{"id":15958,"date":"2024-08-12T13:38:05","date_gmt":"2024-08-12T13:38:05","guid":{"rendered":"https:\/\/www.nanion.de\/?post_type=news&#038;p=15958"},"modified":"2024-09-09T12:41:47","modified_gmt":"2024-09-09T12:41:47","slug":"channelopathy-profiling","status":"publish","type":"news","link":"https:\/\/nanion.com\/zh-hans\/news\/channelopathy-profiling\/","title":{"rendered":"Channelopathy profiling"},"content":{"rendered":"<div id=\"pl-15568\" class=\"panel-layout\">\n<div id=\"pg-15568-0\" class=\"panel-grid panel-no-style\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;full_height&quot;:&quot;&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;lsow_dark_bg&quot;:&quot;&quot;,&quot;bottom_margin&quot;:&quot;10px&quot;,&quot;cell_alignment&quot;:&quot;flex-start&quot;}\">\n<div id=\"pgc-15568-0-0\" class=\"panel-grid-cell\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;vertical_alignment&quot;:&quot;auto&quot;}\" data-weight=\"1\">\n<div id=\"panel-15568-0-0-0\" class=\"so-panel widget widget_text panel-first-child panel-last-child\" data-index=\"0\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;font_bold&quot;:&quot;&quot;}\">\n<div class=\"textwidget\">\n<p><em>In his second preclinical ion channel drug discovery blog, Marc Rogers gives a comprehensive review of how the explosion in patient genetic screening and need to profile the thousands of novel channelopathy mutations is being met by the ability of high throughput automated patch clamp to rapidly characterise their biophysical and pharmacological properties, and thereby reliably inform clinical treatments.<\/em><\/p>\n<p>&nbsp;<\/p>\n<hr>\n<\/div><\/div>\n<\/div>\n<\/div>\n<div id=\"pg-15568-1\" class=\"panel-grid panel-no-style\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;full_height&quot;:&quot;&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;lsow_dark_bg&quot;:&quot;&quot;,&quot;bottom_margin&quot;:&quot;10px&quot;,&quot;cell_alignment&quot;:&quot;flex-start&quot;}\">\n<div id=\"pgc-15568-1-0\" class=\"panel-grid-cell\" data-weight=\"0.40046296296296\">\n<div id=\"panel-15568-1-0-0\" class=\"so-panel widget widget_media_image panel-first-child panel-last-child\" data-index=\"1\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;font_bold&quot;:&quot;&quot;}\"><noscript><img decoding=\"async\" width=\"500\" height=\"500\" src=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green.png\" class=\"image wp-image-14153  attachment-full size-full\" alt style=\"max-width: 100%; height: auto;\" srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green.png 500w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green-300x300.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green-150x150.png 150w\" sizes=\"(max-width: 500px) 100vw, 500px\"><\/noscript><img decoding=\"async\" width=\"500\" height=\"500\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%20500%20500%22%3E%3C%2Fsvg%3E\" class=\"image wp-image-14153  attachment-full size-full lazyload\" alt style=\"max-width: 100%; height: auto;\" srcset=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%20500%20500%22%3E%3C%2Fsvg%3E 500w\" sizes=\"(max-width: 500px) 100vw, 500px\" data-srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green.png 500w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green-300x300.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green-150x150.png 150w\" data-src=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/04\/Marc-Rogers_accent-green.png\"><\/div>\n<\/div>\n<div id=\"pgc-15568-1-1\" class=\"panel-grid-cell\" data-weight=\"0.59953703703704\">\n<div id=\"panel-15568-1-1-0\" class=\"so-panel widget widget_text panel-first-child panel-last-child\" data-index=\"2\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;font_bold&quot;:&quot;&quot;}\">\n<div class=\"textwidget\">\n<p>After academic research as a neuroscientist and 20 years of commercial ion channel drug discovery, <strong>Marc Rogers<\/strong> now works as a freelance blogger, advisor and consultant for clients in the UK, EU and US where he shares his expertise and enthusiasm for all aspects of ion channel screening. He is particularly interested in automated patch clamp, and exploiting the potential of human iPS stem cell assays to facilitate the successful translation of new drugs into the clinic.<\/p>\n<\/div><\/div>\n<\/div>\n<\/div>\n<div id=\"pg-15568-2\" class=\"panel-grid panel-no-style\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;full_height&quot;:&quot;&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;lsow_dark_bg&quot;:&quot;&quot;,&quot;cell_alignment&quot;:&quot;flex-start&quot;}\">\n<div id=\"pgc-15568-2-0\" class=\"panel-grid-cell\" data-weight=\"1\">\n<div id=\"panel-15568-2-0-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"3\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;font_bold&quot;:&quot;&quot;}\">\n<div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n<hr>\n<p>&nbsp;<\/p>\n<p>The rapid expansion in patient genetic screening for common, rare and undiagnosed diseases has revealed a growing number of mutations in specific genes, but their significance for clinical diagnosis and understanding of disease severity and progression are frequently unknown. Disease-related mutations in ion channels are called channelopathies and they are typically characterised using cell-based and patch clamp assays to assess their effects on protein trafficking, cell surface expression and overall activity, and to profile subtle changes in biophysical properties and pharmacology. There are now over 1,300 human syndromes linked to channelopathies, and for some common diseases like epilepsy each ion channel may harbour hundreds or thousands of unique mutations, many of which have an unknown effect on channel function. The challenge to profile the growing number of channelopathies is now being met by high throughput automated patch clamp assays which can rapidly and reliably assess their properties and help to determine the clinical and disease risk of each mutation. This article will highlight recent case studies of channelopathy profiling by APC for cardiac and neuronal voltage-gated Na<sub>v<\/sub>1.5, Na<sub>v<\/sub>1.2, Na<sub>v<\/sub>1.6, Na<sub>v<\/sub>1.7, hERG, K<sub>v<\/sub>7.x, K<sub>v<\/sub>3.x, K2P, Ca<sub>v<\/sub>1.x and Ca<sub>v<\/sub>3.3 channels and NMDA GluR ligand-gated ionotropic receptors, and compare this technique to other methods for variant characterisation such as evolutionary analysis and <em>in silico<\/em> protein homology (e.g. AlphaMissense, RoseTTaFold) and atomistic models. Finally, translational case studies and assays will be presented that can help to confirm and extend the biophysical predictions of channelopathy effects into native and human cells.<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<div id=\"pg-15568-3\" class=\"panel-grid panel-no-style\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;full_height&quot;:&quot;&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;lsow_dark_bg&quot;:&quot;&quot;,&quot;cell_alignment&quot;:&quot;flex-start&quot;}\">\n<div id=\"pgc-15568-3-0\" class=\"panel-grid-cell\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;vertical_alignment&quot;:&quot;auto&quot;}\" data-weight=\"1\">\n<div id=\"panel-15568-3-0-0\" class=\"so-panel widget widget_media_image panel-first-child panel-last-child\" data-index=\"4\" data-style=\"{&quot;background_image_attachment&quot;:false,&quot;background_display&quot;:&quot;tile&quot;,&quot;background_image_size&quot;:&quot;full&quot;,&quot;background_image_opacity&quot;:&quot;100&quot;,&quot;border_thickness&quot;:&quot;1px&quot;,&quot;cvw_duration&quot;:&quot;300&quot;,&quot;cvw_easing&quot;:&quot;linear&quot;,&quot;cvw_anchor&quot;:&quot;top-bottom&quot;,&quot;cvw_repeat&quot;:&quot;true&quot;,&quot;font_bold&quot;:&quot;&quot;}\"><a href=\"\/content-download\/\" target=\"_blank\"><noscript><img decoding=\"async\" width=\"1625\" height=\"946\" src=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog.png\" class=\"image wp-image-15600  attachment-full size-full\" alt style=\"max-width: 100%; height: auto;\" srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog.png 1625w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-300x175.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-1024x596.png 1024w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-768x447.png 768w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-1536x894.png 1536w\" sizes=\"(max-width: 1625px) 100vw, 1625px\"><\/noscript><img decoding=\"async\" width=\"1625\" height=\"946\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%201625%20946%22%3E%3C%2Fsvg%3E\" class=\"image wp-image-15600  attachment-full size-full lazyload\" alt style=\"max-width: 100%; height: auto;\" srcset=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%201625%20946%22%3E%3C%2Fsvg%3E 1625w\" sizes=\"(max-width: 1625px) 100vw, 1625px\" data-srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog.png 1625w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-300x175.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-1024x596.png 1024w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-768x447.png 768w, https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog-1536x894.png 1536w\" data-src=\"https:\/\/nanion.com\/wp-content\/uploads\/2024\/08\/20240813_Q2-pre-clinical-drug-discovery-blog-with-Marc-Rogers_FOR-WEB-Download-full-blog.png\"><\/a><\/div>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>In his second preclinical ion channel drug discovery bl [&hellip;]<\/p>\n","protected":false},"featured_media":15598,"template":"","news_categories":[390],"class_list":["post-15958","news","type-news","status-publish","has-post-thumbnail","hentry","news_categories-blogs-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/news\/15958","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/news"}],"about":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/types\/news"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/media\/15598"}],"wp:attachment":[{"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/media?parent=15958"}],"wp:term":[{"taxonomy":"news_categories","embeddable":true,"href":"https:\/\/nanion.com\/zh-hans\/wp-json\/wp\/v2\/news_categories?post=15958"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}