{"id":1477,"date":"2025-03-20T20:25:23","date_gmt":"2025-03-20T20:25:23","guid":{"rendered":"https:\/\/lab.research.sickkids.ca\/cangard\/?page_id=1477"},"modified":"2025-11-17T13:59:51","modified_gmt":"2025-11-17T13:59:51","slug":"rare-disease-day-2025-2","status":"publish","type":"page","link":"https:\/\/lab.research.sickkids.ca\/cangard\/events\/rare-disease-day-2025-2\/","title":{"rendered":"Rare Disease Day 2025"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column]<div id=\"ult-carousel-420525581469e5ae5f8e882\" class=\"ult-carousel-wrapper   ult_full_width\" data-gutter=\"0\" data-rtl=\"false\" ><div class=\"ult-carousel-144905912169e5ae5f8e697 \" >[vc_single_image image=&#8221;1540&#8243; img_size=&#8221;full&#8221; alignment=&#8221;center&#8221;][vc_single_image image=&#8221;1541&#8243; img_size=&#8221;full&#8221;][vc_single_image image=&#8221;1542&#8243; img_size=&#8221;full&#8221;][vc_single_image image=&#8221;1546&#8243; img_size=&#8221;full&#8221;][vc_single_image image=&#8221;1547&#8243; 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img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221;][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row][vc_column css=&#8221;.vc_custom_1742414092216{background-color: #eaeaea !important;}&#8221;]<div id=\"ultimate-heading-202369e5ae5f8e8e6\" class=\"uvc-heading ult-adjust-bottom-margin ultimate-heading-202369e5ae5f8e8e6 uvc-447  uvc-heading-default-font-sizes\" data-hspacer=\"no_spacer\"  data-halign=\"center\" style=\"text-align:center\"><div class=\"uvc-heading-spacer no_spacer\" style=\"top\"><\/div><div class=\"uvc-main-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-202369e5ae5f8e8e6 h2'  data-responsive-json-new='{\"font-size\":\"\",\"line-height\":\"\"}' ><h2 style=\"text-decoration:underline;--font-weight:theme;color:#0a0889;\">Poster Presentation Winners<\/h2><\/div><\/div>[vc_row_inner content_placement=&#8221;top&#8221;][vc_column_inner]<div class=\"dt-fancy-separator h2-size accent-title-color accent-border-color\" style=\"width: 100%;\"><div class=\"dt-fancy-title\"><span class=\"separator-holder separator-left\"><\/span>Research Category<span class=\"separator-holder separator-right\"><\/span><\/div><\/div>[\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1482&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221; title=&#8221;Winner&#8221;][vc_column_text]<\/p>\n<p style=\"text-align: center\"><em>Identification and characterization of genome-wide tandem repeat expansions in mlanoma<\/em><\/p>\n<p style=\"text-align: center\"><strong>Celine Salhab<\/strong><\/p>\n<p style=\"text-align: center\">Graduate Student &#8211; M.Sc. Candidate<\/p>\n<p style=\"text-align: center\">Yuen Lab<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1485&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221; title=&#8221;Runner Up&#8221;][vc_column_text]<\/p>\n<p style=\"text-align: center\"><em>A DNA methylation signature for Claes-Jensen syndrome:\u00a0<\/em><\/p>\n<p style=\"text-align: center\"><em>Diagnostic Insights into KDM5C variants<\/em><\/p>\n<p style=\"text-align: center\"><strong>Mengqi Wang, PhD<\/strong><\/p>\n<p style=\"text-align: center\">Research Fellow<\/p>\n<p style=\"text-align: center\">Weksberg Lab<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner]<div class=\"dt-fancy-separator h2-size accent-title-color accent-border-color\" style=\"width: 100%;\"><div class=\"dt-fancy-title\"><span class=\"separator-holder separator-left\"><\/span>Clinical \/ Translational Category<span class=\"separator-holder separator-right\"><\/span><\/div><\/div>[vc_column_text]<\/p>\n<h2 style=\"text-align: center\">Winners (2 way tie)<\/h2>\n<p>[\/vc_column_text][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1481&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221;][vc_column_text]<\/p>\n<p style=\"text-align: center\"><em>Transitions from Pediatric to Adult Care in Adolescents &amp; Young Adults <\/em><em>Living with Rare Disease: A scoping review protocol<\/em><\/p>\n<p style=\"text-align: center\"><strong>Sarah Lopes Sadafi<\/strong><\/p>\n<p style=\"text-align: center\">Clinical Research Assistant<\/p>\n<p style=\"text-align: center\">Battish &amp; Beattie Labs<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1488&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221;][vc_column_text]<\/p>\n<p style=\"text-align: center\"><i>Increasing Epilepsy-Related Diagnostic Yield from Short-Read Rapid Genome Sequencing<\/i><\/p>\n<p style=\"text-align: center\"><strong>Jimmy Nguyen<\/strong><\/p>\n<p style=\"text-align: center\">Graduate Student &#8211; M.Sc. Candidate<\/p>\n<p style=\"text-align: center\">Costain Lab<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row][vc_column css=&#8221;.vc_custom_1742414092216{background-color: #eaeaea !important;}&#8221;]<div id=\"ultimate-heading-30869e5ae5f8e965\" class=\"uvc-heading ult-adjust-bottom-margin ultimate-heading-30869e5ae5f8e965 uvc-8849  uvc-heading-default-font-sizes\" data-hspacer=\"no_spacer\"  data-halign=\"center\" style=\"text-align:center\"><div class=\"uvc-heading-spacer no_spacer\" style=\"top\"><\/div><div class=\"uvc-main-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-30869e5ae5f8e965 h2'  data-responsive-json-new='{\"font-size\":\"\",\"line-height\":\"\"}' ><h2 style=\"text-decoration:underline;--font-weight:theme;color:#0a0889;\">Oral Presentation Winners<\/h2><\/div><\/div>[vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1491&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221; title=&#8221;Winner&#8221;][vc_column_text]<\/p>\n<p style=\"text-align: center\" data-ccp-props=\"{&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559683&quot;:0,&quot;335559685&quot;:0,&quot;335559731&quot;:0,&quot;335559737&quot;:0,&quot;335562764&quot;:2,&quot;335562765&quot;:1,&quot;335562766&quot;:4,&quot;335562767&quot;:0,&quot;335562768&quot;:4,&quot;335562769&quot;:0}\"><i><span data-usefontface=\"true\" data-contrast=\"none\">Developing an approach to screening rare <\/span><\/i><\/p>\n<p style=\"text-align: center\" data-ccp-props=\"{&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559683&quot;:0,&quot;335559685&quot;:0,&quot;335559731&quot;:0,&quot;335559737&quot;:0,&quot;335562764&quot;:2,&quot;335562765&quot;:1,&quot;335562766&quot;:4,&quot;335562767&quot;:0,&quot;335562768&quot;:4,&quot;335562769&quot;:0}\"><i><span data-usefontface=\"true\" data-contrast=\"none\">genetic diagnoses for\u00a0<\/span><\/i><i><span data-usefontface=\"true\" data-contrast=\"none\">amenability to bespoke antisense<\/span><\/i><\/p>\n<p style=\"text-align: center\" data-ccp-props=\"{&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559683&quot;:0,&quot;335559685&quot;:0,&quot;335559731&quot;:0,&quot;335559737&quot;:0,&quot;335562764&quot;:2,&quot;335562765&quot;:1,&quot;335562766&quot;:4,&quot;335562767&quot;:0,&quot;335562768&quot;:4,&quot;335562769&quot;:0}\"><i><span data-usefontface=\"true\" data-contrast=\"none\"> oligonucleotide therapy development\u00a0<\/span><\/i>\u200b<\/p>\n<p style=\"text-align: center\" data-ccp-props=\"{&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559683&quot;:0,&quot;335559685&quot;:0,&quot;335559731&quot;:0,&quot;335559737&quot;:0,&quot;335562764&quot;:2,&quot;335562765&quot;:1,&quot;335562766&quot;:4,&quot;335562767&quot;:0,&quot;335562768&quot;:4,&quot;335562769&quot;:0}\"><strong>\u200bDavid\u00a0Cheerie<\/strong>\u200b<\/p>\n<p style=\"text-align: center\" data-ccp-props=\"{&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559683&quot;:0,&quot;335559685&quot;:0,&quot;335559731&quot;:0,&quot;335559737&quot;:0,&quot;335562764&quot;:2,&quot;335562765&quot;:1,&quot;335562766&quot;:4,&quot;335562767&quot;:0,&quot;335562768&quot;:4,&quot;335562769&quot;:0}\"><span data-usefontface=\"true\" data-contrast=\"none\">Clinical Research Project Manager<\/span><\/p>\n<p style=\"text-align: center\" data-ccp-props=\"{&quot;335551550&quot;:2,&quot;335551620&quot;:2,&quot;335559683&quot;:0,&quot;335559685&quot;:0,&quot;335559731&quot;:0,&quot;335559737&quot;:0,&quot;335562764&quot;:2,&quot;335562765&quot;:1,&quot;335562766&quot;:4,&quot;335562767&quot;:0,&quot;335562768&quot;:4,&quot;335562769&quot;:0}\">Costain Lab\u200b<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1492&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221; title=&#8221;Runner Up&#8221;][vc_column_text]<\/p>\n<p style=\"text-align: center\"><i>Single-vector base editing rescues a nonsense variant in a humanized mouse model of Duchenne muscular dystrophy<\/i><\/p>\n<p style=\"text-align: center\"><strong>Ryan Marks<\/strong><\/p>\n<p style=\"text-align: center\">Graduate Student &#8211; PhD Candidate<\/p>\n<p style=\"text-align: center\">Ivakine &amp; Cohn Labs<\/p>\n<p>[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row][vc_column][vc_single_image image=&#8221;1494&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221;][\/vc_column][\/vc_row][vc_row][vc_column]<div class=\"ult-spacer spacer-69e5ae5f8e987\" data-id=\"69e5ae5f8e987\" data-height=\"40\" data-height-mobile=\"40\" data-height-tab=\"40\" data-height-tab-portrait=\"\" data-height-mobile-landscape=\"\" style=\"clear:both;display:block;\"><\/div>[vc_column_text]<\/p>\n<h1 style=\"text-align: center\"><span style=\"color: #993366\">A big <strong>THANK YOU <\/strong>to our sponsors<\/span><\/h1>\n<p>[\/vc_column_text]<div class=\"ult-spacer spacer-69e5ae5f8e991\" data-id=\"69e5ae5f8e991\" data-height=\"40\" data-height-mobile=\"40\" data-height-tab=\"40\" data-height-tab-portrait=\"\" data-height-mobile-landscape=\"\" style=\"clear:both;display:block;\"><\/div>[vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1497&#8243; 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Looking forward to next year! [\/vc_column_text][vc_row_inner][vc_column_inner][vc_single_image image=&#8221;1493&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221;][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row][vc_column css=&#8221;.vc_custom_1742414092216{background-color: #eaeaea !important;}&#8221;][vc_row_inner content_placement=&#8221;top&#8221;][vc_column_inner][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1482&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221; title=&#8221;Winner&#8221;][vc_column_text] Identification and characterization of genome-wide tandem repeat expansions in mlanoma Celine Salhab Graduate Student &#8211; M.Sc. Candidate Yuen Lab [\/vc_column_text][\/vc_column_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1485&#8243;&hellip;<\/p>\n","protected":false},"author":142,"featured_media":0,"parent":93,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1477","page","type-page","status-publish","hentry","description-off"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.0 (Yoast SEO v27.0) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Rare Disease Day 2025 - Can-GARD<\/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:\/\/lab.research.sickkids.ca\/cangard\/events\/rare-disease-day-2025-2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Rare Disease Day 2025\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column][vc_column_text] Thank you to everyone who helped make SickKids Rare Disease Day 2025 a success! 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Looking forward to next year! [\/vc_column_text][vc_row_inner][vc_column_inner][vc_single_image image=&#8221;1493&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221;][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row][vc_row][vc_column css=&#8221;.vc_custom_1742414092216{background-color: #eaeaea !important;}&#8221;][vc_row_inner content_placement=&#8221;top&#8221;][vc_column_inner][\/vc_column_inner][\/vc_row_inner][vc_row_inner][vc_column_inner width=&#8221;1\/2&#8243;][vc_single_image image=&#8221;1482&#8243; img_size=&#8221;medium&#8221; alignment=&#8221;center&#8221; title=&#8221;Winner&#8221;][vc_column_text] Identification and characterization of genome-wide tandem repeat expansions in mlanoma Celine Salhab Graduate Student &#8211; M.Sc. 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