Trisomy 21 News and Research

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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

Historic DNA analysis identifies Down and Edwards syndromes in ancient humans

By analyzing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains.

20 Feb 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

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

Yourgene Health launches MagBench Automated DNA Extraction Instrument and Kit for NIPT workflows

Yourgene Health plc (“Yourgene”), a leading international molecular diagnostics group, today launched the Yourgene® MagBench™ Automated DNA Extraction Instrument and Kit. MagBench solution is available to Sage™ customers across Asia-Pacific and the Middle East.

From Yourgene Health 5 Sep 2023

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Scientists discuss the intricate relationship between the nervous and stomatognathic systems.

21 Aug 2023

Study reveals two key mechanisms underlying high risks from lung infections in Down syndrome

Individuals with Down syndrome, the genetic condition caused by triplication of human chromosome 21, also known as trisomy 21, display a very high risk of hospitalization and mortality after developing lung infections.

2 Aug 2023

Study reveals immune dysregulation in Down syndrome and potential therapeutic strategy

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.

17 Jul 2023

Overdosed gene on chromosome 21 accelerates aging in people with Down's syndrome

An overdosed gene on chromosome 21 causes people with Down's Syndrome to age faster than the general population.

12 Jul 2023

An extra gene causes excessive inhibitory connections in the neocortex of Down syndrome mouse models

An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.

21 Apr 2023

Scientists identify the cause of leukemia in people with trisomy 21

People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukaemia (AML), an aggressive form of blood cancer.

10 Mar 2023

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

28 Feb 2023

Study suggests cortical hemorrhage in fetal brain may be associated with COVID-19

Researchers evaluated the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections on fetal brain health.

25 Jan 2023

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics."

16 Dec 2022