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Latest Chromosomal abnormalities Stories

2014-04-09 08:29:15

PHILADELPHIA, April 9, 2014 /PRNewswire/ -- On April 5, 2014, the 20(th) anniversary of the death of Dr. Jerome Lejeune was marked with great celebration in Paris. Dr. Jerome Lejeune died there on April 3, 1994. To his family and "little ones" - as he always called his patients affected by Down syndrome - he was a remarkable man of science who was motivated by a profound love for those he served. He was a father of 5 who dedicated his life to his family, and to the service of his...

2013-10-23 11:27:14

Genome-wide changes result from silencing extra chromosome, scientists report at ASHG 2013 The first evidence that the underlying genetic defect responsible for trisomy 21, also known as Down syndrome, can be suppressed in laboratory cultures of patient-derived stem cells was presented today (Oct. 22) at the American Society of Human Genetics 2013 annual meeting in Boston. People with Down syndrome are born with an extra chromosome 21, which results in a variety of physical and...

2013-07-24 23:24:55

The media has recently been filled with headlines proclaiming that Down syndrome has been “cured”. These statements are not accurate, but that is not to say the findings are without significance. Philadelphia, PA (PRWEB) July 24, 2013 The media has recently been filled with headlines proclaiming that Down syndrome has been “cured”. Down syndrome, or trisomy 21, is the most common survivable chromosomal abnormality and is caused by the presence at conception of a third copy of...

Down's Syndrome Genes Shut Off In New Breakthrough
2013-07-18 05:30:06

Susan Bowen for redOrbit.com - Your Universe Online Scientists at the University of Massachusetts Medical School have made a huge breakthrough in our understanding of Down's syndrome. They reported in the online science journal Nature, that in a lab, they have switched off the extra chromosome that causes the disorder in humans. This is the proof-of-principal that opens the doorway for exciting new discoveries about this condition. Down's syndrome is the world's leading genetically...

2013-06-07 12:48:20

New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. Published early online in Ultrasound in Obstetrics & Gynecology, the results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing. Current screening for Down's syndrome, or trisomy 21, and...

Understanding Why Cholesterol Is Linked To Alzheimer's And Heart Disease
2013-04-16 12:15:42

Michael Harper for redOrbit.com — Your Universe Online Multiple studies have concluded high amounts of cholesterol can be damaging to your heart and can, in turn, lead to Alzheimer´s disease or stroke. Though this single fact has been well documented, the exact reason why high cholesterol affects the brain has been largely unclear for many years. Researchers from the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have studied this...


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.