{"id":83058,"date":"2026-07-24T00:05:47","date_gmt":"2026-07-24T00:05:47","guid":{"rendered":"https:\/\/english.saigonbiz.com\/vn\/crnic-institute-landmark-research-paves-the-way-for-personalized-medicine-in-down-syndrome\/"},"modified":"2026-07-24T00:05:47","modified_gmt":"2026-07-24T00:05:47","slug":"crnic-institute-landmark-research-paves-the-way-for-personalized-medicine-in-down-syndrome","status":"publish","type":"post","link":"https:\/\/english.saigonbiz.com\/vn\/crnic-institute-landmark-research-paves-the-way-for-personalized-medicine-in-down-syndrome\/","title":{"rendered":"Crnic Institute Landmark Research Paves the Way for Personalized Medicine in Down Syndrome"},"content":{"rendered":"
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New study in Nature Communications reveals unique molecular signatures associated with variable health outcomes<\/em><\/p>\n

AURORA, CO, July 23, 2026 (GLOBE NEWSWIRE) — In a groundbreaking new study<\/a> published in\u00a0Nature Communications<\/i>, researchers from the University of Colorado Anschutz Linda Crnic Institute for Down Syndrome<\/a> (Crnic Institute) discovered unique biological processes altered among individuals with Down syndrome who have different sets of co-occurring conditions. The findings mark an important step toward personalized treatment.<\/p>\n

Biological differences are linked to co-occurring conditions of Down syndrome<\/b><\/p>\n

The study is part of the ongoing Human Trisome Project<\/a>™, one of the largest and most comprehensive studies of people with Down syndrome, including extensive clinical data, multi-omics data sets and the largest biobank for the study of this condition to date. The Crnic Institute team analyzed hundreds of blood samples to identify physiological differences across research participants with Down syndrome who have histories of medical conditions that are more prevalent in this population. They mapped changes in gene expression, protein levels, metabolite abundance and immune cell types across 100 different clinical traits, producing an unprecedented atlas of the processes underlying variable medical complexity in Down syndrome. <\/p>\n

\u201cThese results decipher for the first time the conserved effects of the extra copy of chromosome 21 versus effects that are unique or exacerbated in people with Down syndrome that have other co-occurring medical conditions,\u201d said Joaqu\u00edn Espinosa, PhD, executive director of the Crnic Institute, professor of Pharmacology, principal investigator of the Human Trisome Project and senior author of the paper. \u201cWe know that no two individuals with Down syndrome are the same from a clinical standpoint, and now we can understand how this uniqueness reflects in their molecular, metabolic and immune profiles.\u201d<\/p>\n

\u201cThe number of discoveries produced by this analysis is spectacular,\u201d said Micah Donovan, PhD, instructor of Pharmacology and a lead author of the study. \u201cFor example, this effort revealed the outsized effects of obesity in Down syndrome, whereby individuals with obesity display strong changes in key hormonal circuits, metabolism and systemic inflammation.”<\/p>\n

The researchers used advanced computational tools to analyze the enormous volume of biological and clinical data generated through the study. The resulting dataset is expected to support many future investigations into the wide range of health outcomes experienced by people with Down syndrome.<\/p>\n

\u201cWe found strong biosignatures of immune dysregulation and cardiac stress that persist throughout life in those with a history of specific congenital heart defects,\u201d explained Srija Chilamcherla, MS, another lead author of the study. \u201cThese results pave the way toward the development of biomarkers that could help physicians monitor the lifelong effects of medical conditions that occurred earlier in life.\u201d<\/p>\n

The study team relied on a combination of self-reported medical histories and expert curation of medical records made available by self-advocates and their caregivers.<\/p>\n

\u201cThis is a clear example of the power of research participation and data sharing by the community,\u201d said Angela Rachubinski, PhD, assistant research professor of Pediatrics and director of the Clinical and Translational Sciences Program at the Crnic Institute. \u201cThanks to the contributions from research participants and their families, we have gained much-needed knowledge about the biological processes associated with co-occurring medical conditions more common in Down syndrome.\u201d<\/p>\n

Findings could enable future targeted therapies<\/b><\/p>\n

The Crnic Institute study team has embarked on several follow-up studies aimed at accelerating the development of biomarkers of clinical utility and tailored therapeutic options for subsets of the Down syndrome population. <\/p>\n

\u201cThis is another important breakthrough from our scientists at the Crnic Institute that we hope will lead to more personalized care and effective treatments for people with Down syndrome,\u201d said Michelle Sie Whitten, president and CEO of Global Down Syndrome Foundation<\/a> (GLOBAL), a partner and an affiliate organization of the Crnic Institute. \u201cAs a mother of a brilliant 23-year-old with Down syndrome, I am eager to understand how this new knowledge may extend life and improve the health of millions of people with Down syndrome across the world. We are proud that GLOBAL\u2019s advocacy efforts with Congress and the National Institutes of Health (NIH) led to the establishment of the NIH-wide Down syndrome funding initiative, the INCLUDE Project, which supports groundbreaking studies and clinical trials like this one.\u201d <\/p>\n

About the Linda Crnic Institute for Down Syndrome<\/b>\u00a0
The Linda Crnic Institute for Down Syndrome is one of the only academic research centers fully devoted to improving the lives of people with Down syndrome through advanced biomedical research spanning from basic science to translational and clinical investigations. Founded through the generous support and partnership of the Global Down Syndrome Foundation<\/a>, the Anna and John J. Sie Foundation<\/a>, and the University of Colorado<\/a>, the Crnic Institute supports a thriving Down syndrome research program involving over 50 research teams across four campuses on the Colorado Front Range. To learn more, visit www.crnicinstitute.org<\/a> or follow us on Facebook, Instagram, X, Bluesky and LinkedIn @CrnicInstitute.\u00a0<\/p>\n

About the University of Colorado Anschutz <\/b><\/p>\n

The University of Colorado Anschutz is a world-class medical destination at the forefront of transformative science, medicine, education\u00a0and patient care. The campus\u00a0encompasses\u00a0the University of Colorado health professional schools, more than 60 centers and institutes and two nationally ranked independent\u00a0hospitals\u00a0–\u00a0UCHealth University of Colorado Hospital<\/a>\u00a0and\u00a0Children’s Hospital Colorado<\/a>\u00a0–\u00a0which see more than two million adult and pediatric patient visits yearly. Innovative, interconnected and highly collaborative, CU Anschutz delivers life-changing\u00a0treatments, patient care and professional training and conducts world-renowned research fueled by\u00a0$910 million in annual research funding, including $757 million in sponsored awards and $153 million in philanthropic gifts.\u00a0<\/p>\n

About Global Down Syndrome Foundation<\/b>\u00a0<\/p>\n

The Global Down Syndrome Foundation (GLOBAL) is the largest nonprofit in the U.S. working to save lives and dramatically improve health outcomes for people with Down syndrome. GLOBAL established the first Down syndrome research institute and supports over 400 scientists and over 2,700 patients with Down syndrome from 40 states and 11 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\u00a0Crnic Institute for Down Syndrome<\/a>, the\u00a0Sie Center for Down Syndrome<\/a>, the\u00a0University of Colorado Alzheimer\u2019s and Cognition Center<\/a>\u00a0\u2013 all on the Anschutz Medical Campus, and the\u00a0GLOBAL Adult Down Syndrome Clinic<\/a>\u00a0at Denver Health.<\/p>\n

GLOBAL\u2019s widely circulated medical publications include\u00a0Global Medical Care Guidelines for Adults with Down Syndrome<\/i><\/a>,\u00a0Prenatal & Newborn Down Syndrome Information<\/i><\/a>, and the award-winning magazine, Down Syndrome World\u00a0TM<\/i><\/a>. GLOBAL also organizes the annual\u00a0AcceptAbility Gala<\/i><\/a>\u00a0in Washington D.C., and the annual\u00a0Be Beautiful Be Yourself Fashion Show<\/i><\/a>, the largest Down syndrome fundraiser in the world. Visit\u00a0globaldownsyndrome.org<\/a>\u00a0and follow us on social media\u00a0Facebook<\/a>,\u00a0X<\/a>,\u00a0Instagram<\/a>,<\/u>\u00a0LinkedIn<\/a>, and YouTube<\/a>.<\/p>\n

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