Quantcast
Last updated on April 20, 2014 at 13:20 EDT

Latest Copy number variation Stories

2011-10-04 10:16:18

Chromosomal abnormalities linked to intellectual disability can be traced back to the father, particularly those who are older when the child is conceived, finds research published online in the Journal of Medical Genetics. Chromosomal abnormalities are caused by copy number variations, or CNVs. These are structural variations resulting in missing, repeated, inverted or misplaced DNA sequences in cells. They can be inherited or arise anew, and are a common cause of disease. However,...

2011-09-16 11:13:29

Using a diversity of DNA sequencing and human genome analytic techniques, researchers led by Baylor College of Medicine have identified some cases of developmental delay or cognitive disorders associated with a sudden chromosomal catastrophe that occurred early in development, perhaps during cell division when DNA is replicated. In a report in the journal Cell, Dr. Weimin Bi, assistant professor of molecular and human genetics, Dr. James R.Lupski, vice chair of molecular and human...

2011-09-15 13:05:47

Using a diversity of DNA sequencing and human genome analytic techniques, researchers led by Baylor College of Medicine have identified some cases of developmental delay or cognitive disorders associated with a sudden chromosomal catastrophe that occurred early in development, perhaps during cell division when DNA is replicated. In a report in the journal Cell, Dr. Weimin Bi, assistant professor of molecular and human genetics, Dr. James R.Lupski, vice chair of molecular and human...

2011-08-31 10:58:00

ALISO VIEJO, Calif., Aug. 31, 2011 /PRNewswire/ -- Ambry Genetics today introduces their new CancerArray(TM) product and services utilizing aCGH technology. The Ambry CancerArray(TM) is a high resolution exon-focused 180K array offering genome-wide probe coverage with higher probe density coverage in over 400 known cancer-associated genes. The array enhances the resolution in these functionally important cancer regions. (Logo: http://photos.prnewswire.com/prnh/20110307/LA59848LOGO)...

2011-08-11 12:13:30

New research led by The Hospital for Sick Children (SickKids) and the University of Toronto has identified more genes in attention deficit hyperactivity disorder (ADHD) and shows that there is an overlap between some of these genes and those found in other neuropsychiatric conditions such as autism spectrum disorder (ASD). The study is published in the August 10 advance online edition of Science Translational Medicine. The research team was led by Dr. Russell Schachar, Senior Scientist and...

2011-06-17 13:20:01

Results published today in PLoS Genetics Patients with thoracic aortic aneurysms that lead to acute aortic dissections are 12 times more likely to have duplications in the DNA in a region of chromosome 16 (16p13.1) than those without the disease, according to a study led by genetic researchers at The University of Texas Health Science Center at Houston (UTHealth). The results of the innovative study, which included researchers at Baylor College of Medicine, are published in the June 16 issue...

2011-06-17 13:09:38

People who have duplications in a region of chromosome 16 (16p13.1) that is present in approximately 1 in 1000 individuals have a 12-fold increased risk of thoracic aortic aneurysms leading to a tear in the aorta, or acute aortic dissections. An estimated 10000 people die annually from thoracic aortic aneurysms and dissections (TAAD) in the United States, where TAAD have ranked as high as the 15th leading cause of death. The study, led by genetic researchers at The University of Texas Health...

1aad8d2d05aaee06ea8ea25d5855009a
2011-06-09 05:00:00

Three papers being published on June 9 in the journal Neuron provide new insight into the diversity of genetic abnormalities that contribute to autism. Two separate research groups searched for "copy number variants" in genetic samples from over 1,000 autism spectrum disorder (ASD) families that were recruited as part of the Simons Simplex Collection project.  The researchers compared DNA from affected and unaffected siblings using distinct versions of a sensitive and powerful genetic...

2011-03-01 14:07:39

Children's Hospital of Philadelphia study shows extensive complexity of autism genetics New research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity. In the current study, researchers have implicated several new candidate genes and genomic variants as contributors to autism, and conclude that many more remain to be discovered. While the gene alterations are individually very rare, they...

2011-02-24 20:46:36

A North Star amid 'a constellation of multiple rare diseases' Scientists are eyeing a rare genetic glitch for clues to improved treatments for some people with schizophrenia "“ even though they found the mutation in only one third of 1 percent of patients. In the study, funded in part by the National Institutes of Health, schizophrenia patients were 14 times more likely than controls to harbor multiple copies of a gene on Chromosome 7. The mutations were in the gene for VIPR2, the...