{"id":14357,"date":"2022-08-30T09:11:55","date_gmt":"2022-08-30T07:11:55","guid":{"rendered":"https:\/\/www.nanion.de\/therapeutic-areas\/rare-diseases\/"},"modified":"2025-10-23T06:42:00","modified_gmt":"2025-10-23T04:42:00","slug":"rare-diseases","status":"publish","type":"page","link":"https:\/\/nanion.com\/ja\/therapeutic-areas\/rare-diseases\/","title":{"rendered":"Rare diseases"},"content":{"rendered":"<div id=\"pl-14357\" class=\"panel-layout\"><div id=\"pg-14357-0\" class=\"panel-grid panel-has-style\"><div class=\"siteorigin-panels-stretch panel-row-style panel-row-style-for-14357-0\" data-stretch-type=\"full-width-stretch\"><div id=\"pgc-14357-0-0\" class=\"panel-grid-cell\"><div id=\"panel-14357-0-0-0\" class=\"so-panel widget widget_general-text-widget panel-first-child panel-last-child\" data-index=\"0\"><div class=\"so-widget-general-text-widget so-widget-general-text-widget-title-widget-de16310f3dd9-14357\"><style>\n    <\/style>\n<div class=\"container simple-header-section \">\n\t<div class=\"titlewidget-section\" uk-scrollspy=\"cls:uk-animation-slide-bottom; delay: 300\">\n\t\t<svg class=\"bf-text-mobile\">\t\n\t\t\t<path class=\"st0\" d=\"M8.6,104.7V16.3H0V0h26v9.5v6.7v88.4v4.4v11.9H0v-16.3H8.6z\" \/>\n\t\t<\/svg>\n\n\t\t<svg class=\"bf-text\">\n\t\t\t<path d=\"M0.5,0.3V23h12v123h-12v22.7h36.3v-16.5V146V23v-9.4V0.3H0.5z\" \/>\n\t\t<\/svg>\n\t\t\n\t\t<div class=\"title-box\">\n\t\t\t\t\t\t\n\t\t\t\t<div class=\"texttitle\" uk-scrollspy=\"cls:uk-animation-slide-bottom; delay: 400\">\n\t\t\t\t\t<h1>Rare diseases<\/h1>\n<\/div>\n\t\t\t\t\t\t\n\n\t\t\t\t\t\t\t<h4 class=\"titledescription\" uk-scrollspy=\"cls:uk-animation-slide-bottom; delay: 500\">\n\t\t\t\t\tMutations affecting critical proteins.<\/h4>\n\t\t\t\n\t\t<\/div>\n\n\t\t<svg class=\"at-text\">\n\t\t\t<path d=\"M25.2,146.2V22.8h12V0H0.8v13.3v9.4v123.5v6.2V169h36.3v-22.8H25.2z\" \/>\n\t\t\t<\/svg>\n\t\t\n\t\t<svg class=\"at-text-mobile\">\t\n\t\t\t<path class=\"st0\" d=\"M17.4,104.7V16.3H26V0H0v9.5v6.7v88.4v4.4v11.9h26v-16.3H17.4z\" \/>\n\t\t<\/svg>\n\t<\/div>\n    <\/div><\/div><\/div><\/div><\/div><\/div><div id=\"pg-14357-1\" class=\"panel-grid panel-has-style\"><div class=\"bg-right panel-row-style panel-row-style-for-14357-1\"><div id=\"pgc-14357-1-0\" class=\"panel-grid-cell\"><div id=\"panel-14357-1-0-0\" class=\"so-panel widget widget_read-more-widget panel-first-child panel-last-child\" data-index=\"1\"><div class=\"so-widget-read-more-widget so-widget-read-more-widget-default-d75171398898-14357\"><style>\n    \/*.read-more-section .image-wrapper #box-img-2075763025{\n        width: 420px;\n        height: 520px;\n    }*\/\n    .read-more-section .image-wrapper #box-img-2075763025 .image{\n        width: calc(100% + 12%);\n        height: calc(100% + 12%);\n    }\n<\/style>\n<div class=\"read-more-section row\" id=\"readmore-2037862176\">\n                            <div class=\"col-12 col-md-4 image-wrapper order-0\"> <!--data-aos=\"fade-down\" data-aos-offset=\"700\" data-aos-duration=\"5000\" data-aos-once=\"true\"-->\n                        <div class=\"box-img\" id=\"box-img-2075763025\" data-mark=\"12%\">\n                            <noscript><img decoding=\"async\" class=\"image\" src=\"https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/Rare-diseases_840x1040_-1.jpg\" style=\"bottom:-18%\"><\/noscript><img decoding=\"async\" class=\"image lazyload\" src=\"data:image\/gif;base64,R0lGODlhAQABAIAAAAAAAP\/\/\/yH5BAEAAAAALAAAAAABAAEAAAIBRAA7\" style=\"bottom:-18%\" data-src=\"https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/Rare-diseases_840x1040_-1.jpg\">\n                        <\/div>\n                <\/div>\n                    <div class=\"col-12 col-md-8 text-wrapper order-1\">\n        <div class=\"title\">\n            <h2>Exploring the Uncommon World of <strong>Rare Diseases<\/strong><\/h2>\n        <\/div>\n                    <div class=\"description focus-description \">\n                <p>Rare diseases are caused by inherited or <em>de novo<\/em> genetic mutations and include cancers, metabolic diseases, cystic fibrosis, muscular dystrophy, cardiac arrhythmias, sickle cell anemia, and some forms of epilepsy. A rare disease affects fewer than 1-in-2,000 people (&lt; 200,000 people in USA) with over 6,000 rare diseases affecting 300 million people worldwide, with diagnosis increasing due to cheap and widespread genetic testing.<\/p>\n<p>Treatments include gene therapy or editing and faulty enzyme replacement. Rare diseases are also called orphan diseases as it can be slow and expensive to develop new drugs for very small patient populations.<\/p>\n            <\/div>\n            \n    <\/div>\n<\/div>\n\n<script>\n    jQuery(document).ready(function($){\n        jQuery('.read-more-section a[href^=\"tel:\"]').addClass('no-underline');\n\n        if($(document).width() <= 992){\n            let imgHeight = $(\"#readmore-2037862176 .image-wrapper >.box-img\").height();\n            readMoreSetMgB(imgHeight);\n        }else{\n            readMoreSetMgB(0);\n        }\n        $(window).resize(function(){\n            if($(document).width() <= 992){\n                let imgHeight = $(\"#readmore-2037862176 .image-wrapper >.box-img\").height();\n                readMoreSetMgB(imgHeight);\n            }else{\n                readMoreSetMgB(0);\n            }\n        })\n\n        function readMoreSetMgB(imgHeight){\n            \/*console.log('height '+imgHeight);*\/\n            if(imgHeight > 0){\n                $(\"#readmore-2037862176\").closest('.panel-grid').css('margin-bottom',(imgHeight)+'px');\n            }else{\n                $(\"#readmore-2037862176\").closest('.panel-grid').css('margin-bottom','');\n            }\n        }\n    });\n\n<\/script>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pg-14357-2\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-2-0\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><div id=\"pgc-14357-2-1\" class=\"panel-grid-cell\"><div id=\"panel-14357-2-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"2\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<h2><strong>Current diagnosis and treatments<\/strong><\/h2>\n<h2>for rare diseases<\/h2>\n<h2><\/h2>\n<\/div>\n<\/div><\/div><\/div><\/div><div id=\"pg-14357-3\" class=\"panel-grid panel-has-style\"><div class=\"panel-row-style panel-row-style-for-14357-3\"><div id=\"pgc-14357-3-0\" class=\"panel-grid-cell\"><div id=\"panel-14357-3-0-0\" class=\"so-panel widget widget_characters-max-header-widget panel-first-child panel-last-child\" data-index=\"3\"><div class=\"panel-widget-style panel-widget-style-for-14357-3-0-0\"><div class=\"so-widget-characters-max-header-widget so-widget-characters-max-header-widget-default-d75171398898-14357\"><div class=\"characters-max-header\">\n\t<h4 style=\"color: #77c2a1;font-weight: 700;\">Understanding rare diseases<\/h4><\/div><\/div><\/div><\/div><\/div><div id=\"pgc-14357-3-1\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-14357-3-1\"><div id=\"panel-14357-3-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"4\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>Mutations in ion channels can cause inherited ion channelopathies which underlie common or rare diseases. In general, the mutations can be loss or gain of function resulting in the clinical phenotype. Many rare diseases have few treatment options available, if any. Genetic treatments for rare diseases include exon-skipping small molecules and RNA drugs, as well as gene therapies to deliver replacement genes in viral vectors or correct faulty sequences using gene editing techniques (CRISPR, base, and prime editing). Faulty proteins can also be replaced (e.g. enzymes in Fabry, Gaucher, and Pompe disease) or their misfolding corrected with small molecules. Alternatively, pharmacological agents can be sought which selectively up or downregulate the action of the faulty protein and ion channels may hold the key to the treatment of at least some rare diseases. As rare diseases typically occur from birth and are diagnosed by genetic testing in young children, effective treatments have the potential to improve the quality and duration of life which offsets their high cost.<\/p>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><div id=\"pg-14357-4\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-4-0\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><div id=\"pgc-14357-4-1\" class=\"panel-grid-cell\"><div id=\"panel-14357-4-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"5\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<h2>Ion channels<\/h2>\n<h2>in <strong>rare diseases<\/strong><\/h2>\n<\/div>\n<\/div><\/div><\/div><\/div><div id=\"pg-14357-5\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-5-0\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-14357-5-0\"><div id=\"panel-14357-5-0-0\" class=\"so-panel widget widget_sow-headline panel-first-child panel-last-child\" data-index=\"6\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-14357-5-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-f63c946382f4-14357\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h4 class=\"sow-headline\">\n\t\t\t\t\t\tMutations in Na<sup>+<\/sup> channels in human arrhythmia and epilepsy syndromes\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-14357-5-1\" class=\"panel-grid-cell panel-grid-cell-mobile-last\"><div id=\"panel-14357-5-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child\" data-index=\"7\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>Brugada syndrome is a rare but potentially fatal cardiac arrhythmia disorder associated with sudden cardiac arrest and death in young adults. Loss-of-function (LOF) mutations in the SCN5A gene which encodes the cardiac voltage-gated sodium channel, Na<sub>V<\/sub>1.5, are the most common cause of Brugada syndrome, accounting for up to 30% of occurrences in Caucasians. Other LOF mutations in Ca<sub>V<\/sub>1.2 and TRPM4, and gain-of-function (GOF) mutations in voltage-gated potassium channels have also been identified.<\/p>\n<p>Dravet syndrome is a catastrophic and pharmacoresistant childhood epilepsy disorder which is characterized by the onset of epileptic seizures within the first year of life and is accompanied by cognitive impairment, ataxia, psychomotor regression, and autism. In most cases, Dravet syndrome is caused by a de novo loss-of-function mutation in the SCN1A gene which encodes the Na<sub>V<\/sub>1.1 ion channel. In the brain, Na<sub>V<\/sub>1.1 is primarily located in inhibitory and thus when Na<sub>V<\/sub>1.1 activity is reduced, this leads to a reduction in inhibitory neurotransmission and thus hyperexcitability in the CNS resulting in epileptic seizures. One potential treatment option would be to enhance the action of Na<sub>V<\/sub>1.1 and thus restore inhibitory neurotransmission.<\/p>\n<\/div>\n<\/div><\/div><div id=\"panel-14357-5-1-1\" class=\"so-panel widget widget_sow-image\" data-index=\"8\"><div class=\"so-widget-sow-image so-widget-sow-image-default-334eeca80698-14357\">\n<div class=\"sow-image-container\">\n\t\t<noscript><img src=\"https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper.png\" width=\"772\" height=\"471\" srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper.png 772w, https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper-300x183.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper-768x469.png 768w\" sizes=\"(max-width: 772px) 100vw, 772px\" alt class=\"so-widget-image\"><\/noscript><img src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%20772%20471%22%3E%3C%2Fsvg%3E\" width=\"772\" height=\"471\" srcset=\"data:image\/svg+xml,%3Csvg%20xmlns%3D%22http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg%22%20viewBox%3D%220%200%20772%20471%22%3E%3C%2Fsvg%3E 772w\" sizes=\"(max-width: 772px) 100vw, 772px\" alt class=\"so-widget-image lazyload\" data-srcset=\"https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper.png 772w, https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper-300x183.png 300w, https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper-768x469.png 768w\" data-src=\"https:\/\/nanion.com\/wp-content\/uploads\/2023\/02\/rare_diseases_Dravet_NaV11_Milligan-paper.png\">\n\t<\/div>\n\n<\/div><\/div><div id=\"panel-14357-5-1-2\" class=\"so-panel widget widget_sow-editor panel-last-child\" data-index=\"9\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>The spider venom peptide Hm1a enhanced peak amplitude and delayed fast inactivation of Na<sub>V<\/sub>1.1 and, with lower potency, Na<sub>V<\/sub>1.3 but not Na<sub>V<\/sub>1.2, 1.5 or 1.7 recorded on the <a href=\"\/products\/patchliner\/\">Patchliner<\/a>. This in turn rescues interneuron function in Dravet syndrome mice and may provide a viable therapeutic option to treat this epileptic condition.<\/p>\n<p><a href=\"https:\/\/www.pnas.org\/doi\/10.1073\/pnas.1804764115\" target=\"_blank\" rel=\"noopener\">Richards K.L, et al. PNAS. (2018)<\/a><\/p>\n<\/div>\n<\/div><\/div><\/div><div id=\"pgc-14357-5-2\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><\/div><div id=\"pg-14357-6\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-6-0\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-14357-6-0\"><div id=\"panel-14357-6-0-0\" class=\"so-panel widget widget_sow-headline panel-first-child panel-last-child\" data-index=\"10\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-14357-6-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-f63c946382f4-14357\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h4 class=\"sow-headline\">\n\t\t\t\t\t\tExamples of ion channels and transporters involved in rare diseases\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-14357-6-1\" class=\"panel-grid-cell panel-grid-cell-mobile-last\"><div id=\"panel-14357-6-1-0\" class=\"so-panel widget widget_specifications-theme-widget panel-first-child panel-last-child\" data-index=\"11\"><div class=\"so-widget-specifications-theme-widget so-widget-specifications-theme-widget-default-d75171398898-14357\">    <div class=\"specifications-list\">\n                    <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Brugada syndrome<\/div>\n                <div class=\"col-6 px-0 value\">Na<sub>V<\/sub>1.5, TRPM4, Ca<sub>V<\/sub>1.2, HCN4, hERG (K<sub>V<\/sub>11.1)<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Dravet syndrome<\/div>\n                <div class=\"col-6 px-0 value\">Na<sub>V<\/sub>1.1<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">SCN2A-related disorders<\/div>\n                <div class=\"col-6 px-0 value\">Na<sub>V<\/sub>1.2<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Timothy syndrome<\/div>\n                <div class=\"col-6 px-0 value\">Ca<sub>V<\/sub>1.2<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Cystic fibrosis<\/div>\n                <div class=\"col-6 px-0 value\">CFTR, TMEM16A<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Duchenne muscular dystrophy and myotonia congenita<\/div>\n                <div class=\"col-6 px-0 value\">ClC-1<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">CLCN4-related neurodevelopmental disorder (CLCN4-NDD)<\/div>\n                <div class=\"col-6 px-0 value\">CLC-4<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Sickle cell anemia<\/div>\n                <div class=\"col-6 px-0 value\">Gardos channel (SK4) and KCC transporter<\/div>\n            <\/div>\n                        <div class=\"row mx-0 specification-item\">\n                <div class=\"col-6 px-0 label\">Dent\u2019s disease type 1<\/div>\n                <div class=\"col-6 px-0 value\">CLC-5 (antiporter)<\/div>\n            <\/div>\n                <\/div>\n    <\/div><\/div><\/div><div id=\"pgc-14357-6-2\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><\/div><div id=\"pg-14357-7\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-7-0\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-14357-7-0\"><div id=\"panel-14357-7-0-0\" class=\"so-panel widget widget_sow-headline panel-first-child panel-last-child\" data-index=\"12\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-14357-7-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-bbe763b66c88-14357\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h4 class=\"sow-headline\">\n\t\t\t\t\t\tAn example of rare diseases: Decoding CLCN4\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-14357-7-1\" class=\"panel-grid-cell panel-grid-cell-mobile-last\"><div id=\"panel-14357-7-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"13\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>CLCN4-related conditions are&nbsp;exceptionally rare, affecting just over&nbsp;120 individuals worldwide&nbsp;with a&nbsp;CLCN4 gene change. The&nbsp;CLCN4 gene&nbsp;encodes the&nbsp;CLC-4 protein, a&nbsp;Cl-\/H+ exchanger&nbsp;primarily expressed in the brain and skeletal muscle. Within intracellular organelles, the CLC-4 protein plays a crucial role in&nbsp;ion homeostasis of endosomes&nbsp;and&nbsp;intracellular trafficking.<\/p>\n<p>Learn more about <a href=\"\/understanding-clcn4\/\">CLCN4-related conditions.<\/a><\/p>\n<\/div>\n<\/div><\/div><\/div><div id=\"pgc-14357-7-2\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><\/div><div id=\"pg-14357-8\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-8-0\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><div id=\"pgc-14357-8-1\" class=\"panel-grid-cell\"><div id=\"panel-14357-8-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"14\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<h2><strong>Assay platforms <\/strong>for<\/h2>\n<h2>rare disease research<\/h2>\n<\/div>\n<\/div><\/div><\/div><\/div><div id=\"pg-14357-9\" class=\"panel-grid panel-no-style\"><div id=\"pgc-14357-9-0\" class=\"panel-grid-cell\"><div class=\"panel-cell-style panel-cell-style-for-14357-9-0\"><div id=\"panel-14357-9-0-0\" class=\"so-panel widget widget_sow-headline panel-first-child panel-last-child\" data-index=\"15\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-14357-9-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-f63c946382f4-14357\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h4 class=\"sow-headline\">\n\t\t\t\t\t\tAutomated patch clamp,<br> transporter assays and bilayers\t\t\t\t\t\t<\/h4>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-14357-9-1\" class=\"panel-grid-cell panel-grid-cell-mobile-last\"><div id=\"panel-14357-9-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child\" data-index=\"16\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>Automated patch clamp platforms are well suited to study ion channels involved in rare diseases. Na<sub>V<\/sub> channels can be recorded using the <a href=\"\/products\/port-a-patch\/\">Port-a-Patch<\/a>, <a href=\"\/products\/patchliner\/\">Patchliner<\/a> and <a href=\"\/products\/syncropatch-384\/\">SyncroPatch 384<\/a>, to investigate the functional effect of genetic variants and potentially corrective pharmacological agents. Red blood cells can be used on the devices to investigate the effects of ion channels in disorders affecting these cells.<\/p>\n<p>Transporters involved in rare diseases can be recorded on the <a href=\"\/products\/surfe2r-n1\/\">SURFE<sup>2<\/sup>R N1<\/a> and at higher throughput on the <a href=\"\/products\/surfer-96se\/\">SURFE<sup>2<\/sup>R 96<\/a> instruments and ion channels can be reconstituted into bilayers and recorded on the <a href=\"\/products\/orbit-mini\/\">Orbit mini<\/a> and<a href=\"\/products\/orbit-16-tc\/\"> Orbit 16 TC<\/a>. Human iPSC-derived cardiomyocytes can be recorded on the <a href=\"\/products\/cardioexcyte-96\/\">CardioExcyte 96<\/a> and <a href=\"\/products\/flexcyte-96\/\">FLEXcyte 96<\/a> to investigate the effects of mutations on cardiomyocyte contractility and morphology.<\/p>\n<\/div>\n<\/div><\/div><div id=\"panel-14357-9-1-1\" class=\"so-panel widget widget_sow-button panel-last-child\" data-index=\"17\"><div class=\"so-widget-sow-button so-widget-sow-button-flat-10f3526e3813-14357\"><div class=\"ow-button-base ow-button-align-left\">\n\t\t\t<a href=\"\/resources\/target-database\/\" class=\"btn-primary sowb-button ow-icon-placement-left ow-button-hover\">\n\t\t<span>\n\t\t\t\n\t\t\tTarget database\t\t<\/span>\n\t\t\t<\/a>\n\t<\/div>\n<\/div><\/div><\/div><div id=\"pgc-14357-9-2\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><\/div><div id=\"pg-14357-10\" class=\"panel-grid panel-has-style\"><div class=\"bg-left panel-row-style panel-row-style-for-14357-10\"><div id=\"pgc-14357-10-0\" class=\"panel-grid-cell\"><div id=\"panel-14357-10-0-0\" class=\"so-panel widget widget_siteorigin-panels-builder panel-first-child panel-last-child\" data-index=\"18\"><div id=\"pl-w6787ab49b3799\" class=\"panel-layout\"><div id=\"pg-w6787ab49b3799-0\" class=\"panel-grid panel-has-style\"><div class=\"panel-row-style panel-row-style-for-w6787ab49b3799-0\"><div id=\"pgc-w6787ab49b3799-0-0\" class=\"panel-grid-cell\"><div id=\"panel-w6787ab49b3799-0-0-0\" class=\"so-panel widget widget_sow-headline panel-first-child panel-last-child\" data-index=\"0\"><div class=\"all-font-bold panel-widget-style panel-widget-style-for-w6787ab49b3799-0-0-0\"><div class=\"so-widget-sow-headline so-widget-sow-headline-default-087580a7c05b\"><div class=\"sow-headline-container \">\n\t\t\t\t\t\t\t<h2 class=\"sow-headline\">\n\t\t\t\t\t\tHow can we  help you?\t\t\t\t\t\t<\/h2>\n\t\t\t\t\t\t<\/div>\n<\/div><\/div><\/div><\/div><div id=\"pgc-w6787ab49b3799-0-1\" class=\"panel-grid-cell panel-grid-cell-empty panel-grid-cell-mobile-last\"><\/div><div id=\"pgc-w6787ab49b3799-0-2\" class=\"panel-grid-cell panel-grid-cell-empty\"><\/div><\/div><\/div><div id=\"pg-w6787ab49b3799-1\" class=\"panel-grid panel-has-style\"><div class=\"panel-row-style panel-row-style-for-w6787ab49b3799-1\"><div id=\"pgc-w6787ab49b3799-1-0\" class=\"panel-grid-cell\"><div class=\"tablet-50 panel-cell-style panel-cell-style-for-w6787ab49b3799-1-0\"><div id=\"panel-w6787ab49b3799-1-0-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"1\"><div class=\"panel-widget-style panel-widget-style-for-w6787ab49b3799-1-0-0\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p>Contact our specialist Dr. Alison Obergrussberger (Director of Scientific Sales and Customer Engagement). Alison is delighted to help you:<\/p>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-w6787ab49b3799-1-1\" class=\"panel-grid-cell\"><div class=\"tablet-50 panel-cell-style panel-cell-style-for-w6787ab49b3799-1-1\"><div id=\"panel-w6787ab49b3799-1-1-0\" class=\"so-panel widget widget_sow-editor panel-first-child panel-last-child\" data-index=\"2\"><div class=\"panel-widget-style panel-widget-style-for-w6787ab49b3799-1-1-0\"><div class=\"so-widget-sow-editor so-widget-sow-editor-base\">\n<div class=\"siteorigin-widget-tinymce textwidget\">\n\t<p><strong><a href=\"mailto:Ali.Obergrussberger@nanion.de\">Ali.Obergrussberger@nanion.de<br>\n<\/a><\/strong><br>\nor call:&nbsp;<strong>+49 89 2190 95-078<\/strong><br>\nor connect via&nbsp;<strong><a href=\"https:\/\/www.linkedin.com\/in\/ali-obergrussberger-89ba8710\/\" target=\"_blank\" rel=\"noopener\">LinkedIn<\/a><\/strong><\/p>\n<\/div>\n<\/div><\/div><\/div><\/div><\/div><div id=\"pgc-w6787ab49b3799-1-2\" 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});\n<\/script><\/div><\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"<p>Rare diseases Mutations affecting critical proteins. Exploring the Uncommon World of Rare Diseases Rare diseas [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":14350,"menu_order":35,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-14357","page","type-page","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/pages\/14357","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/comments?post=14357"}],"version-history":[{"count":5,"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/pages\/14357\/revisions"}],"predecessor-version":[{"id":18517,"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/pages\/14357\/revisions\/18517"}],"up":[{"embeddable":true,"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/pages\/14350"}],"wp:attachment":[{"href":"https:\/\/nanion.com\/ja\/wp-json\/wp\/v2\/media?parent=14357"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}