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Latest Copy number variation Stories

2013-06-24 23:18:15

Researchers are gaining a better understanding of the complex genetic underpinnings of Alzheimer's, potentially leading to new treatment options for the disease. Boston (PRWEB) June 24, 2013 Research uncovering 12, new gene variations connected to the cause of the early-onset familial form of Alzheimer’s disease (EO-FAD), which generally strikes before the age of 65, is being published in the journal Molecular Psychiatry. The Cure Alzheimer’s Fund-supported research conducted a...

2013-02-05 10:30:49

CHOP researchers compared young to old populations, identified CNVs conferring long-term risk or protection By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease. "This research is the first genome-wide, population-based study of copy number variations in children associated with human longevity," said study leader Hakon Hakonarson,...

Gene Variants In Autistic Patients Identified
2013-01-15 18:33:10

Lee Rannals for redOrbit.com — Your Unvierse Online Researchers wrote in the journal PLOS ONE they have identified 25 additional copy number variations (CNVs) which occur in some patients with autism. These CNVs are "high impact," and although they are individually rare, each one has a strong effect in raising an individual's risk for autism. "Many of these gene variants may serve as valuable predictive markers," the study's corresponding author, Hakon Hakonarson, MD, PhD,...

2012-06-22 06:14:38

(Ivanhoe Newswire) -- Approximately three out of every 1,000 people in the United States suffer from some degree of Autism. Now, a new study is looking at why this happens by studying your genes. Researchers at UCLA are conducting a study to explain why one person has an ASD (autism spectrum disorder) and another does not. The study pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. ASDs are a heterogeneous group of...

2012-06-21 20:56:41

A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any...

2012-05-16 23:33:22

What can a fish tell us about human brain development? Researchers at Duke University Medical Center transplanted a set of human genes into a zebrafish and then used it to identify genes responsible for head size at birth. Researchers at Duke University Medical Center transplanted a set of human genes into a zebrafish and then used it to identify genes responsible for head size at birth. Head size in human babies is a feature that is related to autism, a condition that recent figures...

2012-04-09 21:46:42

Discovery of inherited-genetic variations may help assess a patient's risk of life-threatening disease before it strikes An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer. The findings, published online today in the Proceedings of the National Academy of Sciences (PNAS), indicate a man's risk of developing prostate cancer either triples or...

2011-12-21 22:45:31

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, reports that abnormal sequences of DNA known as rare copy number variants, or CNVs, appear to play a significant role in the risk for early onset bipolar disorder. The findings will be published in the Dec. 22 issue of the journal Neuron. CNVs are genomic alterations in which there are too few or too many copies of sections of DNA. Researchers have known that...

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2011-11-24 11:27:46

We all understand that genetics determine our height, but scientists want to dig in deeper and find which genes might be directly responsible. Scientists have released a study, published by Cell Press in the December issue of the American Journal of Human Genetics, suggesting that uncommon genetic deletions are associated with short stature. Researchers are focusing on genetic abnormalities, known as copy number variants (CNV), which are alterations within the chromosome that determine if...


Word of the Day
endocarp
  • The hard inner (usually woody) layer of the pericarp of some fruits (as peaches or plums or cherries or olives) that contains the seed.
This word comes from the Greek 'endon,' in, within, plus the Greek 'kardia,' heart.
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