In a new study, scientists at the University of Colorado Anschutz Medical Campus report the largest and deepest characterization of immune dysregulation in Down syndrome to date<\/p>\n
AURORA, CO (July 23, 2023) \u2013 <\/strong>People with Down syndrome, the condition caused by an extra copy of chromosome 21, or trisomy 21, display chronic dysregulation of their immune system, which can contribute to high rates of autoimmune conditions and severe complications from respiratory infections.<\/p>\n In a studim i ri<\/a> published in Science Advances, scientists at the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz Medical Campus report the largest and deepest characterization of immune dysregulation in Down syndrome to date. The findings also reveal important connections between immune hyperactivity and other aspects of Down syndrome and provide proof-of-principle evidence for a therapeutic strategy to restore immune balance in this population.<\/p>\n The Crnic Institute\u2019s previous research<\/a> demonstrated that this immune dysregulation is associated with hyperactivity in the interferon response, the main defense against viruses. In addition, they showed interferon hyperactivity contributes to many hallmarks of Down syndrome in a mouse model<\/a>, including congenital heart defects, developmental delays, cognitive impairments and malformation of the bone structures in the skull.<\/p>\n The most recent study reports the analysis of hundreds of blood samples from research participants enrolled in the Crnic Institute Human Trisome Project<\/a>, a large cohort study of people with Down syndrome. Using a combination of large-scale data technologies, referred to as multi-omics, they defined associations between the degree of interferon hyperactivity and multiple physiological, metabolic, and immune processes dysregulated by the extra chromosome.<\/p>\n \u201cWe observed that interferon hyperactivity really shapes the biology of Down syndrome across the lifespan. Those with the highest interferon activity display increased signs of autoinflammation, stronger dysregulation of important growth factors, profound metabolic changes, and a vastly different immune system,\u201d says Dr. Matthew Galbraith, leader of the Data Sciences Program at the Crnic Institute and one of the co-leading authors of the paper.<\/p>\n \u201cThese results clearly demonstrate that persons with Down syndrome with the highest levels of interferon activity show drastic changes in the immune system, such as increases in a type of T cells often involved in the development of autoimmune conditions, or depletion of B cells, which are important for response to vaccines\u201d explains Keith Smith, co-leading author of the paper.<\/p>\n Previous studies have indicated that interferon hyperactivity could be ameliorated with a class of drugs known as \u201cJAK inhibitors\u201d which are approved for the treatment of a wide range of autoinflammatory conditions in the general population. However, the effects of JAK inhibitors on the biological processes modulated by trisomy 21 have not been extensively studied.<\/p>\n To advance this area of research, the Crnic Institute team monitored the effects of JAK inhibition on a research participant with Down syndrome taking the JAK inhibitor known as tofacitinib, or Xeljanz\u2122, for the treatment of alopecia areata. Alopecia areata is an autoimmune form of hair loss more common in people with Down syndrome. Over the course of several years and under the care of their dermatologist, the participant provided blood samples while on the medicine and during voluntary interruptions of the treatment.<\/p>\n \u201cWe observed a remarkable normalization of interferon hyperactivity when the participant was taking the JAK inhibitor. Consistently, her interferon metrics and other biomarkers of inflammation dropped from the abnormally high levels seen in Down syndrome down to the range observed in the general population, but not any lower. This indicates that the JAK inhibitor provided therapeutic benefit in terms of hair regrowth without suppressing the immune system below the normal range,\u201d explains Dr. Angela Rachubinski, leader of the Clinical and Translational Sciences Program at the Crnic Institute and co-lead author of the study.<\/p>\n According to Dr. Joaquin Espinosa, executive director of the Crnic Institute and senior author of the paper, this study provided the rationale for two additional clinical trials for JAK inhibition in Down syndrome led by the Crnic Institute. \u201cOne study is focused on autoimmune skin conditions<\/a> and another one is focused on Down Syndrome Regression Disorder, a rare but devastating condition characterized by sudden loss of daily living skills and cognitive abilities.\u201d<\/p>\n \u201cThis study is an example of the transformative scientific research taking place today that is enabled by increased funding from the National Institutes of Health through the INCLUDE Project, which in turn is the fruit of many years of advocacy and strong support from members of Congress. Naturally, none of these discoveries would be possible without the enthusiastic participation of our self-advocates and their families in research projects like the Human Trisome Project,\u201d says Michelle Sie Whitten, president and CEO of the Fondacioni Global i Sindrom\u00ebs Down<\/a>, which supported the project with funding and outreach.<\/p>\n <\/p>\n # # # <\/p>\n Rreth Kampusit Mjek\u00ebsor t\u00eb Universitetit t\u00eb Kolorados Anschutz<\/strong><\/p>\n The University of Colorado Anschutz Medical Campus is a world-class medical destination at the forefront of transformative science, medicine, education and patient care. The campus encompasses the University of Colorado health professional schools, more than 60 centers and institutes and two nationally ranked independent hospitals – UCHealth University of Spitali i Kolorados<\/a> dhe Spitali i F\u00ebmij\u00ebve n\u00eb Kolorado<\/a> – that treat more than two million adult and pediatric patients each year. Innovative, interconnected and highly collaborative, the University of Colorado Anschutz Medical Campus delivers life-changing treatments, patient care and professional training and conducts world-renowned research fueled by over $690 million in research grants. For more information, visit www.cuanschutz.edu<\/a>.<\/p>\n Rreth Institutit Linda Crnic p\u00ebr Sindrom\u00ebn Down<\/strong><\/p>\n Instituti Linda Crnic p\u00ebr Sindrom\u00ebn Down \u00ebsht\u00eb nj\u00eb nga t\u00eb vetmet qendra k\u00ebrkimore akademike t\u00eb p\u00ebrkushtuara plot\u00ebsisht ndaj p\u00ebrmir\u00ebsimit t\u00eb jet\u00ebs s\u00eb njer\u00ebzve me sindrom\u00ebn Down p\u00ebrmes k\u00ebrkimeve t\u00eb avancuara biomjek\u00ebsore, q\u00eb shtrihen nga shkenca baz\u00eb deri tek hetimet p\u00ebrkthimore dhe klinike. I themeluar p\u00ebrmes mb\u00ebshtetjes bujare dhe partneritetit t\u00eb Fondacionit Global t\u00eb Sindrom\u00ebs Down, Fondacionit Anna dhe John J. Sie dhe Universitetit t\u00eb Kolorados, Instituti Crnic mb\u00ebshtet nj\u00eb program t\u00eb lul\u00ebzuar k\u00ebrkimor p\u00ebr sindrom\u00ebn Down q\u00eb p\u00ebrfshin mbi 50 ekipe k\u00ebrkimore n\u00eb kat\u00ebr kampuse n\u00eb Kolorado. Gama e p\u00ebrparme. P\u00ebr t\u00eb m\u00ebsuar m\u00eb shum\u00eb, vizitoni www.crnicinstitute.org<\/a> ose na ndiqni n\u00eb Facebook dhe Twitter @CrnicInstitute.<\/p>\n Rreth Fondacionit Global t\u00eb Sindrom\u00ebs Down<\/strong><\/p>\n The Global Down Syndrome Foundation (GLOBAL) is the largest non-profit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL has donated more than $32 million to establish the first Down syndrome research institute supporting over 400 scientists and over 2,200 patients with Down syndrome from 33 states and 10 countries. Working closely with Congress and the National Institutes of Health, GLOBAL is the lead advocacy organization in the U.S. for Down syndrome research and care. GLOBAL has a membership of over 120 Down syndrome organizations worldwide, and is part of a network of Affiliates \u2013 the Instituti Crnic p\u00ebr Sindrom\u00ebn Down<\/a>, Qendra Sie p\u00ebr Sindrom\u00ebn Down<\/a>, dhe Universiteti i Kolorados Alzheimer dhe Qendra e Njohjes<\/a> \u2013 t\u00eb gjitha n\u00eb kampusin mjek\u00ebsor t\u00eb Anschutz.<\/p>\n Publikimet mjek\u00ebsore t\u00eb p\u00ebrhapura gjer\u00ebsisht t\u00eb GLOBAL p\u00ebrfshijn\u00eb Udh\u00ebzimet globale t\u00eb kujdesit mjek\u00ebsor p\u00ebr t\u00eb rriturit me sindrom\u00ebn Down<\/em><\/a>, Testimi prenatal dhe informacioni rreth sindrom\u00ebs Down<\/em><\/a>, dhe revist\u00ebn e vler\u00ebsuar me \u00e7mime Bota e Sindrom\u00ebs Down TM<\/sup><\/em><\/a> . GLOBAL gjithashtu organizon B\u00ebhu i Bukur Behu Vet\u00eb Show Fashion<\/em><\/a>, the largest Down syndrome fundraiser in the world.<\/p>\n Visit globaldownsyndrome.org and follow us on social media (Facebook & Twitter: @GDSFoundation, Instagram: @globaldownsyndrome).<\/p>","protected":false},"excerpt":{"rendered":" In a new study, scientists at the University of Colorado Anschutz Medical Campus report the largest and deepest characterization of immune dysregulation in Down syndrome to date AURORA, CO (July 23, 2023) \u2013 People with Down syndrome, the condition caused by an extra copy of chromosome 21, or trisomy 21, display chronic dysregulation of their […]<\/p>\n","protected":false},"author":3,"featured_media":152842,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"ngg_post_thumbnail":0,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[8],"tags":[],"class_list":["post-152841","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-press-releases"],"acf":[],"yoast_head":"\n