Down Syndrome News and Research

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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.

New Platform Reveals Individual Sensitivity to Disease-Causing Mutations

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.

4 Apr 2024

Unveiling the Diversity and Evolutionary Dynamics of Centromeres Across Primates

A genomic study of human and selected nonhuman primate centromeres has revealed their unimaginable diversity and speed of evolutionary change.

4 Apr 2024

Cryo-EM Imaging Unveils Similar Protein Structures 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.

30 Mar 2024

Ancient DNA Study Finds Evidence of Chromosomal Disorders

By analyzing ancient DNA, an international team of researchers have uncovered cases of chromosomal disorders, including what could be the first case of Edwards syndrome ever identified from prehistoric remains.

21 Feb 2024

Mosaic Turner Syndrome Identified in 2500-Year-Old Briton: Ancient DNA Reveals Hidden History

Researchers at the Francis Crick Institute, working with University of Oxford, University of York and Oxford Archaeology, have developed a new technique to measure the number of chromosomes in ancient genomes more precisely, using it to identify the first prehistoric person with mosaic Turner syndrome (characterized by one X chromosome instead of two [XX]), who lived about 2500 years ago.

16 Jan 2024

New Test Scrutinizes All Fetal Genes for Early Disease Detection

A research team from Odense University Hospital and the University of Southern Denmark has developed an innovative screening test.

9 Jan 2024

Immune Cell Movement Influenced By Water and Ion Influx

Scientists at the Francis Crick Institute, in collaboration with Imperial College London, King’s College London, and the University of Cambridge, have demonstrated that the influx of water and ions into immune cells enables them to navigate to specific locations in the body.

7 Dec 2023

Discovery on Learning and Memory Could Lead to New Alzheimer's Treatments

Scientists at the University of Colorado Anschutz Medical Campus have made a `paradigm shifting’ discovery on the mechanisms required for learning and memory that could lead to new therapies for Alzheimer’s disease and potentially Down syndrome.

31 Aug 2023

Deep Learning Model Accurately Predicts RNA-Targeting CRISPR Activity

According to new research published in Nature Biotechnology, artificial intelligence can predict on- and off-target behavior of CRISPR tools that target RNA rather than DNA.

5 Jul 2023

Researchers Identify Genes Responsible for Craniofacial Dysmorphology in Down Syndrome

Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a mouse model of Down Syndrome.

27 Apr 2023

DSCAM Gene Triplication Causes Excessive Inhibitory Signaling in the Brain of Down Syndrome Mouse

An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.

21 Apr 2023

Novel Protein Involved in Tumor Suppression Identified

Understanding how cancer develops is critical for designing effective, personalized cancer therapies. Researchers have known for years that cancer begins with mutations in certain types of genes.

7 Apr 2023

Study pinpoints a splicing deregulation that causes therapeutic vulnerability in pediatric AML

Pediatric acute myeloid leukemia or pAML is a childhood blood cancer, one that has proved confounding to clinicians and researchers, with a high relapse rate and relatively few identified genetic mutations (compared to the adult version) that might explain its cause.

8 Mar 2023

Mount Sinai researchers reveal mechanisms underlying autoimmunity in Down syndrome

Scientists at the Icahn School of Medicine at Mount Sinai in New York have identified which parts of the immune system go awry and contribute to autoimmune diseases in individuals with Down syndrome.

23 Feb 2023

Study reveals the mechanisms that prevent effective cancer cell death

Cancer is a disease driven by gene mutations. These mutated genes in cancer fall into two major categories: tumor suppressors and oncogenes. Mutations in tumor suppressor genes can allow tumors to grow unchecked – a case of no brakes – while mutations in oncogenes can activate cell proliferation, pushing the gas pedal all the way to the floor.

14 Feb 2023

A treatment strategy to hasten cancer cell death

Gene mutations are the cause of cancer. Tumor suppressors and oncogenes are the two main groups of these altered genes in cancer. Mutations in oncogenes can drive cell proliferation, pushing the gas pedal to the floor, whereas mutations in tumor suppressor genes can cause tumors to grow unchecked—a situation in which there is no control.

13 Feb 2023

Gene governing cell division could shield against Alzheimer’s

According to a recent study by researchers at the University of Colorado Anschutz Medical Campus, the overexpression of a gene linked to cell division and the structure and function of neurons could prevent and protect against cognitive deterioration in both mice and people with Alzheimer’s disease (AD).

28 Oct 2022

Genetic rat model shows robust Down syndrome features

In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.

15 Mar 2022

Study sheds light on blood and immune systems development in prenatal bone marrow

Researchers carried out the first extensive investigation of the formation of the blood and immune systems in the prenatal bone marrow.

4 Oct 2021

Study reveals how two separate DNA changes may predict aggressive childhood leukemias

New research published today in JAMA Oncology reports how two separate DNA changes appear to predict aggressive childhood leukemias when they occur in combination.

From The University of Utah 20 Aug 2021