http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. 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. http://medicalxpress.com/news/2013-02-gene-variants-affect-human-lifespan.html Genetics Mon, 04 Feb 2013 16:15:12 EST news279216902 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 that reduce the accuracy of results in conventional software. The software, called ParseCNV, is freely available to the scientific-academic community, and significantly advances the identification of gene variants associated with genetic diseases. http://medicalxpress.com/news/2013-01-gene-searching-software-accuracy-disease.html Genetics Tue, 22 Jan 2013 15:46:41 EST news278091995 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 individually rare, each has a strong effect in raising an individual's risk for autism. http://medicalxpress.com/news/2013-01-autism-related-gene-variants.html Genetics Mon, 14 Jan 2013 17:00:05 EST news277381059 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 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any disease with a genetic component. http://medicalxpress.com/news/2012-06-functional-links-autism-genes.html Genetics Thu, 21 Jun 2012 13:20:04 EST news259497632 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 impact, as well as strong evidence for genetic influence, a new study has examined links between AD and genetic variations called common copy number variations (CNVs), finding a significant association between AD and CNVs on chromosome 5q13.2. http://medicalxpress.com/news/2012-06-strong-association-alcohol-chromosome-5q132.html Addiction Fri, 15 Jun 2012 18:40:03 EST news259004368 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 online today in the Proceedings of the National Academy of Sciences (PNAS), indicate a man's risk of developing prostate cancer either triples or quadruples, depending on the genetic variant they inherit. http://medicalxpress.com/news/2012-04-genetic-deletions-human-genome-linked.html Cancer Mon, 09 Apr 2012 15:01:08 EST news253186976 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 role in the risk for early onset bipolar disorder. http://medicalxpress.com/news/2011-12-rare-genetic-mutations-linked-bipolar.html Genetics Wed, 21 Dec 2011 12:37:06 EST news243693389 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 of Human Genetics, suggest that uncommon genetic deletions are associated with short stature. http://medicalxpress.com/news/2011-11-short-stature-shortage-genes.html Genetics Wed, 23 Nov 2011 12:35:58 EST news241274101 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. http://medicalxpress.com/news/2011-10-faulty-intellectual-disability-genes-linked.html Genetics Mon, 03 Oct 2011 19:10:48 EST news236887839