:00","date_gmt":"2025-07-07T12:29:00","guid":{"rendered":"https:\/\/afcra-smo.org\/?p=9463"},"modified":"2026-06-04T15:17:22","modified_gmt":"2026-06-04T15:17:22","slug":"medecine-genomique-afrique-maladies-rares","status":"publish","type":"post","link":"https:\/\/afcra-smo.org\/en\/medecine-genomique-afrique-maladies-rares\/","title":{"rendered":"Genomic medicine in Africa: a pilot project that is changing lives"},"content":{"rendered":"<article class=\"afcra-post\">\n\n  <figure style=\"margin:0 0 32px 0;\">\n    <img decoding=\"async\" \n      data-src=\"https:\/\/afcra-smo.org\/wp-content\/uploads\/2026\/06\/Medecine-genetique.png\" \n      alt=\"M\u00e9decine g\u00e9nomique en Afrique \u2013 Tests g\u00e9n\u00e9tiques et maladies rares \u2013 AFCRA SMO\"\n      style=\"--smush-placeholder-width: 940px; --smush-placeholder-aspect-ratio: 940\/788;width:100%; border-radius:10px;\"\n src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" class=\"lazyload\" \/>\n  <\/figure>\n\n  <p>\n    Rare genetic diseases remain <strong>massively underdiagnosed in Africa<\/strong>, This is due to the lack of newborn screening, the shortage of medical genetics specialists, and the inaccessibility of molecular testing. A pioneering initiative is changing this reality.\n  <\/p>\n\n  <h2 style=\"color:#1B3A6B; font-size:1.4em; margin-top:32px;\">A groundbreaking pilot project in West Africa<\/h2>\n\n  <p>\n    Since 2021, a collaboration between the <strong>Dr. Pedro Rodriguez Cruz<\/strong> (clinical neurologist), the\u2019<strong>Cheikh Anta Diop University of Dakar<\/strong> and the <strong>National Center for Genomic Analysis of Spain<\/strong> This has enabled the launch of an unprecedented pilot project on the continent. Its three objectives:\n  <\/p>\n\n  <ul style=\"list-style:none; padding:0; margin:16px 0;\">\n    <li style=\"display:flex; align-items:flex-start; gap:12px; padding:14px 16px; background:#F8F9FC; border-radius:8px; margin-bottom:10px; border-left:3px solid #C9A84C;\">\n      <span style=\"color:#C9A84C; font-size:1.2em;\">\ud83e\uddec<\/span>\n      <span style=\"color:#374151;\">Offering <strong>free genetic tests<\/strong> to patients in Senegal, Gambia and West Africa<\/span>\n    <\/li>\n    <li style=\"display:flex; align-items:flex-start; gap:12px; padding:14px 16px; background:#F8F9FC; border-radius:8px; margin-bottom:10px; border-left:3px solid #C9A84C;\">\n      <span style=\"color:#C9A84C; font-size:1.2em;\">\ud83d\udcca<\/span>\n      <span style=\"color:#374151;\">To constitute a <strong>African genetic database<\/strong> useful for global research<\/span>\n    <\/li>\n    <li style=\"display:flex; align-items:flex-start; gap:12px; padding:14px 16px; background:#F8F9FC; border-radius:8px; margin-bottom:10px; border-left:3px solid #C9A84C;\">\n      <span style=\"color:#C9A84C; font-size:1.2em;\">\ud83c\udf93<\/span>\n      <span style=\"color:#374151;\"><strong>To train and raise awareness<\/strong> local healthcare professionals in clinical genetics<\/span>\n    <\/li>\n  <\/ul>\n\n  <h2 style=\"color:#1B3A6B; font-size:1.4em; margin-top:40px;\">Concrete results \u2014 1,300 patients and families<\/h2>\n\n  <p>\n    The project has already recruited <strong>1,300 patients and families<\/strong>. Clinical cases illustrate the direct impact on patient prognosis:\n  <\/p>\n\n  <ul style=\"list-style:none; padding:0; margin:16px 0;\">\n    <li style=\"display:flex; align-items:flex-start; gap:12px; padding:14px 16px; background:#F8F9FC; border-radius:8px; margin-bottom:10px; border-left:3px solid #1B3A6B;\">\n      <span style=\"font-size:1.2em;\">\u2705<\/span>\n      <span style=\"color:#374151;\"><strong>Riboflavin deficiency<\/strong> \u2014 diagnosis made and effectively treated with vitamin B2<\/span>\n    <\/li>\n    <li style=\"display:flex; align-items:flex-start; gap:12px; padding:14px 16px; background:#F8F9FC; border-radius:8px; margin-bottom:10px; border-left:3px solid #1B3A6B;\">\n      <span style=\"font-size:1.2em;\">\u2705<\/span>\n      <span style=\"color:#374151;\"><strong>Duchenne dystrophy<\/strong> \u2014 detected early, allowing for treatment with corticosteroids<\/span>\n    <\/li>\n    <li style=\"display:flex; align-items:flex-start; gap:12px; padding:14px 16px; background:#F8F9FC; border-radius:8px; margin-bottom:10px; border-left:3px solid #1B3A6B;\">\n      <span style=\"font-size:1.2em;\">\u2705<\/span>\n      <span style=\"color:#374151;\"><strong>Glutaric acidemia<\/strong> \u2014 Metabolic disease diagnosed in a child, preventing severe neurological complications<\/span>\n    <\/li>\n  <\/ul>\n\n  <h2 style=\"color:#1B3A6B; font-size:1.4em; margin-top:40px;\">A model to be generalized<\/h2>\n\n  <blockquote style=\"border-left:4px solid #1B3A6B; padding:16px 20px; color:#374151; font-style:italic; margin:24px 0; background:#F8F9FC; border-radius:0 8px 8px 0;\">\n    This project demonstrates that a tailored, contextualized, and collaborative genomic approach is possible on the African continent\u2014with a direct impact on patient outcomes. Genomic medicine should not remain a luxury reserved for developed countries.\n    <br\/><br\/>\n    For healthcare professionals, this advancement underscores the importance of genetic testing in the investigation of any unexplained pathology. It should be closely monitored and actively supported to build a genuine African capacity in clinical genetics.\n    <br\/><strong>\u2014 The AFCRA SMO Team<\/strong>\n  <\/blockquote>\n\n  <p style=\"margin-top:24px;\">\n    \ud83c\udf10 <a href=\"https:\/\/afcra-smo.org\/en\/\" target=\"_blank\" rel=\"noopener\" \n    style=\"color:#1B3A6B; font-weight:700;\">www.afcra-smo.org<\/a>\n    &nbsp;&nbsp;| \ud83d\udce9 <a href=\"https:\/\/afcra-smo.org\/en\/contact\/\" target=\"_blank\" rel=\"noopener\" \n    style=\"color:#1B3A6B; font-weight:700;\">Contact us<\/a>\n  <\/p>\n\n  <p style=\"margin-top:24px; font-size:0.9em; color:#6B7280;\">\n    <strong>Tags:<\/strong> #MecineGenomics | #RechercheCliniqueAfrique | #Gen\u00e9tiqueM\u00e9thodesM\u00e9thodesRares | #D\u00e9stageNeonatal | #AFCRA\n  <\/p>\n\n<\/article>","protected":false},"excerpt":{"rendered":"<p>Les maladies g\u00e9n\u00e9tiques rares restent massivement sous-diagnostiqu\u00e9es en Afrique, en raison de l&rsquo;absence de d\u00e9pistage n\u00e9onatal, du manque de sp\u00e9cialistes [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":9460,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_uag_custom_page_level_css":"","site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"disabled","footer-sml-layout":"","ast-disable-related-posts":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"set","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center 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maladies g\u00e9n\u00e9tiques rares restent massivement sous-diagnostiqu\u00e9es en Afrique, en raison de l&rsquo;absence de d\u00e9pistage n\u00e9onatal, du manque de sp\u00e9cialistes 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