Quantcast
Last updated on April 17, 2014 at 17:30 EDT

Latest Copy number variation Stories

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...

2010-11-18 16:42:17

TAAD causes thousands of deaths in the United States each year. Although timely surgical repair of aneurysms can prevent death, thoracic aneurysms are often asymptomatic until dissection (tearing of the vessel wall), and there are few recognized risk factors that can be used for screening. "Prospective identification of patients at risk for TAAD using a genetic strategy will be critical to prevent sudden deaths from this treatable disease," explains senior study author Dr. John W. Belmont...

46f763e4606e2f6e48568a8d31214bdb1
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...