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.
First Evidence of Oocyte Cohesion Rejuvenation Discovered in Fruit Flies

First Evidence of Oocyte Cohesion Rejuvenation Discovered in Fruit Flies

New Platform Reveals Individual Sensitivity to Disease-Causing Mutations

New Platform Reveals Individual Sensitivity to Disease-Causing Mutations

Unveiling the Diversity and Evolutionary Dynamics of Centromeres Across Primates

Unveiling the Diversity and Evolutionary Dynamics of Centromeres Across Primates

Cryo-EM Imaging Unveils Similar Protein Structures in Alzheimer's and Down Syndrome

Cryo-EM Imaging Unveils Similar Protein Structures in Alzheimer's and Down Syndrome

Ancient DNA Study Finds Evidence of Chromosomal Disorders

Ancient DNA Study Finds Evidence of Chromosomal Disorders

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

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

New Test Scrutinizes All Fetal Genes for Early Disease Detection

New Test Scrutinizes All Fetal Genes for Early Disease Detection

Immune Cell Movement Influenced By Water and Ion Influx

Immune Cell Movement Influenced By Water and Ion Influx

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

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

Deep Learning Model Accurately Predicts RNA-Targeting CRISPR Activity

Deep Learning Model Accurately Predicts RNA-Targeting CRISPR Activity

Researchers Identify Genes Responsible for Craniofacial Dysmorphology in Down Syndrome

Researchers Identify Genes Responsible for Craniofacial Dysmorphology in Down Syndrome

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

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

Novel Protein Involved in Tumor Suppression Identified

Novel Protein Involved in Tumor Suppression Identified

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

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

Mount Sinai researchers reveal mechanisms underlying autoimmunity in Down syndrome

Mount Sinai researchers reveal mechanisms underlying autoimmunity in Down syndrome

Study reveals the mechanisms that prevent effective cancer cell death

Study reveals the mechanisms that prevent effective cancer cell death

A treatment strategy to hasten cancer cell death

A treatment strategy to hasten cancer cell death

Gene governing cell division could shield against Alzheimer’s

Gene governing cell division could shield against Alzheimer’s

Genetic rat model shows robust Down syndrome features

Genetic rat model shows robust Down syndrome features

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

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

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