{"id":467524,"date":"2025-10-02T04:15:52","date_gmt":"2025-10-02T04:15:52","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/467524\/"},"modified":"2025-10-02T04:15:52","modified_gmt":"2025-10-02T04:15:52","slug":"pacific-northwest-research-institute-publishes-key-advances-in-rare-and-genetic-disease-research-amid-national-funding-uncertainty-2","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/467524\/","title":{"rendered":"Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty"},"content":{"rendered":"<ol class=\"mdc-breadcrumbs__list__mdc\">\n<li class=\"mdc-breadcrumbs__item__mdc\"><a href=\"https:\/\/www.morningstar.com\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-breadcrumb__mdc mdc-breadcrumb--icon-only__mdc\" target=\"_blank\" rel=\"noopener\"><br \/>\n Home<\/a><\/li>\n<li class=\"mdc-breadcrumbs__item__mdc\">\n<a href=\"https:\/\/www.morningstar.com\/news\" tabindex=\"0\" class=\"mds-link--active mdc-link__mdc mdc-link--body__mdc mdc-breadcrumb__mdc\" target=\"_blank\" rel=\"noopener\"> News<\/a><\/li>\n<li class=\"mdc-breadcrumbs__item__mdc\">\n<a href=\"https:\/\/www.morningstar.com\/news\/pr-newswire\" tabindex=\"0\" rel=\"up noopener\" itemprop=\"articleSection\" class=\"mds-link--active mdc-link__mdc mdc-link--body__mdc mdc-breadcrumb__mdc\" target=\"_blank\"> PR Newswire<\/a><\/li>\n<li aria-current=\"page\" class=\"mdc-breadcrumbs__item__mdc\">\n<p> Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty<\/p>\n<\/li>\n<\/ol>\n<p>              Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty<\/p>\n<p>                Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">PR Newswire<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">SEATTLE, Oct. 1, 2025<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">\n                  SEATTLE, Oct. 1, 2025 \/PRNewswire\/ &#8212;\u00a0Despite a year marked by funding freezes, delays, and growing uncertainty about federal support for biomedical research, scientists at <a href=\"https:\/\/pnri.org\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">Pacific Northwest Research Institute<\/a>\u00a0(PNRI) advanced discoveries that could transform diagnosis and treatment for rare and genetic diseases.<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">\n                    <a href=\"https:\/\/mma.prnewswire.com\/media\/2787552\/Pacific_Northwest_Research_Institute_Logo.html\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\"><br \/>\n                       <img decoding=\"async\" alt=\"\" src=\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2025\/10\/1759378550_312_Pacific_Northwest_Research_Institute_Logo.jpg\" class=\"mdc-responsive-image__image\"\/><br \/>\n                    <\/a>\n                  <\/p>\n<p>                PNRI research advances rare disease and cancer science. Progress continues despite looming federal cuts.<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">In the past year, PNRI researchers published 21 <a href=\"https:\/\/pnri.org\/publications\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">high-impact studies<\/a>\u00a0spanning rare inherited disorders, cancer biology, and the structure of the human genome.<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">&#8220;Even in times of funding instability, our scientists remain dedicated to delivering insights that change lives,&#8221; said Mark Rieder, PhD, Chief Operating Officer at PNRI. &#8220;These findings highlight the vital role independent research institutes play in driving innovation outside the spotlight of major medical centers.&#8221;<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">\n                  <strong class=\"mdc-article-strong\" data-v-479a2324=\"\">Highlights of PNRI&#8217;s recent research include:<br data-v-479a2324=\"\"\/><\/strong>\n                <\/p>\n<ul class=\"mdc-article-list mdc-article-list--unordered\" data-v-7b473e83=\"\">\n<li data-v-7b473e83=\"\">\n                    <strong class=\"mdc-article-strong\" data-v-479a2324=\"\">Rare disease diagnosis:<\/strong>\u00a0<a href=\"https:\/\/pnri.org\/dudley-lab\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">Dr. Aim\u00e9e Dudley<\/a> and her team used yeast-based model systems to investigate urea cycle disorders. Their work clarified the impact of genetic variants, distinguishing severe from milder forms \u2014 critical knowledge for genetic counseling and treatment.<\/li>\n<li data-v-7b473e83=\"\">\n                    <strong class=\"mdc-article-strong\" data-v-479a2324=\"\">Genomic rearrangements:<\/strong>\u00a0<a href=\"https:\/\/pnri.org\/carvalho-lab\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">Dr. Cl\u00e1udia Carvalho&#8217;s lab<\/a> mapped repeated DNA sequences and chromosomal inversions that can trigger structural changes in the human genome. Their work revealed how hidden rearrangements disrupt disease genes and emphasized the importance of detecting inversions as overlooked drivers of disease.<\/li>\n<li data-v-7b473e83=\"\">\n                    <strong class=\"mdc-article-strong\" data-v-479a2324=\"\">Genomic resources for diagnosis:<\/strong>\u00a0<a href=\"https:\/\/pnri.org\/mclaughlin-lab\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">Dr. Rick McLaughlin<\/a>\u00a0and his team contributed to an international effort generating a comprehensive long-read sequencing dataset. This work provides a resource to help clinicians interpret genetic test results and uncover hidden causes of disease.<\/li>\n<li data-v-7b473e83=\"\">\n                    <strong class=\"mdc-article-strong\" data-v-479a2324=\"\">Cancer in marine life:<\/strong>\u00a0<a href=\"https:\/\/pnri.org\/metzger-lab\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">Dr. Michael Metzger&#8217;s lab<\/a>\u00a0identified multiple transmissible cancer lineages in basket cockles in Puget Sound. In soft-shell clams, the team showed how contagious cancer cells survive in seawater and spread through populations. They also showed why some infections progress differently, offering insights into cancer evolution with lessons for human oncology.<\/li>\n<\/ul>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">These discoveries lay the groundwork for earlier diagnoses and better treatments. Yet this progress could be slowed or halted by proposed federal budget changes that threaten to cut biomedical research funding by up to 40 percent, making continued investment essential to sustain discovery.<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">\n                  <strong class=\"mdc-article-strong\" data-v-479a2324=\"\">About PNRI<\/strong><br \/>\n                  <br data-v-602de5d2=\"\"\/>Pacific Northwest Research Institute (PNRI), founded in 1956, is an independent, nonprofit biomedical research institute dedicated to solving pressing questions in genetics and health. PNRI scientists collaborate with partners worldwide to better understand and treat rare and common diseases. Learn more at\u00a0<a href=\"https:\/\/pnri.org\/\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">pnri.org<\/a>.<\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">\n                   <img decoding=\"async\" alt=\"\" src=\"https:\/\/www.europesays.com\/uk\/wp-content\/uploads\/2025\/10\/1759378551_866_favicon.png\" class=\"mdc-responsive-image__image\"\/> View original content to download multimedia:<a href=\"https:\/\/www.prnewswire.com\/news-releases\/pacific-northwest-research-institute-publishes-key-advances-in-rare-and-genetic-disease-research-amid-national-funding-uncertainty-302573164.html\" tabindex=\"0\" class=\"mdc-link__mdc mdc-link--body__mdc\" target=\"_blank\" rel=\"noopener\">https:\/\/www.prnewswire.com\/news-releases\/pacific-northwest-research-institute-publishes-key-advances-in-rare-and-genetic-disease-research-amid-national-funding-uncertainty-302573164.html<\/a><\/p>\n<p class=\"mdc-article-paragraph\" data-v-602de5d2=\"\">SOURCE Pacific Northwest Research Institute<\/p>\n<p>               <img decoding=\"async\" alt=\"\" src=\"https:\/\/rt.prnewswire.com\/rt.gif?NewsItemId=SF88990&amp;Transmission_Id=202510011923PR_NEWS_USPR_____SF88990&amp;DateId=20251001\" class=\"mdc-responsive-image__image\"\/><\/p>\n<p>\n\t\t\t\t\tThe articles, information, and content displayed on this webpage may<br \/>\n\t\t\t\t\tinclude materials prepared and provided by third parties. Such<br \/>\n\t\t\t\t\tthird-party content is offered for informational purposes only and<br \/>\n\t\t\t\t\tis not endorsed, reviewed, or verified by Morningstar.\n\t\t\t\t<\/p>\n<p>\n\t\t\t\t\tMorningstar makes no representations or warranties regarding the<br \/>\n\t\t\t\t\taccuracy, completeness, timeliness, or reliability of any third-party<br \/>\n\t\t\t\t\tcontent displayed on this site. The views and opinions expressed in<br \/>\n\t\t\t\t\tthird-party content are those of the respective authors and do not<br \/>\n\t\t\t\t\tnecessarily reflect the views of Morningstar, its affiliates, or employees.\n\t\t\t\t<\/p>\n<p>\n\t\t\t\t\tMorningstar is not responsible for any errors, omissions, or delays<br \/>\n\t\t\t\t\tin this content, nor for any actions taken in reliance thereon.<br \/>\n\t\t\t\t\tUsers are advised to exercise their own judgment and seek independent<br \/>\n\t\t\t\t\tfinancial advice before making any decisions based on such content.<br \/>\n\t\t\t\t\tThe third-party providers of this content are not affiliated with<br \/>\n\t\t\t\t\tMorningstar, and their inclusion on this site does not imply any<br \/>\n\t\t\t\t\tform of partnership, agency, or endorsement.\n\t\t\t\t<\/p>\n","protected":false},"excerpt":{"rendered":"Home News PR Newswire Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid&hellip;\n","protected":false},"author":2,"featured_media":8202,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,70,16,15],"class_list":{"0":"post-467524","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-uk","11":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/115302641805440497","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/467524","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=467524"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/467524\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/8202"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=467524"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=467524"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=467524"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}