ADVERTISEMENT
Several X-shaped duplicated chromosomes floating on a blurry blue background.
Centromeres Mutate More Rapidly Than Expected
After sequencing centromeres in humans and other primates, researchers found that they vary greatly across species and potentially contribute to aging and disease.
Centromeres Mutate More Rapidly Than Expected
Centromeres Mutate More Rapidly Than Expected

After sequencing centromeres in humans and other primates, researchers found that they vary greatly across species and potentially contribute to aging and disease.

After sequencing centromeres in humans and other primates, researchers found that they vary greatly across species and potentially contribute to aging and disease.

Down Syndrome

The heart sections on the left present defects while the hearts on the right do not show defects. 
Genetic Signatures of a Defective Heart
Mariella Bodemeier Loayza Careaga, PhD | May 14, 2024 | 4 min read
In a mouse model of Down syndrome, three copies of a gene encoding a kinase contributed to congenital heart defects.
Chromosome with gold band
Immunity Genes May Play a Role in Down Syndrome
Kamal Nahas, PhD | Jul 6, 2023 | 4 min read
Extra copies of four interferon receptor genes found on human chromosome 21 trigger developmental changes in a mouse model of Down syndrome.
A portrait shot of Beryl Benacerraf, who wears a black shirt and gold necklace and smiles into the camera, on a bluish gray background.
Obstetrics “Giant” Beryl Benacerraf Dies at 73
Katherine Irving | Oct 26, 2022 | 2 min read
Benacerraf pioneered the use of ultrasound to diagnose fetal syndromes.
an immune cell in blood
Why Viral Infections Are More Severe in People with Down Syndrome
Andy Carstens | Oct 14, 2022 | 6 min read
In people with the genetic condition, inflammation can cause a mild infection to snowball out of control, a study finds.
Lauren Gardner, this year's Lasker-Bloomberg Public Service Award winner, in front of the COVID-19 dashboard she helped create.
2022 Lasker Award Winners Announced
Katherine Irving | Sep 28, 2022 | 2 min read
This year’s awards recognize work on integrins, noninvasive prenatal screening, and COVID-19 data tracking.
Study Points to Novel Role for Microglia in Down Syndrome
Catherine Offord | Oct 6, 2020 | 4 min read
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.
fetal tissue research stem cells
Scientists Grapple with US Restrictions on Fetal Tissue Research
Diana Kwon | Mar 2, 2020 | 6 min read
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.
Scientists Destroy Entire Chromosome with CRISPR
Kerry Grens | Aug 1, 2017 | 1 min read
Multiple DNA breaks at either the centromere or the long arm of the mouse Y chromosome cause it to fragment and disappear.
More Mini Brains
Jef Akst | Feb 17, 2016 | 1 min read
Simple versions of brain organoids could serve as new models for testing the effects of drugs, researchers reported at this year’s AAAS meeting. 
Probing Down Syndrome with Mini Brains
Bob Grant | Oct 20, 2015 | 2 min read
Researchers create cerebral organoids using induced pluripotent stem cells from patient skin cells and characterize protein-expression changes linked to cognitive impairment.
Week in Review: April 14–18
Tracy Vence | Apr 18, 2014 | 2 min read
Genome-wide effects of trisomy 21; RNA-based signs of transgenerational stress; depression and resilience; a call to overhaul US biomedical research system
Trisomy 21 Effects Seen Genome-wide
Rina Shaikh-Lesko | Apr 16, 2014 | 3 min read
The extra chromosome behind Down’s syndrome can impact transcriptional regulation beyond chromosome 21, a study finds.
Should Standard Prenatal Screening be Scrapped?
Bob Grant | Feb 28, 2014 | 2 min read
Researchers suggest that a new prenatal DNA test should become the new standard to detect Down syndrome in fetuses.
New Down Syndrome Protein Found
Edyta Zielinska | Mar 26, 2013 | 1 min read
Researchers identify a protein involved in the chromosomal disorder that could explain its characteristic learning deficits.
Year of the Fetus
Beth Marie Mole | Dec 18, 2012 | 6 min read
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. 
Patent War for Prenatal Tests
Cristina Luiggi | Jun 28, 2012 | 1 min read
Four companies who have developed noninvasive genetic prenatal tests are fighting over who has the patent rights to the new and revolutionary techniques.
Mom's Blood Reveals Baby's Down Syndrome
Jef Akst | Oct 25, 2011 | 1 min read
Last week researchers released the first non-invasive prenatal test for Down syndrome, and more such tests are expected in the coming months.
Down Syndrome brains look like Alzheimer’s
Tia Ghose | Jun 16, 2011 | 1 min read
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.
ADVERTISEMENT