Down Syndrome

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.

What is Down Syndrome?

Down syndrome or Down's syndrome, is a congenital condition that usually causes some degree of learning disability and is typically characterized by certain physical features.

Down Syndrome Symptoms

Down Syndrome Complications

Down Syndrome Screening

Down Syndrome Management

Down Syndrome Epidemiology

Down Syndrome and Other Diseases

Down Syndrome History

Down Syndrome in Society

Down Syndrome Research

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome and Leukemia

Latest Down Syndrome News and Research

$1.2 million NIH grant may help unravel the interplay between Down syndrome and myeloid leukemia

A four-year, $1.2 million grant from the National Cancer Institute of the National Institutes of Health may help researchers find new clues to the interplay between Down syndrome (DS) and myeloid leukemia (ML).

11 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

Lecanemab effectively targets amyloid plaques in people with Down syndrome, study finds

People with Down syndrome are likely to develop Alzheimer's disease at a young age, with autopsy studies showing that by age 40 years, the brains of individuals with Down syndrome have amyloid plaques.

19 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

Aging aggravates liver fibrosis in Down Syndrome, new study finds

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 12, entitled, "Aging exacerbates oxidative stress and liver fibrosis in an animal model of Down Syndrome."

10 Jul 2024

Neanderthal child with Down syndrome reveals ancient caregiving practices

Research reveals that Neanderthals provided extensive caregiving, allowing a child with Down syndrome and congenital ear pathology to survive for at least six years, highlighting their complex social structures.

1 Jul 2024

Study documents the first case of Down syndrome in Neandertals

A new study published by an international multidisciplinary team of researchers including faculty at Binghamton University, State University of New York, documents the first case of Down syndrome in Neandertals and reveals that they were capable of providing altruistic care and support for a vulnerable member of their social group.

26 Jun 2024

Physical activity and cognitive training can improve mood for adults with Down's syndrome

A new study has discovered that physical activity and cognitive training can improve levels of life satisfaction and mood for adults with Down's syndrome.

13 Jun 2024

Study confirms strong barrier preventing chronic wasting disease transmission to humans

A new study of prion diseases, using a human cerebral organoid model, suggests there is a substantial species barrier preventing transmission of chronic wasting disease (CWD) from cervids-;deer, elk and moose-;to people.

17 May 2024

Understanding public perception of polygenic embryo screening for IVF

Three out of four U.S. adults support the use of emerging technologies that estimate a future child's likelihood of developing health conditions influenced by multiple genes -; such as diabetes, heart disease, and depression -; before an embryo is implanted during in vitro fertilization (IVF), according to a new public opinion survey led by researchers at Harvard Medical School.

15 May 2024

Study sheds light on challenges faced by caregivers of children with genetic conditions

When it comes to improving the lives of children with genetic conditions, medical research often focuses solely on the children. But there is an equally important population in need of research that a faculty member at the University of Colorado Department of Medicine is highlighting -; the caregivers.

10 May 2024

New tool more accurately predicts an individual's 10-year risk of cardiovascular diseases

Collaborative research, led from the University of Oxford and published today in Nature Medicine, has developed a new tool called QR4 that more accurately predicts an individual's 10-year risk of cardiovascular diseases, like heart disease and stroke, particularly identifying high-risk patients that current prediction tools miss.

8 May 2024

APOE4 gene linked to early onset Alzheimer's, target for therapeutic intervention

A study published in Nature Medicine delineates how APOE4 homozygosity distinctly accelerates Alzheimer's disease pathology and biomarkers from the age of 55, suggesting a unique form of the disease and a potential focus for targeted therapies.

8 May 2024

Study identifies APOE4 homozygotes as high-risk group for Alzheimer's disease

Researchers from the Research Area on Neurological Diseases, Neuroscience, and Mental Health at the Sant Pau Research Institute, led by Dr. Juan Fortea, Director of the Memory Unit of the Neurology Service at the same hospital, have found that over 95% of individuals over 65 years old who have two copies of the APOE4 gene -APOE4 homozygotes- show biological characteristics of Alzheimer's pathology in the brain or biomarkers of this disease in cerebrospinal fluid and PET scans.

6 May 2024

New QR4 algorithm outperforms previous models in predicting cardiovascular disease risk

A new cardiovascular risk prediction algorithm.

23 Apr 2024

Study reveals accelerated progression of Alzheimer's in people with Down syndrome

Nearly all adults with Down syndrome will develop evidence of Alzheimer's disease by late middle age.

16 Apr 2024

Hypoglossal nerve stimulation offers hope for pediatric Down syndrome patients with OSA

While Obstructive Sleep Apnea (OSA) affects about five percent of the general pediatric population, 80 percent of children with Down syndrome experience OSA. Continual OSA results in poor health, including disruptions to cognitive development and functioning, leading physician-researchers from Mass General Brigham to investigate better methods to treat these patients as early as possible to maximize their health outcomes.

12 Apr 2024

JAX researchers develop a powerful platform to study human health conditions

In humans, the exact same mutation in a specific gene can produce widely different outcomes. It's a bit like adding the same amount of salt to different recipes-;the effect on the finished dish can be quite different, depending on the mix of other ingredients.

3 Apr 2024

Study reveals protein structure similarities in Alzheimer's and Down syndrome

More than 90% of people with Down syndrome, the most common chromosomal disorder in humans and the most frequent genetic cause of intellectual disability, are diagnosed with Alzheimer's disease by ages 55-60.

29 Mar 2024

From China to Uzbekistan - United for Women’s Wellness on IWD

On the occasion of International Women's Day (IWD), BGI Genomics interview Wang Leilei, a trailblazing blind model, and Viktoriya Tsay, an Uzbek advocate of women’s health. Their stories stich a cross-cultural narrative of nurturing the nuance of women’s wellness worldwide.

From BGI Genomics 6 Mar 2024