Down’s Syndrome News and Research

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New control point for suppressing cancer cell growth

Dana-Farber Cancer Institute scientists have discovered new details of how cancer cells escape from tumor suppression mechanisms that normally prevent these damaged cells from multiplying. They also demonstrated a potential link between this cell proliferation control mechanism and the cognitive deficits caused by Down syndrome.

28 Apr 2011

Coquitlam student earns top prize in 2011 British Columbia SABC competition

Ground-breaking research by a 17-year-old Coquitlam student who found a way to observe the effects of ethanol on early brain development in an intact and awake brain has earned him the top prize in the 2011 British Columbia sanofi-aventis BioTalent Challenge.

22 Apr 2011

First Spouses support Down syndrome cognitive research

New Jersey Governor First Spouse Mary Pat Christie was joined by several other First Spouses from across the country in sponsoring the "Light the Way" event on March 21, 2011 to increase awareness of, and encourage support for, the rapidly advancing area of Down syndrome cognitive research.

21 Apr 2011

Trial of non-invasive prenatal test to determine Down syndrome successful

At the moment, the only reliable way of diagnosing chromosomal irregularities during pregnancy is to use invasive prenatal methods. This causes miscarriage in about one per cent of these risky surgical procedures.

14 Apr 2011

Latest issue of Current Problems in Pediatric and Adolescent Health Care provides valuable insights

How do we assess the current and future quality of life for infants and children with life-threatening conditions? In the April issue of Current Problems in Pediatric and Adolescent Health Care, "The Quality of Life of Young Children and Infants with Chronic Medical Problems," presents a collection of essays in which physicians, medical ethicists, parents, and caregivers address one of the most contentious topics in pediatric and clinical ethics today, the assessment of QoL.

12 Apr 2011

First-of-its-kind map of recombination hotspots in a multi-celled organism

Researchers have zoomed in on mouse chromosomes to map hotspots of genetic recombination - sites where DNA breaks and reforms to shuffle genes. The findings of the scientists at the National Institutes of Health and Uniformed Services University of Health Sciences (USU) have the potential to improve the detection of genes linked to disease and to help understand the root causes of genetic abnormalities.

6 Apr 2011

Roundup: Fla. moves closer to Medicaid overhaul; Abortion provisions advance in Va., Kan. and Iowa

The Florida House on Thursday approved a statewide proposal to shift Medicaid beneficiaries into managed-care plans. ... Supporters said the plan would improve care for Medicaid beneficiaries, reduce widespread fraud and control costs in the $20 billion program.

1 Apr 2011

Scientists develop new method for gene regulation study

Scientists at the European Molecular Biology Laboratory in Heidelberg, Germany, have developed a new method for studying gene regulation, by employing a jumping gene as an informant. Published online today in Nature Genetics, the new method is called GROMIT.

22 Mar 2011

Low calorie diet may delay or prevent aging and neurodegenerative diseases

Cells, which employ a process called autophagy to clean up and reuse protein debris leftover from biological processes, were the original recyclers. A team of scientists from Paul Greengard's Rockefeller University laboratory have linked a molecule that stimulates autophagy with the reduction of one of Alzheimer's disease's major hallmarks, amyloid peptide.

17 Mar 2011

New UCSD center investigates link between Alzheimer's and Down syndrome

A new center combining academic research with the treatment of adults with Down syndrome - one of the first in the country - has opened at the University of California, San Diego School of Medicine.

15 Mar 2011

Down’s syndrome could be detected in mother’s blood test

European researchers have devised a blood test that could help pregnant women avoid the invasive procedures now used to diagnose Down syndrome prenatally and make the diagnosis with 100% accuracy. The study report was published this Sunday in Nature Medicine.

7 Mar 2011

Novel gene therapy can promote removal of amyloid plaques and prevent Alzheimer's disease

Gene therapy that boosts the ability of brain cells to gobble up toxic proteins prevents development of Alzheimer's disease in mice that are predestined to develop it, report researchers at Georgetown University Medical Center. They say the treatment - which is given just once - could potentially do the same in people at the beginning stages of the disease.

5 Mar 2011

NanoString launches fixed-panel assay product for human molecular karyotyping

NanoString Technologies, Inc., a privately held life sciences company marketing a complete solution for detecting and counting large sets of target molecules in biological samples, today announced the first fixed-panel assay product to be developed on its Copy Number Variation detection platform - the nCounter Human Karyotype Panel.

From NanoString Technologies 22 Feb 2011

New study: Latino siblings of children with disability may face risk of negative outcomes

Latino siblings of children developmental disabilities such as Down syndrome and autism may face their own challenges, including anxiety and lower school performance, according to a new study led by researchers with the Bradley Hasbro Children's Research Center.

17 Feb 2011

Functional tests are necessary to understand human disease despite genetic sequencing

Despite what you might have heard, genetic sequencing alone is not enough to understand human disease. Researchers at Duke University Medical Center have shown that functional tests are absolutely necessary to understand the biological relevance of the results of sequencing studies as they relate to disease, using a suite of diseases known as the ciliopathies which can cause patients to have many different traits.

24 Jan 2011

BMJ publishes clinical study of noninvasive, plasma DNA-based approach for prenatally detecting Down's syndrome

Sequenom is very pleased to note the publication in the British Medical Journal of a groundbreaking international study led by our longstanding collaborator, Professor Dennis Lo of The Chinese University of Hong Kong.

13 Jan 2011

Brain cell destroying genetic mechanism responsible for development of AD

Researchers at the University of British Columbia and Vancouver Coastal Health Research Institute have discovered that the genetic mechanism which destroys brain cells is responsible for early development of Alzheimer's Disease in people with Down Syndrome and for development of Alzheimer's Disease in general population - providing a potential new target for drugs that could forestall dementia in people with either condition.

13 Jan 2011

New Down syndrome non-invasive test for ‘mums-to-be’ on the horizon

According to experts a simple DNA test for Down syndrome could save nearly all pregnant women from invasive tests like amniocentesis. Usually 3% to 5% of pregnant women in the UK or some 30,000 women have to undergo invasive tests like amniocentesis that increases the risk of miscarriage to 1%. The new DNA blood test could bring this down to 0.1%, according to a study in the British Medical Journal.

12 Jan 2011

DNA blood test can help rule out Down's syndrome among high risk pregnancies

The blood test could mean that 98% of invasive procedures could be avoided, say the authors. The test uses the latest DNA technology to analyse genetic components in the mother's blood that indicate whether the foetus has Down's.

12 Jan 2011

Children with developmental disabilities face obstacles in intervention services

A new community-based study by UC Davis researchers has found that children with developmental disabilities in Southeast-Asian-American families face significant obstacles to receiving intervention services. Barriers include lack of accurate information, language difficulties, lack of trust and limited outreach.

3 Dec 2010