Down’s Syndrome News and Research

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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

Major contributing factor to maternal age-associated increase in aneuploidy identified

University of Pennsylvania biologists studying human reproduction have identified what is likely the major contributing factor to the maternal age-associated increase in aneuploidy, the term for an abnormal number of chromosomes during reproductive cell division.

9 Sep 2010

New insight into infertility in older women

Scientists now are closer to understanding why older women become less fertile, suffer a miscarriage or have a baby with Down's syndrome. This could be ground breaking in infertility treatment in the older women in their late 30s and early 40s.

3 Sep 2010

ISWG researchers establish guidelines for diagnosis and treatment of infantile spasms

Researchers from across the U.S., as part of the Infantile Spasms Working Group (ISWG), established guidelines for the diagnosis and treatment of infantile spasms (IS). The goal of the ISWG is to improve patient outcomes by creating protocols that educate pediatricians on early diagnosis and treatment options. Full details of this study appear online in Epilepsia, a journal published by Wiley-Blackwell on behalf of the International League Against Epilepsy.

3 Sep 2010

Battery of tests for quick assessment of cognitive abilities in Down syndrome patients

Neuroscientists in the Down Syndrome Research Group at the University of Arizona have created a battery of tests that quickly aid in the assessment of the cognitive abilities of persons with Down syndrome.

27 Aug 2010

Researchers discover unusual property of meiosis may lead to Down syndrome

In a study of egg cells using time-lapse microscopy, researchers at the University of California, San Diego School of Medicine and the Ludwig Institute for Cancer Research have discovered an unusual property of meiosis - cell division that produces reproductive cells in sexually reproducing organisms.

23 Aug 2010

NSF issues award to develop techniques for analyzing children's behavior

A team led by the Georgia Institute of Technology has received a $10 million "Expeditions in Computing" award from the National Science Foundation (NSF) to develop novel computing techniques for measuring and analyzing the behavior of children.

20 Aug 2010

Jackson Laboratory to implement HighRes automated process for genotyping of laboratory mice

A highly accurate, automated process for managing the genotyping of laboratory mice is headed to Bar Harbor, Maine. In response to the increased demand for using transgenic mouse models and the requisite genotyping of such animals, The Jackson Laboratory will be implementing a HighRes Biosolutions automated process to improve the maintenance of their extensive and diverse mouse colonies.

17 Aug 2010

DynaVox releases software Version 2.0 for Xpress communication device

DynaVox, the leading provider of speech generating devices and symbol-adapted special education software used to assist individuals in overcoming speech, language and learning challenges, announces the release of software Version 2.0 for the DynaVox Xpress device. A compact, stylish handheld communication device with a new more intuitive user interface combines powerful InterAACt™ communication tools and resources with popular control and navigation features generally found only on mainstream technologies

10 Aug 2010

Modified music program improves speech skills in children with Down syndrome: Study

Advanced Brain Technologies today announced results demonstrating that a modified music program followed for ten weeks, improved speech skills in children with Down syndrome. The results of the study, conducted in Nottingham, United Kingdom, were published Monday, in an early online before print version of the article scheduled to appear in the journal Music and Medicine.

5 Aug 2010

Genetics research team discovers new recurrent translocations

A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing copies of genes.

30 Jul 2010

Choice between late-term abortion or keeping an unhealthy foetus

Most pregnant women whose foetus is proven to have a genetic abnormality choose to have an abortion, but reaching that decision is a painful, exhausting process for most of them. "The women's doubt, pain and sorrow make abortion more moral - in the eyes of society as well as her own," says Sølvi Marie Risøy, a researcher at the Stein Rokkan Centre for Social Studies, University of Bergen.

23 Jul 2010