Down’s Syndrome News and Research

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Deficiency in SNX27 explains learning impairment in Down's syndrome

Scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have identified the precise role of the protein, SNX27, in the pathway leading to memory and learning impairment.

20 Feb 2014

Natera initiates distribution partnership with ProPath for Panorama non-invasive prenatal screening test

Natera, a leading innovator in prenatal genetic testing, today announced the initiation of a distribution partnership with ProPath, a wholly physician-owned provider of pathology services to clinicians and medical facilities in the United States, for its Panorama non-invasive prenatal screening test (NIPT).

From Natera 12 Feb 2014

Study: Noninvasive prenatal testing detects 83.2% of chromosomal abnormalities

In a study to be presented on Feb. 6 at 9 a.m. CST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting-, in New Orleans, researchers will report that noninvasive prenatal testing detected 83.2 percent of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling (CVS) or amniocentesis.

4 Feb 2014

Women ages 35+ are at decreased risk of having child with congenital malformation

In a study to be presented on Feb. 6 at 3 p.m. CST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting-, in New Orleans, researchers will report that women ages 35 and older are at a decreased risk of having a child with a major congenital malformation, after excluding chromosomal abnormalities.

4 Feb 2014

Obama urges Americans to sign up for coverage in State of the Union

The president extolled the health law during his State of the Union address, describing those who are benefiting and challenging Republicans for their ideas. Utah Sen. Mike Lee hit back, calling the law "an inequality Godzilla that has robbed working families of their insurance, their doctors, their wages and their jobs," while Washington Rep. Cathy McMorris Rodgers cited its troubled rollout.

29 Jan 2014

First Edition: January 29, 2014

Today's headlines include reports about how the health law played in last night's State-of-the-Union address by President Barack Obama.

29 Jan 2014

New Access Total βhCG (5th IS) assay from Beckman Coulter receives FDA clearance and is granted CE Mark for Europe

Aligned with its commitment to help move reproductive health management forward, Beckman Coulter Diagnostics has received clearance for its new Access Total βhCG (5th IS) assay from the U.S. Food and Drug Administration (FDA) 510(k), as well as being granted the CE Mark specifically for Europe.

16 Jan 2014

New study aims to better understand brain aging and AD in adults with Down syndrome

To many, Down syndrome is a childhood condition. But improved health care means that individuals with DS now routinely reach age 50 or 60 years of age, sometimes beyond. However, if they live long enough, people with Down syndrome are almost certain to develop Alzheimer's disease.

17 Dec 2013

Four U.S. researchers to receive grants to improve cognition in individuals living with Down syndrome

The Scientific Advisory Board of the Jerome Lejeune Foundation USA has recommended 4 U.S. researchers to receive grants from the Foundation for its second funding cycle of 2013.

15 Dec 2013

Researchers recommend strategies to improve overall wellbeing of adults with developmental disabilities

Adults with developmental disabilities such as autism and Down syndrome are having a harder time accessing health care even though they have more health issues than people without developmental disabilities, according to research done at the Institute for Clinical Evaluative Sciences and the Centre for Addiction and Mental Health.

13 Nov 2013

LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

Loyola University Health System (LUHS) now offers chorionic villus sampling (CVS), a highly accurate prenatal test for chromosomal abnormalities in the fetus. Loyola is one of the few centers in the Chicago area to offer CVS.

12 Nov 2013

Scientists receive $1.2M grants to explore development of AD in individuals with Down syndrome

Donna Wilcock of the University of Kentucky Sanders-Brown Center on Aging is the lead investigator on a recently-funded project exploring the links between Alzheimer's disease and Down Syndrome. Elizabeth Head, also of Sanders-Brown Center on Aging, is a co-investigator on the project.

10 Nov 2013

Complete Care program improves outcomes for Kaiser Permanente patients

Complete Care, a collaborative approach to meeting patient needs, is improving outcomes for Kaiser Permanente patients.

23 Oct 2013

IVF and chromosome testing: an interview with Dr. Santiago Munné

The Society for Assisted Reproductive Technology (SART) releases every year a report on pregnancy rates by maternal age. The last one shows a decline on implantation rates per embryo from 36% in young women, to 27.3% in women 35-37, 17.5% in 38-40, and less than 10% above 40 years of age.

10 Oct 2013

Standoff between a mutated gene and normal counterpart keeps certain cancer cells alive

What keeps leukemia cells alive almost forever, able to continue dividing endlessly and aggressively? New research at the Weizmann Institute suggests that, in around a quarter of all leukemias, the cancer cells rely on an internal "balance of terror" to keep going.

1 Oct 2013

BGI Health to introduce NIFTY screening test to reduce miscarriages

BGI Health is marking Baby Loss Awareness Week (9-15 October) with the launch of a new non-invasive screening test for Down’s Syndrome and other conditions, which can reduce the risk of miscarriage significantly compared with other, potentially unnecessary invasive procedures, according to recent studies.

1 Oct 2013

Elan enrolls first patient dosing in phase 2a study of ELND005 in Down syndrome

Elan Corporation, plc (NYSE: ELN) announced today the first patient dosing in a Phase 2a study of ELND005 in Down syndrome. Study ELND005-DS201 will evaluate the safety and pharmacokinetics of 2 doses of ELND005 and placebo in young adults with Down syndrome without dementia, and will also include select cognitive and behavioural measures.

5 Sep 2013

Parents use bibliotherapy as a tool to help kids facing social issues

A new study out of the University of Cincinnati not only finds that parents feel responsible for taking action when their children struggle with social issues, but also that parents are influenced by their own childhood memories when it comes to dealing with their kids problems.

12 Aug 2013

Risk for childhood cancer moderately increased among adolescents with major birth defects

A multistate study led by researchers at the University of Utah has revealed that the risk for childhood cancer is moderately increased among children and young adolescents with certain types of major birth defects.