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Latest Copy number variation Stories

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,...

2013-01-15 12:26:44

--Copy Number Variants, While Rare, Have Strong Effects; May Have Value in Predictive Tests for Children-- PHILADELPHIA, Jan. 15, 2013 /PRNewswire-USNewswire/ -- Genetics researchers have identified 25 additional copy number variations (CNVs)--missing or duplicated stretches of DNA--that occur in some patients with autism. These CNVs, say the researchers, are "high impact": although individually rare, each has a strong effect in raising an individual's risk for autism. "Many of these...

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...

2011-10-28 12:11:35

Parasite genomes speak of evolution by changes in gene, region and chromosome number, not by mutation in genes Two remarkable discoveries were today revealed by researchers into genome analysis of Leishmania parasites. These results uncovered a surprising level of variation at the genome structure level. First, they found that the DNA sequence of individual strains of each species populations is almost completely identical. It appears that only a small number of genes may cause...

2011-10-05 05:53:07

(Ivanhoe Newswire) — Autism is one of the most common genetic alterations, caused by a deletion of the 27-gene cluster on chromosome 16. By generating mouse models of autism, scientists at Cold Spring Harbor Laboratory (CSHL) provided the first evidence that inheriting fewer copies of these genes leads to features resembling those used to diagnose children with autism. "Children normally inherit one copy of a gene from each parent. We had the tools to see whether copy number changes...