Genetics
Complex diseases traced to gene copy numbers
Duke researchers have connected very rare and precise duplications and deletions in the human genome to their complex disease consequences by duplicating them in zebrafish.
Oct 17, 2013
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News tagged with cnvs
Alzheimer's disease & dementia
Rare genomic mutations found in 10 families with early-onset, familial Alzheimer's disease
Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes – the amyloid precursor protein and presenilins 1 and 2 – have been established ...
Jun 17, 2013
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Genetics
Gene variants found to affect human lifespan
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.
Feb 4, 2013
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Genetics
Novel gene-searching software improves accuracy in disease studies
A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations ...
Jan 22, 2013
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Genetics
25 new autism-related gene variants discovered
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 ...
Jan 14, 2013
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Genetics
Study explains functional links between autism and genes
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 ...
Jun 21, 2012
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Addiction
Researchers find a strong association between alcohol dependence and chromosome 5q13.2
Excessive drinking is not only the third leading cause of preventable death in the United States, there is also a very strong genetic influence on the risk of developing alcohol dependence (AD). Given its serious public-health ...
Jun 15, 2012
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Oncology & Cancer
Two genetic deletions in human genome linked to aggressive prostate cancer development
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 ...
Apr 9, 2012
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Genetics
Rare genetic mutations linked to bipolar disorder
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 ...
Dec 21, 2011
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Genetics
Is short stature associated with a 'shortage' of genes?
New research sifts through the entire genome of thousands of human subjects to look for genetic variation associated with height. The results of the study, published by Cell Press in the December issue of the American Journal ...
Nov 23, 2011
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