Trisomy X News and Research

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Nuclear binding protein identified as key contributor to trisomy 21-related CHDs

Three copies of chromosome 21 causes Down syndrome (DS), and roughly half of children born each year in the United States with DS-approximately 2,600-also have congenital heart defects (CHDs).

22 Oct 2025

HMGN1 gene linked to heart problems in people with Down syndrome

Nearly half of all babies born with Down syndrome face congenital heart defects, often involving serious malformations that require surgery in the first months of life.

22 Oct 2025

Lifespan study reveals age-specific biological changes in Down Syndrome

In a groundbreaking new study published in Nature Communications, researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz discovered important differences in the physiological changes observed in over 300 individuals with Down syndrome across the lifespan.

24 Sep 2025

Proteome imbalance from aneuploidy linked to mitochondrial dysfunction

It has been known for several years that abnormal chromosome numbers lead to protein imbalances in the affected cells. Researchers at RPTU have now investigated the detailed effects of such imbalances.

27 Jun 2025

Study finds high levels of iron in the brains of people diagnosed with Down syndrome and Alzheimer's

Scientists at the USC Leonard Davis School of Gerontology have discovered a key connection between high levels of iron in the brain and increased cell damage in people who have both Down syndrome and Alzheimer's disease.

19 Jun 2025

Scientists uncover hints of a potential new cause of stomach cancer

For the first time, scientists have systematically analyzed somatic mutations in stomach lining tissue to unpick mutational processes, some of which can lead to cancer.

19 Mar 2025

Earliest stages and possible new cause of stomach cancer revealed

For the first time, scientists have systematically analyzed somatic mutations in stomach lining tissue to unpick mutational processes, some of which can lead to cancer.

19 Mar 2025

Gene editing shows promise for treating trisomy at cellular level

Gene editing techniques may eventually allow trisomy to be treated at the cellular level, according to an in vitro proof-of-concept study.

18 Feb 2025

Study reveals key mechanisms behind cancer cells adapting to extra chromosomes

Cancer cells have special adaptation mechanisms that allow them to proliferate despite changes in their genetic makeup.

13 Feb 2025

Yourgene Health launches IONA Care+ non-invasive prenatal testing service

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, today announced the launch of IONA® Care+, a fully comprehensive non-invasive prenatal screening service for genetic conditions, in the UK.

13 Feb 2025

New study links genetic mosaicism to lower Alzheimer’s risk in adults with Down syndrome

Study finds mosaicism in Down syndrome reduces Alzheimer's risk, providing new insights into genetic influences on cognitive decline and dementia progression.

8 Nov 2024

Yourgene Health and Genetix launch first local non-invasive prenatal testing service in Colombia

Yourgene Health (part of the Novacyt group of companies), a leading international molecular diagnostics group, has installed the first non-invasive prenatal testing (NIPT) workflow in Colombia at Genetix, a high-tech medical organization specialized in human genetic diagnosis.

From Yourgene Health 7 Oct 2024

Why children with Down’s syndrome are predisposed to developing leukaemia

The study uncovers mechanisms linking Down syndrome to leukemia, emphasizing the role of oxidative stress and genetic alterations in fetal blood development.

26 Sep 2024

Coordinated health teams may help improve outcomes for children with Trisomy 21 and heart conditions

A coordinated, multidisciplinary health care team to address the specific physical, psychological and developmental needs of children with Trisomy 21, or Down syndrome, and congenital heart disease may help children with these conditions lead longer and more productive lives, according to a new scientific statement from the American Heart Association.

13 Sep 2024

Early embryos are prone to chromosomal copying errors, new research shows

A new discovery by researchers at the RIKEN Center for Biosystems Dynamics (BDR) in Japan upends decades of assumptions regarding DNA replication.

28 Aug 2024

Researchers identify distinct molecular profiles in Down syndrome

A new study published in Nature Communications by researchers from the Linda Crnic Institute for Down Syndrome (Crnic Institute) at the University of Colorado Anschutz Medical Campus reports a significant breakthrough.

7 Aug 2024

Genomic evidence of prenatal origins in childhood acute myeloid leukemia

A team of researchers from the Institute of Oncology of the University of Oviedo (IUOPA), the Josep Carreras leukemia Research Institute, the University of Barcelona and the Centre for Biomedical Research in Cancer Network (CIBERONC) have demonstrated that some childhood leukemia originate during embryonic development, although they do not manifest after a few months after birth.

30 May 2024

Factors that increase the risk of severe COVID-19 in children

Study analyzes a nationwide cohort of hospitalized children and adolescents in Germany, identifying key risk factors for severe SARS-CoV-2 infection, including obesity, Trisomy 21, and neurological conditions.

3 Jan 2024

Genome haplarithmisis sheds light on complex genetic landscape of miscarriages

A new study published in Nature Medicine reports on a chromosomal analysis of over 1,700 spontaneous early miscarriages.

27 Nov 2023

Non-invasive genetic test for fetal DNA sequencing developed

A team of investigators from Massachusetts General Hospital (MGH), Brigham and Women's Hospital (BWH), and the Broad Institute of MIT and Harvard have developed a non-invasive genetic test that can screen the blood of pregnant individuals to survey all genes for fetal DNA sequence variants.

22 Nov 2023