Down Syndrome News and Research RSS Feed - Down Syndrome News and Research

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.

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

Natera, a leading innovator in prenatal genetic testing, and Echevarne, a leading clinical analysis laboratory in Spain, today announced the signing of a distribution agreement for Echevarne to offer Natera's non-invasive prenatal screening test, Panorama, through its facilities in Spain. [More]
Researchers describe alterations in long noncoding RNA sequences in Rett syndrome

Researchers describe alterations in long noncoding RNA sequences in Rett syndrome

Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding long chain RNA sequences in Rett syndrome. [More]
Verinata Health provides follow-up data on Verifi prenatal test

Verinata Health provides follow-up data on Verifi prenatal test

Illumina, Inc. today announced that Verinata Health, an Illumina company, has published the first peer-reviewed study of non-invasive prenatal test (NIPT) performance in a clinical laboratory setting. [More]
Viewpoints: Time to confirm Tavenner; 'Self-defeating' GOP plan for prevention fund; Parents need insurance too

Viewpoints: Time to confirm Tavenner; 'Self-defeating' GOP plan for prevention fund; Parents need insurance too

The Senate Finance Committee is scheduled to hold a long-overdue vote on Tuesday on President Obama's nominee to lead the embattled agency responsible for overseeing Medicare, Medicaid and the implementation of health care reforms. [More]
Study: Stem cell transplant heals neurological deficits in mice

Study: Stem cell transplant heals neurological deficits in mice

For the first time, human embryonic stem cells have been transformed into nerve cells that helped mice regain the ability to learn and remember. [More]
High levels of blood cholesterol increase risk of AD and heart disease

High levels of blood cholesterol increase risk of AD and heart disease

Researchers at the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have found that a single mechanism may underlie the damaging effect of cholesterol on the brain and on blood vessels. [More]
New ACMG statement on Noninvasive Prenatal Screening for Fetal Aneuploidy

New ACMG statement on Noninvasive Prenatal Screening for Fetal Aneuploidy

The American College of Medical Genetics and Genomics has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." [More]

Researchers at UC Davis MIND Institute to establish Autism Center of Excellence and Treatment Network

Autism researchers at the UC Davis MIND Institute have received a prestigious $13 million award from the National Institutes of Health to establish an Autism Center of Excellence and Treatment Network, making the MIND Institute one of only nine such centers in the United States. [More]
Viewpoints: Budget woes leave Democrats with painful choices; David Kessler on health hazards of antibiotics in meat; the pros and cons of not hiring smokers

Viewpoints: Budget woes leave Democrats with painful choices; David Kessler on health hazards of antibiotics in meat; the pros and cons of not hiring smokers

USA Today: Entitlements Or Investment? Democrats Must Pick
Democrats therefore face a fundamental and inescapable choice: they can support funding current consumption, especially by older Americans who are not working, or future investment, particularly in scientific research and innovation. [More]
Researchers shed new light on role of methylation in gene expression

Researchers shed new light on role of methylation in gene expression

Researchers at UC Davis and the University of British Columbia have shed new light on methylation, a critical process that helps control how genes are expressed. [More]
Study reveals role of SNX27 protein in brain function

Study reveals role of SNX27 protein in brain function

What is it about the extra chromosome inherited in Down syndrome-chromosome 21-that alters brain and body development? Researchers at Sanford-Burnham Medical Research Institute have new evidence that points to a protein called sorting nexin 27, or SNX27. [More]

Pregnancy-associated plasma protein A predicts cardiovascular events: Study

Higher levels of pregnancy-associated plasma protein A were associated with an increased risk of cardiovascular events in people with cardiac chest pain that developed as a result of heart disease/coronary artery disease, according to a study published in CMAJ. [More]

Study suggests screening tests to identify children with down syndrome who have OSA

Researchers at the University of Southampton are planning to investigate tests for a breathing disorder that affects babies and children who have Down syndrome while they sleep. They aim to provide the missing evidence so that doctors can introduce affordable and simple routine screening. [More]

Breathing disorder tests for Down syndrome children to be investigated by researchers at the University of Southampton

Researchers at the University of Southampton are planning to investigate tests for a breathing disorder that affects babies and children who have Down syndrome while they sleep. They aim to provide the missing evidence so that doctors can introduce affordable and simple routine screening. [More]
Research finding aids efforts toward cytomegalovirus vaccine

Research finding aids efforts toward cytomegalovirus vaccine

A virus most people probably have never heard of, but that the majority of us carry, is the No. 1 infectious cause of congenital birth defects in the U.S. today. Because of cytomegalovirus (CMV) infection during in utero development, 1 in 750 children are born with or develop permanent disabilities such as hearing loss or brain damage. [More]
Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome. [More]
Study shows slow-growing babies reach normal weights by early teens

Study shows slow-growing babies reach normal weights by early teens

New parents are pleased when their baby gains weight as expected, but if the rate of weight gain is slow parents can become worried and concerned about their child's future size. [More]

University of Alberta researchers help children with Down syndrome

Researchers from the University of Alberta are helping children with Down syndrome who stutter find their voice and speak with ease. [More]
Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera. [More]
Computer-based cognitive/behavioral training program can benefit patients with fragile X

Computer-based cognitive/behavioral training program can benefit patients with fragile X

Researchers at the UC Davis MIND Institute will examine whether children and youth with fragile X syndrome can improve their working memory, cognition and behavior by using an online computer-based cognitive training program, through a new $1 million grant from The John Merck Fund. [More]