Down Syndrome News and Research

Latest Down Syndrome News and Research

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

FDA accepts IND application to initiate human clinical trial to evaluate BNC

QR Pharma, Inc., a developer of novel drugs to treat Alzheimer's disease (AD), announced today that the United States Food and Drug Administration (FDA) has accepted the Investigational New Drug application (IND) to begin human clinical trials and evaluate the safety and efficacy of the company's second product, bisnorcymserine (BNC).

3 Dec 2010

Tension-dependent stabilization helps chromosome separation machinery

Scientists have discovered an amazingly simple way that cells stabilize their machinery for forcing apart chromosomes. Their findings are reported Nov. 25 in Nature.

25 Nov 2010

Today's Op-Eds: Competition among insurers; health reform and hospital cuts; Medicare reimbursement crisis

The effect of the regulation will be to drive many small insurers from the market and thus to reduce competition for health insurance. The question is whether a reduction in the number of insurers in a given market area invariably is to the disadvantage of the insured. On this point one's memories of Econ 101 can be quite misleading.

30 Oct 2010

Brainwave to open twenty first shop at Taunton

On the 29 October 2010, Brainwave will open their twenty first shop at 2 Priorswood Place Taunton, following the success of their existing Taunton store at 106 Roman Road.

25 Oct 2010

Specific orofacial characteristics can lead to accurate diagnosis of fetal alcohol spectrum disorders

Fetal alcohol spectrum disorders (FASD) is an umbrella term that describes the range of effects that can occur in a person whose mother drank alcohol while pregnant. Each year, FASD affect an estimated 40,000 infants in the United States—more than spina bifida, Down syndrome, and muscular dystrophy combined.

22 Sep 2010

QR Pharma and MUSC receive $220,000 SBIR grant to study Posiphen in AD transgenic mice

QR Pharma, Inc., a clinical-stage specialty pharmaceutical company committed to developing therapeutics with novel approaches for the treatment of cognitive impairment and Alzheimer's disease and the Medical University of South Carolina (MUSC) announced today that they received a Small Business Innovation Research (SBIR) phase I grant in the amount of $220,000 to study Posiphen® and its metabolites in cell culture and in transgenic Alzheimer mice.

22 Sep 2010

Penn study reveals structure of cell division's key molecule

On average, one hundred billion cells in the human body divide over the course of a day. Most of the time the body gets it right but sometimes, problems in cell replication can lead to abnormalities in chromosomes resulting in many types of disorders, from cancer to Down Syndrome.

18 Sep 2010

Research on signaling pathways may help to design therapy for neurodevelopmental disorders

Researchers at the Center for Neuroscience Research at Children's National Medical Center have discovered that the two major types of signaling pathways activated during brain cell development-the epidermal growth factor receptor pathway and the Notch pathway-operate together to determine how many and which types of brain cells are created during growth and repair in developing and adult brains.

17 Sep 2010

U of A team on cusp of developing simple predictive test for preeclampsia

A team of researchers from the University of Alberta is on the cusp of developing a simple test to accurately predict which women will develop preeclampsia - a condition that affects 4 million women a year and can result in the deaths of both mothers and their babies.

14 Sep 2010

Kennedy Krieger Institute receives grant for Alzheimer's disease research in Down syndrome patients

Early signs of Alzheimer's disease can be difficult to distinguish from the normal aging process in any older adult. For adults with Down syndrome, who are particularly vulnerable to Alzheimer's disease, it is even more so. Because effective intervention needs to begin as early in the disease process as possible, prior to the onset of the irreversible impacts on the brain that are characteristic of this devastating disease, early diagnosis is of critical importance. To address crucial gaps in knowledge about Alzheimer's disease in adults with Down syndrome, the Kennedy Krieger Institute has been awarded an $8.5 million grant from the National Institutes of Health (NIH).

10 Sep 2010

Down Syndrome News and Research

Latest Down Syndrome News and Research

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

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

NanoString launches fixed-panel assay product for human molecular karyotyping

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

Functional tests are necessary to understand human disease despite genetic sequencing

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

Brain cell destroying genetic mechanism responsible for development of AD

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

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

Children with developmental disabilities face obstacles in intervention services

FDA accepts IND application to initiate human clinical trial to evaluate BNC

Tension-dependent stabilization helps chromosome separation machinery

Today's Op-Eds: Competition among insurers; health reform and hospital cuts; Medicare reimbursement crisis

Brainwave to open twenty first shop at Taunton

Specific orofacial characteristics can lead to accurate diagnosis of fetal alcohol spectrum disorders

QR Pharma and MUSC receive $220,000 SBIR grant to study Posiphen in AD transgenic mice

Penn study reveals structure of cell division's key molecule

Research on signaling pathways may help to design therapy for neurodevelopmental disorders

U of A team on cusp of developing simple predictive test for preeclampsia

Kennedy Krieger Institute receives grant for Alzheimer's disease research in Down syndrome patients

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

Down Syndrome News and Research

Latest Down Syndrome News and Research

Small solutions for big problems in drug discovery and delivery

Professor Nancy Ip: Pioneering New Paths in Neurodegenerative Therapy

Utilizing process Raman in optimizing cultivated meat production

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