{"id":8135,"date":"2023-02-27T09:22:30","date_gmt":"2023-02-27T09:22:30","guid":{"rendered":"https:\/\/www.healthnews.ie\/?p=8135"},"modified":"2023-03-02T09:22:39","modified_gmt":"2023-03-02T09:22:39","slug":"empowering-rare-disease-communities-and-pioneers-to-strengthen-research","status":"publish","type":"post","link":"https:\/\/www.healthnews.ie\/rare-diseases\/empowering-rare-disease-communities-and-pioneers-to-strengthen-research\/","title":{"rendered":"Empowering rare disease communities and pioneers to strengthen research"},"content":{"rendered":"\n<div style=\"background-color:#f2f2f2;color:#32373c\" class=\"wp-block-atomic-blocks-ab-profile-box square ab-font-size-14 ab-block-profile ab-profile-columns\"><div class=\"ab-profile-column ab-profile-content-wrap\"><h2 class=\"ab-profile-name\" style=\"color:#32373c\">Professor Amy Jayne McKnight (pictured above)<\/h2><p class=\"ab-profile-title\" style=\"color:#32373c\">Professor of Molecular Epidemiology and Public Health; Director of Postgraduate Research; Rare Disease Research Lead; Co-Lead for RAiN, Centre for Public Health, Queen\u2019s University Belfast<\/p><div class=\"ab-profile-text\"><\/div><ul class=\"ab-social-links\"><\/ul><\/div><\/div>\n\n\n\n<p><em><a href=\"https:\/\/www.qub.ac.uk\/sites\/RareDisease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Rare diseases<\/a> receive much less recognition and support than more common diseases, with patients and caregivers living with significant unmet health and social care needs.<\/em><\/p>\n\n\n\n<hr class=\"wp-block-separator\"\/>\n\n\n\n<p>Today, we are working towards better registration of rare diseases, using new genetic tests and artificial intelligence to improve diagnosis and care pathways, improving access to orphan drugs and developing new approaches to practically support patients and their families.&nbsp;<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p>Most of the rare disease research <br>conducted in Northern Ireland (NI) <br>is initiated and\/or driven by families.<\/p><\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-supporting-rare-disease-communities\"><strong>Supporting rare disease communities<\/strong>&nbsp;<\/h2>\n\n\n\n<p>Most of the rare disease research conducted in Northern Ireland (NI) is initiated and\/or driven by families. I\u2019m delighted our <a href=\"https:\/\/www.qub.ac.uk\/sites\/RareDisease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Raising Awareness of Rare Diseases Throughout All Communities (RARDTAC)<\/a> team have been able to support so many projects that bring direct positive impacts to patients and the healthcare teams who support them. <br><br>This RARDTAC team has won impressive awards for their endeavours, often going above and beyond to deliver improvements on a very limited budget.\u202fExamples include introducing new laboratory tests to accelerate rare disease diagnosis, developing clinical decision support tools and providing an evidence base to help change clinical care practices. &nbsp;<\/p>\n\n\n\n<p>However, there is still work to be done. Most actions in the NI rare disease plan 2022\u201323 were derived from our collaborative research, working in partnership with diverse stakeholders, including voices from people living with rare diseases at the forefront. &nbsp;<\/p>\n\n\n<script type=\"text\/plain\" data-tcf=\"waiting-for-consent\" data-id=\"8151\" data-bid=\"94\" data-no-track=\"impressions\">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<\/script>\n\n\n<h2 class=\"wp-block-heading\"><strong>Rare disease research network<\/strong>&nbsp;<\/h2>\n\n\n\n<p>After many years in development, I am delighted to launch a funded cross-border research network with my colleague Dr Suja Somanadhan (University College Dublin), bringing hope to families living with rare disease(s) that collaborative efforts are raising awareness. &nbsp;<\/p>\n\n\n\n<p>This All-Ireland Rare Disease Interdisciplinary Research Network (RAiN) will strengthen effective links between researchers, industry, government, local authority, charity, patient and caregiver partners across Ireland. &nbsp;<\/p>\n\n\n\n<p>As Director of postgraduate research for the School of Medicine, Dentistry and Biomedical Sciences at QUB, I\u2019m acutely aware we need to train the next generation of doctors, nurses, biomedical scientists and researchers to continue driving forward progress for people living and working with rare diseases across Ireland.&nbsp;<\/p>\n\n\n\n<p>Compelled by necessity, the <a href=\"https:\/\/www.qub.ac.uk\/sites\/RareDisease\/\" target=\"_blank\" rel=\"noreferrer noopener\">rare disease community<\/a> consists of pioneers developing creative and innovative health and social care transformations.&nbsp;<\/p>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210443\/Rain-Logo-FLAT_HighContrast_2-1.jpg\" alt=\"\" class=\"wp-image-8181\" width=\"312\" height=\"323\" srcset=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210443\/Rain-Logo-FLAT_HighContrast_2-1.jpg 990w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210443\/Rain-Logo-FLAT_HighContrast_2-1-768x796.jpg 768w\" sizes=\"auto, (max-width: 312px) 100vw, 312px\" \/><\/figure><\/div>\n\n\n\n<div class=\"wp-block-image\"><figure class=\"aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210447\/RARDTAClogowithQUB_text_AJ_040223.jpg\" alt=\"\" class=\"wp-image-8141\" width=\"431\" height=\"254\" srcset=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210447\/RARDTAClogowithQUB_text_AJ_040223.jpg 1609w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210447\/RARDTAClogowithQUB_text_AJ_040223-768x453.jpg 768w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210447\/RARDTAClogowithQUB_text_AJ_040223-1536x906.jpg 1536w\" sizes=\"auto, (max-width: 431px) 100vw, 431px\" \/><\/figure><\/div>\n\n\n\n<div style=\"color:#32373c;background-color:#b82557\" class=\"wp-block-atomic-blocks-ab-notice ab-font-size-16 ab-block-notice\" data-id=\"5e5432\"><div class=\"ab-notice-text\" style=\"border-color:#b82557\"><p>Get in touch at <a href=\"mailto:raredisease@qub.ac.uk\" target=\"_blank\" rel=\"noreferrer noopener\">raredisease@qub.ac.uk<\/a> \u00a0<\/p><p><a href=\"https:\/\/www.qub.ac.uk\/sites\/RareDisease\/\" target=\"_blank\" rel=\"noreferrer noopener\">Rare Disease Focus: supporting rare disease throughout all communities | QUB<\/a>\u00a0<\/p><\/div><\/div>\n\n\n<!DOCTYPE html PUBLIC \"-\/\/W3C\/\/DTD HTML 4.0 Transitional\/\/EN\" \"http:\/\/www.w3.org\/TR\/REC-html40\/loose.dtd\">\n<html><body><div style=\"text-align:center\" class=\"wp-block-atomic-blocks-ab-button ab-block-button\"><a href=\"https:\/\/www.qub.ac.uk\/sites\/RareDisease\/\" target=\"_blank\" rel=\"noopener noreferrer\" class=\"ab-button ab-button-shape-rounded ab-button-size-medium fb-pixel\" style=\"color:#ffffff;background-color:#2bb460\">Click here to learn more<\/a><\/div>\n<\/body><\/html>\n","protected":false},"excerpt":{"rendered":"<p>Rare diseases receive much less recognition and support than more common diseases, with patients and caregivers living with significant unmet health and social care needs. Today, we are working towards better registration of rare diseases, using new genetic tests and artificial intelligence to improve diagnosis and care pathways, improving access to orphan drugs and developing &hellip; <a href=\"https:\/\/www.healthnews.ie\/rare-diseases\/empowering-rare-disease-communities-and-pioneers-to-strengthen-research\/\">Continued<\/a><\/p>\n","protected":false},"author":91,"featured_media":8136,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[5778],"tags":[5779],"class_list":["post-8135","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases","tag-rare-diseases-q1-2023"],"acf":[],"featured_image_src":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210448\/qub-Molecular-Epidemiology-117-600x400.jpg","featured_image_src_square":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2023\/02\/07210448\/qub-Molecular-Epidemiology-117-600x600.jpg","author_info":{"display_name":"henryphillips","author_link":"https:\/\/www.healthnews.ie\/author\/henryphillips\/"},"vicky_index_order":"","_links":{"self":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8135","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/users\/91"}],"replies":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/comments?post=8135"}],"version-history":[{"count":18,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8135\/revisions"}],"predecessor-version":[{"id":8238,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/8135\/revisions\/8238"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media\/8136"}],"wp:attachment":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media?parent=8135"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/categories?post=8135"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/tags?post=8135"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}