{"id":6714,"date":"2022-09-20T16:13:28","date_gmt":"2022-09-20T15:13:28","guid":{"rendered":"https:\/\/www.bdrdiagnostics.com\/2nd-cycle-of-experts-in-human-molecular-genetics-organised-by-annar-healthcare\/"},"modified":"2024-06-13T10:22:22","modified_gmt":"2024-06-13T09:22:22","slug":"2nd-cycle-of-experts-in-human-molecular-genetics-organised-by-annar-healthcare","status":"publish","type":"post","link":"https:\/\/www.bdrdiagnostics.com\/fr\/2nd-cycle-of-experts-in-human-molecular-genetics-organised-by-annar-healthcare\/","title":{"rendered":"2nd Cycle of Experts in Human Molecular Genetics organised by Annar Health Technologies\u00a0\u00a0\u00a0\u00a0"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-post\" data-elementor-id=\"6714\" class=\"elementor elementor-6714 elementor-4021\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6046257 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"6046257\" data-element_type=\"section\" data-e-type=\"section\" data-settings=\"{&quot;jet_parallax_layout_list&quot;:[{&quot;jet_parallax_layout_image&quot;:{&quot;url&quot;:&quot;&quot;,&quot;id&quot;:&quot;&quot;,&quot;size&quot;:&quot;&quot;},&quot;_id&quot;:&quot;a01c5fd&quot;,&quot;jet_parallax_layout_image_tablet&quot;:{&quot;url&quot;:&quot;&quot;,&quot;id&quot;:&quot;&quot;,&quot;size&quot;:&quot;&quot;},&quot;jet_parallax_layout_image_mobile&quot;:{&quot;url&quot;:&quot;&quot;,&quot;id&quot;:&quot;&quot;,&quot;size&quot;:&quot;&quot;},&quot;jet_parallax_layout_speed&quot;:{&quot;unit&quot;:&quot;%&quot;,&quot;size&quot;:50,&quot;sizes&quot;:[]},&quot;jet_parallax_layout_type&quot;:&quot;scroll&quot;,&quot;jet_parallax_layout_direction&quot;:&quot;1&quot;,&quot;jet_parallax_layout_fx_direction&quot;:null,&quot;jet_parallax_layout_z_index&quot;:&quot;&quot;,&quot;jet_parallax_layout_bg_x&quot;:50,&quot;jet_parallax_layout_bg_x_tablet&quot;:&quot;&quot;,&quot;jet_parallax_layout_bg_x_mobile&quot;:&quot;&quot;,&quot;jet_parallax_layout_bg_y&quot;:50,&quot;jet_parallax_layout_bg_y_tablet&quot;:&quot;&quot;,&quot;jet_parallax_layout_bg_y_mobile&quot;:&quot;&quot;,&quot;jet_parallax_layout_bg_size&quot;:&quot;auto&quot;,&quot;jet_parallax_layout_bg_size_tablet&quot;:&quot;&quot;,&quot;jet_parallax_layout_bg_size_mobile&quot;:&quot;&quot;,&quot;jet_parallax_layout_animation_prop&quot;:&quot;transform&quot;,&quot;jet_parallax_layout_on&quot;:[&quot;desktop&quot;,&quot;tablet&quot;]}]}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-fa37a8e\" data-id=\"fa37a8e\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e66804e elementor-widget elementor-widget-image\" data-id=\"e66804e\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"686\" height=\"454\" src=\"https:\/\/www.bdrdiagnostics.com\/wp-content\/uploads\/2022\/09\/segundo-ciclo.png\" class=\"attachment-full size-full wp-image-6715\" alt=\"\" srcset=\"https:\/\/www.bdrdiagnostics.com\/wp-content\/uploads\/2022\/09\/segundo-ciclo.png 686w, https:\/\/www.bdrdiagnostics.com\/wp-content\/uploads\/2022\/09\/segundo-ciclo-300x199.png 300w\" sizes=\"(max-width: 686px) 100vw, 686px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-476f76f6 elementor-widget elementor-widget-text-editor\" data-id=\"476f76f6\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>On Monday 12 September, Carolina Orrite, Field Application Specialist at BDR, participated in the 2nd Cycle of Experts in Human Molecular Genetics organised by our distributor Annar Health Technologies.<\/p><p>The session, which took place online, covered several points. It began with an introduction to BDR, explaining the Genvinset\u00ae and Adellgene\u00ae product lines and the groups of pathologies that can be diagnosed.<\/p><p>Subsequently, the Adellgene\u00ae line, which allows the molecular diagnosis of rare triplet repeat disorders using fluorescent fragment analysis technology, was discussed in depth.<\/p><p>The technology on which this product line is based was also briefly discussed: fragment analysis, consisting of TP-PCR (Triplet repeat primed PCR) and capillary electrophoresis, as well as the workflow to carry out the diagnostic protocol for these triplet expansion diseases.<\/p><p>An example of the results obtained and the quantification of repeats both manually and automatically with our software Adellgene\u00ae Triplet Repeat Calculator was also shown.<\/p><p>Finally, a small clinical practice was performed with the introduction of the 5 triplet repeat diseases for which we have developed a diagnostic kit:<\/p><ul><li>Fragile X syndrome<\/li><li>Huntington&rsquo;s disease<\/li><li>Spinocerebellar ataxias (SCAs)<\/li><li>Myotonic dystrophy<\/li><li>Friedreich&rsquo;s Ataxia<\/li><\/ul><p>In this part, we discussed the general aspects of the diseases, the molecular basis of the pathology, the genetic inheritance pattern, their current treatment, and a short commentary on what the EMQN and ACMG guidelines mention about the analysis of triplet expansion in these diseases and the technique used.<\/p><p><span class=\"NormalTextRun SCXW190846482 BCX9\">You can also watch the recording of the webinar <\/span><span class=\"NormalTextRun SCXW190846482 BCX9\">here<\/span><span class=\"NormalTextRun SCXW190846482 BCX9\">:<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-603a7bf elementor-widget elementor-widget-video\" data-id=\"603a7bf\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;youtube_url&quot;:&quot;https:\\\/\\\/youtu.be\\\/xBEVit53z0o&quot;,&quot;video_type&quot;:&quot;youtube&quot;,&quot;controls&quot;:&quot;yes&quot;}\" data-widget_type=\"video.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-wrapper elementor-open-inline\">\n\t\t\t<div class=\"elementor-video\"><\/div>\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-dbc852b elementor-widget elementor-widget-text-editor\" data-id=\"dbc852b\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><span class=\"TextRun SCXW168641992 BCX9\" lang=\"EN-GB\" xml:lang=\"EN-GB\" data-contrast=\"auto\"><span class=\"NormalTextRun SCXW168641992 BCX9\">If you would like more information on any of the topics discussed, please do not hesitate to contact us at <\/span><\/span><a class=\"Hyperlink SCXW168641992 BCX9\" href=\"mailto:info@bdrdiagnostics.com\" target=\"_blank\" rel=\"noreferrer noopener\"><span class=\"TextRun Underlined SCXW168641992 BCX9\" lang=\"EN-GB\" xml:lang=\"EN-GB\" data-contrast=\"none\"><span class=\"NormalTextRun SCXW168641992 BCX9\" data-ccp-charstyle=\"Hyperlink\">info@bdrdiagnostics.com<\/span><\/span><\/a><span class=\"EOP SCXW168641992 BCX9\" data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>On Monday 12 September, Carolina Orrite, Field Application Specialist at BDR, participated in the 2nd Cycle of Experts in Human Molecular Genetics organised by our distributor Annar Healthcare.  <\/p>\n","protected":false},"author":6,"featured_media":6716,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[52],"tags":[],"class_list":["post-6714","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-non-classifiee"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>2nd Cycle of Experts in Human Molecular Genetics organised by Annar Health Technologies\u00a0\u00a0\u00a0\u00a0 - BDR | Blackhills Diagnostics Resources<\/title>\n<meta name=\"description\" content=\"Huntington&#039;s disease (HD) is an inherited, degenerative disease caused by an expansion of the CAG triplet (cytosine, adenine and guanine) in the first exon of the HTT gene encoding the huntingtin protein. When these expansions are repeated 36 times or more, patients suffer neurodegeneration.\" \/>\n<meta name=\"robots\" content=\"noindex, nofollow\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"2nd Cycle of Experts in Human Molecular Genetics organised by Annar Health Technologies\u00a0\u00a0\u00a0\u00a0 - BDR | Blackhills Diagnostics Resources\" \/>\n<meta property=\"og:description\" content=\"Huntington&#039;s disease (HD) is an inherited, degenerative disease caused by an expansion of the CAG triplet (cytosine, adenine and guanine) in the first exon of the HTT gene encoding the huntingtin protein. 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