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Latest Copy number variation Stories

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2010-11-04 12:45:00

Researchers have identified the deletion of a genomic region on chromosome 17 as a significant risk factor for autism spectrum disorders (ASD) and schizophrenia. A mutation of one of the genes in the deleted interval already is a known cause of renal cysts and diabetes syndrome (RCAD). The research, by an international collaboration of scientists led by Emory University, will be published in the American Journal of Human Genetics. Lead author of the study is Daniel Moreno-De-Luca, MD, MSc,...

2010-10-27 20:41:52

These techniques spot minute variations linked to evolution, diversity and brain development Scientists have invented methods to scout the human genome's repetitive landscapes, where DNA sequences are highly identical and heavily duplicated. These advances, as reported today in Science, can identify subtle but important differences among people in the number and content of repeated DNA segments. These copy number variations partly account for the normal diversity among people. Copy number...

2010-10-14 14:56:00

PHILADELPHIA, Oct. 14 /PRNewswire-USNewswire/ -- A new study by pediatric researchers has added to the evidence that genes have a strong influence on childhood obesity. The study team searched across the whole genomes of thousands of obese children for copy number variations (CNVs)--deletions or duplications of DNA sequences. Although the CNVs they found are rare within the population, their data suggest that those individuals harboring such variants are at a very high risk of becoming...

2010-10-14 14:54:58

A new study uncovers multiple genetic variations associated with common childhood obesity. The research, published by Cell Press on October 14th in the American Journal of Human Genetics, is likely to guide future studies aimed at characterizing the affected genes and unraveling the complex biology that underlies childhood obesity. Obesity, which has increased significantly in recent years in Western societies, is a major risk factor for type 2 diabetes and cardiovascular diseases. The...

2010-10-14 14:53:11

A new study by pediatric researchers has added to the evidence that genes have a strong influence on childhood obesity. The study team searched across the whole genomes of thousands of obese children for copy number variations (CNVs)--deletions or duplications of DNA sequences. Although the CNVs they found are rare within the population, their data suggest that those individuals harboring such variants are at a very high risk of becoming obese. "Our study is the first large-scale, unbiased...

2010-09-01 20:38:33

Both methods are helpful for investigating the genetic basis of cancer A cell devotes a significant amount of effort to maintaining the stability of its genome, preventing the sorts of chromosomal rearrangements characteristic of many cancers. Assays that measure the rate of gross chromosomal rearrangements (GCRs) are needed in order to understand the individual genes and the different pathways that suppress genomic instability. In the September issue of Cold Spring Harbor Protocols, Richard...

2010-06-11 01:25:24

Deciphering the functions of multiple rare genes may be at the core of understanding the genetic factors that cause autism spectrum disorders (ASDs), according to a new study published June 9 in the journal Nature by dozens of top autism researchers around the world, including Yale Child Study Center Director Fred R. Volkmar, M.D. ASDs are a group of conditions marked by impairments in social interaction and communication, and by the presence of restricted and repetitive behaviors....

2010-05-10 16:36:00

-- Study Finds Deletions and Repeats in DNA Sequences -- PHILADELPHIA, May 10 /PRNewswire-USNewswire/ -- By analyzing the genomes of patients with schizophrenia, genetics researchers have discovered numerous copy number variations -- deletions or duplications of DNA sequences -- that increase the risk of developing schizophrenia. Significantly, many of these variations occur in genes that affect signaling among brain cells. "When we compared the genomes of patients with schizophrenia to...

2010-05-10 15:42:03

Study finds deletions and repeats in DNA sequences By analyzing the genomes of patients with schizophrenia, genetics researchers have discovered numerous copy number variations"”deletions or duplications of DNA sequences"”that increase the risk of developing schizophrenia. Significantly, many of these variations occur in genes that affect signaling among brain cells. "When we compared the genomes of patients with schizophrenia to those of healthy subjects, we found variations in...

2009-12-06 13:39:05

Scientists in Cambridge have discovered that the loss of a key segment of DNA can lead to severe childhood obesity. This is the first study to show that this kind of genetic alteration can cause obesity. The results are published today in Nature. The study, led by Dr Sadaf Farooqi from the University of Cambridge and Dr Matt Hurles from the Wellcome Trust Sanger Institute, looked at 300 children with severe obesity. The team scanned each child's entire genome looking for types of mutation...


Word of the Day
bodacious
  • Remarkable; prodigious.
  • Audacious; gutsy.
  • Completely; extremely.
  • Audaciously; boldly.
  • Impressively great in size; enormous; extraordinary.
This word is probably from the dialectal 'boldacious,' a blend of 'bold' and 'audacious.'
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