Trisomy 21 News and Research

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New metric detects early Alzheimer’s changes in brain's white matter

Alzheimer's disease has traditionally been studied as a condition that primarily affects the brain's gray matter, where neuronal cell bodies are located and some of the disease's most characteristic lesions accumulate.

5 Aug 2026

Hidden junk DNA could play decisive role in cancer

Many repetitive regions of the genome have been considered "junk DNA" because the technologies available did not allow them to be studied at sufficient resolution.

5 Jun 2026

Excessive RNA editing enzyme alters brain circuit formation in Down syndrome

A collaborative research study co-led by scientists at the Icahn School of Medicine at Mount Sinai and the Liber Institute for Brain Development has for the first time identified a biological process that may help explain how the brain develops differently in people with Down syndrome.

31 Mar 2026

Brain lesions in Down syndrome show unexpected reversible changes

What has long been interpreted as permanent and irreversible vascular damage may not be exclusively so.

19 Mar 2026

New method uses biomarkers to determine a person's biological age

Aging is a highly individual process. An international consortium coordinated by researchers in Konstanz has developed a method that uses biomarkers to determine a person's biological age - a valuable tool for research on ageing and the development of new approaches in preventive medicine.

19 Mar 2026

New discovery could reshape how scientists think about Alzheimer’s treatment

Rutgers neuroscientist Peng Jiang was visiting his hometown of Qianshan, a city in China's Anhui province, when a neighbor came to his parents' house with a story that would stay with him.

24 Nov 2025

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

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

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