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 Complications

Down Syndrome History

Down Syndrome and Leukemia

Down Syndrome Management

Down Syndrome Screening

Down Syndrome Epidemiology

Down Syndrome Symptoms

Down Syndrome in Society

Down Syndrome Research

Down Syndrome and Other Diseases

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

Latest Down Syndrome News and Research

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

New QR4 model identifies hidden risk factors in cardiovascular disease

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.

9 May 2025

Study finds increased risk of age-related cardiovascular diseases in individuals with Down syndrome

Because life expectancy for individuals with Down syndrome has increased dramatically, investigators assessed the risk of age-related cardiovascular diseases in this population.

7 May 2025

Brain stimulation at 40Hz boosts memory and neurogenesis in Down syndrome mice

Study provides new evidence that sensory stimulation of gamma-frequency brain rhythm may promote broad-based restorative neurological health response.

25 Apr 2025

Children with chronic conditions face higher RSV hospitalization risk

Young children with chronic conditions are more likely to be hospitalized for respiratory syncytial virus (RSV) than healthy children, according to a new study.

25 Apr 2025

Researchers simulate protein structures behind learning and memory

Our brain's remarkable ability to form and store memories has long fascinated scientists, yet most of the microscopic mechanisms behind memory and learning processes remain a mystery.

16 Apr 2025

Immigration crackdowns disrupt the caregiving industry. Families pay the price.

Alanys Ortiz reads Josephine Senek's cues before she speaks. Josephine, who lives with a rare and debilitating genetic condition, fidgets her fingers when she's tired and bites the air when something hurts.

4 Apr 2025

Blood-brain barrier dysfunction and inflammation linked to Down syndrome Regression Disorder

A new research study led by Jonathan D. Santoro, MD, Director of the Neuroimmunology Program at Children's Hospital Los Angeles, shows evidence of dysfunction of the blood-brain barrier and inflammation in the central nervous system in individuals with Down syndrome Regression Disorder (DSRD).

14 Mar 2025

Non-invasive 40Hz gamma stimulation could help fight Alzheimer’s

A decade after scientists in The Picower Institute for Learning and Memory at MIT first began testing whether sensory stimulation of the brain's 40Hz "gamma" frequency rhythms could treat Alzheimer's disease in mice, a growing evidence base supporting the idea that it can improve brain health-in humans as well as animals-has emerged from the work of labs all over the world.

3 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

Boosting autophagy could improve egg quality and reproductive health

Our cells constantly receive DNA damage from factors such as ultraviolet rays, irradiations, toxins and chemicals.

13 Feb 2025

Blood test can predict preterm preeclampsia with 80% accuracy

A new blood test has an 80% accuracy in predicting preterm preeclampsia, according to a study published today, Feb. 12, in the journal Nature Medicine.

12 Feb 2025

New insights into respiratory syncytial virus and prevention strategies

Respiratory syncytial virus (RSV) is a major cause of respiratory infections, particularly in infants, children under 5 years, and older adults. Its rapid spread makes RSV a serious public health concern. Currently, there are no effective medications for RSV, and current treatment focuses on providing supportive care and preventing its spread.

20 Dec 2024

Pioneering study shows promising results for cognitive treatment in Down syndrome

The ICOD (Improving Condition in Down syndrome) project, a pioneering study in addressing the cognitive difficulties associated with Down syndrome, has demonstrated the safety of treatment with the molecule AEF0217, developed by the French biotech Aelis Farma, as well as its effectiveness in improving cognitive function in these people.

17 Dec 2024

PCORI funds $156 million for new patient-centered comparative clinical effectiveness research

The Patient-Centered Outcomes Research Institute (PCORI) has approved funding awards totaling more than $156 million for new patient-centered comparative clinical effectiveness research (CER), as well as research to improve methods and strengthen the science of engagement in CER.

3 Dec 2024

Pandemic linked to 16% rise in babies born with heart defects

The proportion of babies born with a congenital heart abnormality increased by 16 per cent after the first year of the pandemic, according to research at City St George's, University of London and published today in Ultrasound in Obstetrics and Gynecology.

15 Nov 2024