Down Syndrome

In a mouse model of Down syndrome, three copies of a gene encoding a kinase contributed to congenital heart defects.

Extra copies of four interferon receptor genes found on human chromosome 21 trigger developmental changes in a mouse model of Down syndrome.

Benacerraf pioneered the use of ultrasound to diagnose fetal syndromes.

In people with the genetic condition, inflammation can cause a mild infection to snowball out of control, a study finds.

This year’s awards recognize work on integrins, noninvasive prenatal screening, and COVID-19 data tracking.

Overactive immune cells identified in a mouse model and in postmortem human brain tissue may offer a potential therapeutic target for cognitive delays associated with the condition, researchers report.

The Trump administration’s changes to policy involving material donated from abortions have led scientists to adjust their research projects or seek alternative sources of funding.

Multiple DNA breaks at either the centromere or the long arm of the mouse Y chromosome cause it to fragment and disappear.

Researchers create cerebral organoids using induced pluripotent stem cells from patient skin cells and characterize protein-expression changes linked to cognitive impairment.

Genome-wide effects of trisomy 21; RNA-based signs of transgenerational stress; depression and resilience; a call to overhaul US biomedical research system

The extra chromosome behind Down’s syndrome can impact transcriptional regulation beyond chromosome 21, a study finds.

Researchers suggest that a new prenatal DNA test should become the new standard to detect Down syndrome in fetuses.

Researchers identify a protein involved in the chromosomal disorder that could explain its characteristic learning deficits.

2012 saw the birth of a handful of non-invasive genetic prenatal tests, but the young industry faces growing pains as legal and ethical questions loom. 

Four companies who have developed noninvasive genetic prenatal tests are fighting over who has the patent rights to the new and revolutionary techniques.

Last week researchers released the first non-invasive prenatal test for Down syndrome, and more such tests are expected in the coming months.

Comparable levels of protein buildup in the brains of Alzheimer's and Down Syndrome patients may explain the similarities in dementia seen in the two conditions.