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Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.

Potential therapeutic strategy to improve cognition in Down syndrome identified: DSRTF

21. November 2009 01:36
The Down Syndrome Research and Treatment Foundation (DSRTF) announces the identification of a new potential therapeutic strategy to address cognitive decline and improve cognition in Down syndrome. The findings were published in Science Translational Medicine on November 18, 2009 by DSRTF-supported researchers, Drs. Ahmad Salehi, William Mobley, and colleagues at Stanford and UCSD Schools of Medicine. [More]

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Genetic sonogram improves accuracy of noninvasive prenatal screening and detection of Down syndrome

21. November 2009 00:02
The addition of a "genetic sonogram" maximizes the accuracy of non-invasive testing for Down syndrome, said a Baylor College of Medicine researcher who was lead author of a landmark study in the current issue of Obstetrics and Gynecology. [More]

Cytoskeleton plays a critical role to bring chromosome pairs together: Study

16. November 2009 06:22
Meiosis - the pairing and recombination of chromosomes, followed by segregation of half to each egg or sperm cell - is a major crossroads in all organisms reproducing sexually. Yet, how the cell precisely choreographs these chromosomal interactions is a long-standing question. [More]

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DSALA "15th Annual Buddy Walk" to raise awareness about Down syndrome

13. November 2009 07:11
15th Annual Buddy Walk and Festival for the Down Syndrome Association of Los Angeles. Buddy Walks are a national event of the National Down Syndrome Society held across the United States each fall to bring awareness and support to individuals born with Down syndrome and their families. [More]

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Xenomics sues Sequenom

29. October 2009 08:07
Xenomics, Inc. a developer of trans-renal molecular diagnostic technologies, announced today that it has filed a complaint against Sequenom, Inc. in the Supreme Court of the State of New York alleging that Sequenom fraudulently misrepresented to Xenomics the status of its testing for Down Syndrome and based upon such conduct, Xenomics was induced to enter into a license agreement with Sequenom thereby giving up various valuable patent rights. [More]

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New chromosomal abnormality in acute lymphoblastic leukemia

19. October 2009 04:53
Researchers identified a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that appears to work in concert with another mutation to give rise to cancer. This latest anomaly is particularly common in children with Down syndrome. [More]

Study discusses possible genetic effects of radiation and cancer drug exposures on future generations

8. October 2009 04:05
Researchers at the University of Oklahoma Health Sciences Center are helping to lead a massive international study on the possible genetic effects of radiation and cancer drug exposures on future generations. [More]

Posted in: Device / Technology News | Medical Condition News

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Physicians should implement new measures while diagnosing prenatal Down syndrome

28. September 2009 01:53
New prenatal tests for Down syndrome are soon to be offered to all pregnant women across the United States, yet telling an expectant couple that their child will be born with Down syndrome is a task very few physicians are trained for, claims research published in the American Journal of Medical Genetics. [More]

Posted in: Child Health News | Medical Condition News

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Online portal for parents of children with disabilities

24. September 2009 04:49
United Cerebral Palsy (UCP), today announced the launch of My Child Without Limits (MyChildWithoutLimits.org), UCP's pioneering initiative that provides parents of children with disabilities an online resource with critical information that also connects parents to a vital social network of parents of newly diagnosed children ages 0 to 5. [More]

Posted in: Child Health News | Device / Technology News

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'Pathway to a Cure' walk event in California

18. September 2009 05:20
Satellite Healthcare, one of the nation's first and leading providers of kidney dialysis services and a major sponsor of nephrology research, today announced their sponsorship of The Polycystic Kidney Disease Foundation's "Pathway to a Cure" walk event in California's capital of Sacramento. [More]

Link between a key molecular player and human chromosomal birth defects established

17. September 2009 03:09
Using yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis, a cell biologist at The Florida State University found that when a key molecular player known as Pds5 goes missing, chromosomes fail to segregate and pair up properly, and birth defects such as Down syndrome can result. [More]

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Prenatal testing helps to bring down the birth rate of babies with Down syndrome

14. September 2009 11:44
With new prenatal tests for Down syndrome on the horizon promising to be safer, more accurate, and available to women earlier in pregnancy, the medical community must come together and engage in dialogue about the impact of existing and expected tests, argues a new leading article published Online First by Archives of Disease in Childhood. [More]

Posted in: Medical Condition News | Women's Health News

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Fluidigm manufactures more than 250 million microscopic NanoFlex valves at its Singapore biochip factory

27. August 2009 05:03
Fluidigm today announced that its Singapore biochip factory has manufactured and shipped more than 250 million microscopic NanoFlex™ valves. The 250 million valves built into Fluidigm’s integrated fluidic circuits (IFCs) would be equivalent to the number of valves required for all the conventional plumbing – both residential and commercial – in a metropolitan region the size of the San Francisco Bay Area. [More]

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New research tool – map of genomic variation for diagnosing and identifying genetic problems

15. July 2009 17:30
Genetics researchers have unveiled a powerful new resource for scientists and health providers studying human illnesses -- a reference standard of deletions and duplications of DNA found in the human genome. Drawn from over 2,000 healthy persons, the study provides one of the deepest and broadest sets of copy number variations (CNVs) available to date, along with a new research tool for diagnosing and identifying genetic problems in patients. [More]

Oxidative stress strongly evident in the in-utero environment of the fetus with Down syndrome

2. June 2009 20:05
A paper published in the Proceedings of the National Academy of Sciences by Tufts Medical Center and Tufts University researchers reports that amniotic fluid surrounding Down syndrome fetuses shows oxidative stress, a condition that could harm fetal cells and play a role in affected individuals. The results demonstrate secondary adverse consequences of Down syndrome and suggest potential prenatal therapies. [More]

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