Down’s Syndrome News and Research

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Verinata Health receives New York's Laboratory Permit for CLIA-certified verifi prenatal test

Illumina, Inc. (NASDAQ: ILMN) today announced that Verinata Health, an Illumina company, received the Clinical Laboratory Permit from the New York State Department of Health for its CLIA-certified, CAP-accredited laboratory.

2 Aug 2013

Researchers to study knowledge and satisfaction of women who choose DNA prenatal screening test

A recently available DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women is moving a step closer to use in the general pregnancy population.

From Natera 25 Jul 2013

State highlights: DOJ sues Fla. over keeping children in nursing homes

The U.S. Justice Department filed a lawsuit against Florida on Monday, accusing the state of unnecessarily institutionalizing about 200 disabled children in nursing homes and cutting services that would allow them to receive care at home (7/22).

24 Jul 2013

First Edition: July 23, 2013

Today's headlines include reports that the White House is enlisting celebrities to aid efforts to enroll young people in the health insurance plans that will kick in this fall as a result of the health law.

23 Jul 2013

Discovery provides evidence that genetic defect responsible for Down syndrome can be suppressed

Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also known as Down syndrome, a genetic disorder characterized by cognitive impairment.

18 Jul 2013

Judge blocks new Wis. abortion law; Texas rallies draw thousands

After a hastily called hearing, a federal judge Monday put a 10-day freeze on a new state law requiring doctors who perform abortions to have hospital-admitting privileges. In a 19-page opinion issued Monday evening, U.S. District Judge William M. Conley cited a "troubling lack of justification" for the law and said he would stay enforcement of the admissions provision until July 18, a day after a more deliberate courtroom hearing scheduled before him next week. … Conley's ruling does not affect a separate provision of the new law requiring women to undergo an ultrasound before having an abortion (Stein, 7/9).

10 Jul 2013

Action Medical Research funds three new Research Training Fellowships

Action Medical Research, the UK-wide charity funding vital research to help sick and disabled babies and children, has today announced it is funding three new Research Training Fellowships worth more than £470,000.

9 Jul 2013

Consanguineous marriages and older mothers increase risk of birth anomalies in children

Marriage between first cousins can more than double the risk of giving birth to a baby with a congenital anomaly (eg, heart and lung defects, Down syndrome), although the absolute risk is low, according to a multiethnic study of more than 11300 babies from the city of Bradford in the UK, published in The Lancet.

5 Jul 2013

FDA-approved formoterol drug improves cognitive function in mouse model of Down syndrome

An existing FDA-approved drug improves cognitive function in a mouse model of Down syndrome, according to a new study by researchers at the Stanford University School of Medicine.

3 Jul 2013

UNIGE researchers identify genomic variations associated with trisomy 21

Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency.

28 Jun 2013

Researchers provide insights into potential therapeutic approaches to Down syndrome

University of Michigan researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential therapeutic approaches to an aspect of the syndrome.

6 Jun 2013

Euro-Peristat project releases second European Perinatal Health Report

The European Perinatal Health Report released by the Euro-Peristat project is the most comprehensive report on the health and care of pregnant women and babies in Europe and brings together data from 2010 from 26 European Union member states, plus Iceland, Norway and Switzerland.

1 Jun 2013

More evidence of high oxidative stress levels found in Down syndrome neurons

Down syndrome, the most common genetic form of intellectual disability, results from an extra copy of one chromosome. Although people with Down syndrome experience intellectual difficulties and other problems, scientists have had trouble identifying why that extra chromosome causes such widespread effects.

28 May 2013

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.

From Natera 15 May 2013

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.

3 May 2013

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.

24 Apr 2013

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.

22 Apr 2013

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.

16 Apr 2013

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."

9 Apr 2013

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.

29 Mar 2013