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Latest Copy number variation Stories

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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...

2011-02-23 17:44:13

Newly identified gene mutation has potential for the development of more effective treatment of Schizophrenia In a major advance for schizophrenia research, an international team of scientists led by the University of California, San Diego School of Medicine and involving Trinity College Dublin researchers has identified a gene mutation strongly linked to schizophrenia that may be an important new target for the development of drug therapies. The findings are just published in the online...

2011-02-02 20:30:39

In a major advance for schizophrenia research, an international team of scientists, led by Jonathan Sebat, PhD, assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego School of Medicine, has identified a gene mutation strongly linked to the brain disorder "“ and a signaling pathway that may be treatable with existing compounds. The work poses significant and immediate implications for neurobiology and the treatment of...

2011-02-02 19:40:17

A study from the 1000 Genomes Project yields data for analyzing structural variants in DNA Advances in DNA sequencing technology have revolutionized biomedical research and taken us another step forward in personalized medicine. Now, scientists led by Brigham and Women's Hospital (BWH), Harvard Medical School (HMS), the Broad Institute, the Wellcome Trust Sanger Institute (WTSI), the University of Washington, and the European Molecular Biology Laboratory, have developed a new framework for...

2011-02-01 02:02:41

When the body can't distinguish its right side from its left during development, a child can develop a condition called heterotaxy in which the heart is severely malformed, leading to congenital heart disease. To improve survival in these children, researchers at Yale School of Medicine sought to identify the genes that cause heterotaxy. They have shown in a new study that patients with heterotaxy have considerably more copy number variations (CNVs) on their genomes than do control patients....

2011-01-06 16:46:57

A multinational team of researchers led by stem cell scientists at the University of California, San Diego School of Medicine and Scripps Research Institute has documented specific genetic abnormalities that occur in human embryonic (hESC) and induced pluripotent stem cell (iPSC) lines. Their study, "Dynamic changes in the copy number of pluripotency and cell proliferation genes in human ESCs and iPSCs during reprogramming and time in culture" will be published in the January 7 issue of the...

2010-12-02 15:37:35

Finding by CHOP researchers points to disruptions in brain signaling networks A large genetic study of people with major depression has found that a duplicated region of DNA on chromosome 5 predisposes people to the disorder. The gene involved plays an important role in the development of nerve cells, adding to evidence that disruptions in neurotransmission networks form a biological basis for depression. "The copy number variations we discovered were exclusive to people with depression, and...

2010-11-19 13:32:52

Largest genetic study of the eating disorder detects common and rare variants Scientists at The Children's Hospital of Philadelphia have identified both common and rare gene variants associated with the eating disorder anorexia nervosa. In the largest genetic study of this psychiatric disorder, the researchers found intriguing clues to genes they are subjecting to further investigation, including genes active in neuronal signaling and in shaping interconnections among brain cells. Anorexia...


Word of the Day
conjunto
  • A style of popular dance music originating along the border between Texas and Mexico, characterized by the use of accordion, drums, and 12-string bass guitar and traditionally based on polka, waltz, and bolero rhythms.
The word 'conjunto' comes through Spanish, from Latin coniūnctus, past participle of coniungere, to join together; see conjoin