{"id":281538,"date":"2025-10-14T12:17:26","date_gmt":"2025-10-14T16:17:26","guid":{"rendered":"https:\/\/rarediseases.org\/?p=281538"},"modified":"2025-12-02T15:41:27","modified_gmt":"2025-12-02T20:41:27","slug":"nord-breakthrough-summit-features-bold-new-ideas-for-the-future-of-rare-disease-care-policy-and-research","status":"publish","type":"post","link":"https:\/\/rarediseases.org\/es\/nord-breakthrough-summit-features-bold-new-ideas-for-the-future-of-rare-disease-care-policy-and-research\/","title":{"rendered":"NORD Breakthrough Summit Features Bold New Ideas for the Future of Rare Disease Care, Policy and Research"},"content":{"rendered":"<p style=\"text-align: center;\"><em data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"em\">Lightning round poster presentations highlight cutting-edge insights on issues ranging from Medicaid coverage disparities to real-world data innovation<\/em><\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\" data-pm-slice=\"1 1 []\">The future of rare disease advancements will take center stage at the National Organization for Rare Disorders (NORD<sup>\u00ae<\/sup>) <a href=\"https:\/\/nordsummit.org\/\" target=\"_blank\" rel=\"noopener nofollow\">Rare Disease and Orphan Products Breakthrough Summit<sup>\u00ae<\/sup><\/a>, Oct. 19-21 in Washington.<\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">NORD is proud to announce the top researchers selected for the <strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Lightning Rounds Poster Presentations<\/strong> session. Chosen from a competitive field of submissions by academics, researchers, industry, government agencies, health care professionals, patient organizations, and students, the winning posters represent the forefront of innovation and advocacy in the rare disease space.<\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-281539\" src=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1922-social-media-1024x683.jpg\" alt=\"Photo of Lightning Round Presenter at last year's Summit\" width=\"600\" height=\"400\" srcset=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1922-social-media-1024x683.jpg 1024w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1922-social-media-300x200.jpg 300w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1922-social-media-768x512.jpg 768w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1922-social-media-1536x1024.jpg 1536w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1922-social-media-2048x1366.jpg 2048w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/p>\n<p>The Lightning Rounds Poster Presentations, slated for Oct. 20, are a highlight of the annual NORD Breakthrough Summit. This year\u2019s selections reflect urgent and evolving priorities for the rare disease community, from addressing systemic barriers to genetic testing and harnessing real-world data for faster therapeutic discovery to creating collaborative care models that place patients at the center of innovation.<\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">\u201cThese seven posters demonstrate what\u2019s possible when research, policy, and advocacy come together with a shared commitment to innovation and patient empowerment,\u201d said <strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Pamela K. Gavin, NORD Chief Executive Officer<\/strong>. \u201cWe\u2019re proud to showcase such forward-thinking work at the NORD Breakthrough Summit and look forward to seeing how these insights drive collaboration and change for the rare disease community.\u201d<\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">The winning posters and their authors are:<\/p>\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Partnering for Education at a Turning Point in the Desmoid Tumor Landscape <\/strong>(Presenting Author: Tariqa Ackbarali, PhD, CHCP, <a href=\"https:\/\/www.medlive.com\/nord\" target=\"_blank\" rel=\"noopener nofollow\">Medlive<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">This case study explores the power of partnership through a collaboration among Medlive, NORD, and the <a href=\"https:\/\/dtrf.org\/\" target=\"_blank\" rel=\"noopener nofollow\">Desmoid Tumor Research Foundation<\/a> to provide free, accredited, digital education. The outcomes revealed the impact on clinical teams, improving their ability to diagnose and treat <a href=\"https:\/\/rarediseases.org\/rare-diseases\/desmoid-tumor\/\">desmoid tumors<\/a>.<\/li>\n<\/ul>\n<\/li>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">The Castleman Disease Expert Panel: A Collaborative Model That Could Be Replicated to Improve Clinical Outcomes for Rare Disease Patients <\/strong>(Presenting Author: Madison Ahearn, BS, MHA, <a href=\"http:\/\/castlemannetwork.org\/\" target=\"_blank\" rel=\"noopener nofollow\">Castleman Disease Collaborative Network<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">This presentation explores how an expert panel was developed to assist physicians in improving diagnosis, treatment, and overall patient care for <a href=\"https:\/\/rarediseases.org\/rare-diseases\/castlemans-disease\/\">Castleman disease<\/a> through open, discussion-based reviews of complex cases, while demonstrating a scalable model to improve outcomes across other rare diseases.<\/li>\n<\/ul>\n<\/li>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Accelerating Rare Disease Discovery: Leveraging Real-World Data for Phenotypic Characterization and Therapeutic Target Identification <\/strong>(Presenting Author: Sanjay Ahuja, PhD, <a href=\"https:\/\/regalintel.com\/\" target=\"_blank\" rel=\"noopener nofollow\">Regal Intel<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">Real-world data captured via electronic health records, patient registries, insurance claims, and more holds the key to accelerating the discovery and development of much-needed orphan products, this study concludes.<\/li>\n<\/ul>\n<\/li>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Medicaid Coverage Gaps in Genetic Testing Lead to Health Disparities for Rare Disease <\/strong>(Presenting Author: Shannon Belmont, MPH, JM, <a href=\"https:\/\/www.genedx.com\/\" target=\"_blank\" rel=\"noopener nofollow\">GeneDx<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">This study reveals a \u201csignificant and persistent disparity\u201d in access to outpatient exome and genome sequencing between individuals with commercial insurance and those covered by Medicaid. Since rare disease diagnoses already take years, these gaps may further delay diagnosis and treatment for medically underserved and vulnerable populations.<\/li>\n<\/ul>\n<\/li>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Streamlining Patient Engagement in Rare Disease: A Multi-Sponsor Advisory Panel Pilot <\/strong>(Presenting Author: Shana Dodge, PhD, <a href=\"https:\/\/www.theaftd.org\/\" target=\"_blank\" rel=\"noopener nofollow\">The Association for Frontotemporal Degeneration<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">This pilot program brought together multiple companies to co-sponsor an advisory panel led by a patient advocacy organization, designed to efficiently gather insights from people affected by <a href=\"https:\/\/rarediseases.org\/rare-diseases\/frontotemporal-degeneration\/\">frontotemporal degeneration<\/a> (FTD). The initiative streamlines input from a small patient population, reduces burden on individuals, and ensures clinical research reflects the real-world priorities of those living with FTD.<\/li>\n<\/ul>\n<\/li>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Quantifying Health Benefits of Orphan Drugs <\/strong>(Presenting Author: Genevieve Lyons, MSc, <a href=\"https:\/\/alexion.com\/\" target=\"_blank\" rel=\"noopener nofollow\">Alexion, AstraZeneca Rare Disease<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">This study finds that orphan drugs, especially those with single or multiple rare disease indications, offer significantly greater health benefits than non-orphan drugs, highlighting the importance of informed policymaking that incentivizes scientific innovation.<\/li>\n<\/ul>\n<\/li>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Spotlight on Familial Chylomicronemia Syndrome (FCS): Leveraging the Power of Individual Journeys Toward Collective Action\u2014Voice of the Patient Paper <\/strong>(Presenting Author: Alexandra Roeser, <a href=\"https:\/\/arrowheadpharma.com\/\" target=\"_blank\" rel=\"noopener nofollow\">Arrowhead Pharmaceuticals<\/a>)\n<ul>\n<li data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">To better understand the lived experience of those affected by <a href=\"https:\/\/rarediseases.org\/rare-diseases\/familial-chylomicronemia-syndrome\/\">familial chylomicronemia syndrome<\/a> (FCS), Arrowhead Pharmaceuticals hosted a series of patient and caregiver convenings. Key insights highlight urgent needs for greater provider awareness and offer actionable strategies to improve diagnosis, care, and advocacy.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-281542\" src=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1969-social-media-1-1024x694.jpg\" alt=\"Poster presenter speaking with an attendee\" width=\"600\" height=\"406\" srcset=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1969-social-media-1-1024x694.jpg 1024w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1969-social-media-1-300x203.jpg 300w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1969-social-media-1-768x520.jpg 768w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1969-social-media-1-1536x1040.jpg 1536w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1969-social-media-1-2048x1387.jpg 2048w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">The Lightning Rounds Presentations, scheduled for <strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">Oct. 20 from 12-12:30 p.m. ET, <\/strong>is a dynamic, rapid-fire format designed to showcase the most compelling poster presentations in under five minutes each. This session is a cornerstone of the annual NORD Breakthrough Summit, offering visibility to rising voices and game-changing ideas across the rare disease space.<\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">The <a href=\"https:\/\/nordsummit.org\/\" target=\"_blank\" rel=\"noopener nofollow\">NORD Breakthrough Summit<\/a>, taking place at the Grand Hyatt in Washington, is an annual event dedicated to accelerating progress for the over 30 million Americans living with rare diseases. <strong>Virtual registration is also available.<\/strong><\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\">This year\u2019s theme, <strong data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"strong\">&#8220;From Voices to Breakthroughs,&#8221;<\/strong> underscores the power of lived experience in shaping scientific and policy progress. Featured speakers include patient advocates, industry executives, researchers at the forefront of scientific innovation, and regulatory leaders.<\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><strong>Learn more and register at <a href=\"https:\/\/nordsummit.org\/\" target=\"_blank\" rel=\"noopener nofollow\" data-prosemirror-content-type=\"mark\" data-prosemirror-mark-name=\"link\">nordsummit.org<\/a><\/strong><strong>.<\/strong><\/p>\n<p data-prosemirror-content-type=\"node\" data-prosemirror-node-name=\"paragraph\" data-prosemirror-node-block=\"true\"><img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-281540\" src=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1960-social-media-1-1024x712.jpg\" alt=\"Photo of attendees browsing the poster hall\" width=\"600\" height=\"417\" srcset=\"https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1960-social-media-1-1024x712.jpg 1024w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1960-social-media-1-300x209.jpg 300w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1960-social-media-1-768x534.jpg 768w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1960-social-media-1-1536x1069.jpg 1536w, https:\/\/rarediseases.org\/wp-content\/uploads\/2025\/10\/MG_1960-social-media-1-2048x1425.jpg 2048w\" sizes=\"auto, (max-width: 600px) 100vw, 600px\" \/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Lightning round poster presentations highlight cutting-edge insights on issues ranging from Medicaid coverage disparities to real-world data innovation The future of rare disease advancements will take center stage at the &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/rarediseases.org\/es\/nord-breakthrough-summit-features-bold-new-ideas-for-the-future-of-rare-disease-care-policy-and-research\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> &#8220;NORD Breakthrough Summit Features Bold New Ideas for the Future of Rare Disease Care, Policy and Research&#8221;<\/span><\/a><\/p>\n","protected":false},"author":13,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","_price":"","_stock":"","_tribe_ticket_header":"","_tribe_default_ticket_provider":"","_tribe_ticket_capacity":"","_ticket_start_date":"","_ticket_end_date":"","_tribe_ticket_show_description":"","_tribe_ticket_show_not_going":false,"_tribe_ticket_use_global_stock":"","_tribe_ticket_global_stock_level":"","_global_stock_mode":"","_global_stock_cap":"","_tribe_rsvp_for_event":"","_tribe_ticket_going_count":"","_tribe_ticket_not_going_count":"","_tribe_tickets_list":"[]","_tribe_ticket_has_attendee_info_fields":false,"footnotes":""},"categories":[503,190,193],"tags":[4357],"class_list":["post-281538","post","type-post","status-publish","format-standard","hentry","category-events","category-featured-news","category-research","tag-ran-2025-export"],"acf":[],"_links":{"self":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/281538","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/comments?post=281538"}],"version-history":[{"count":0,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/posts\/281538\/revisions"}],"wp:attachment":[{"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/media?parent=281538"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/categories?post=281538"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/rarediseases.org\/es\/wp-json\/wp\/v2\/tags?post=281538"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}