http://medicalxpress.com/genetics-news/ en-us Medical Xpress provides the latest news on genetics, genetic science, genetic research, genetic engineering, genetic studies and genes. Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases. http://medicalxpress.com/news/2013-05-largest-genetic-sequencing-human-disease.html Genetics Wed, 22 May 2013 13:00:08 EST news288446235 University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral nerve sheath tumors (MPNST) that allow them to discover new genes and gene pathways driving this type of cancer. http://medicalxpress.com/news/2013-05-malignant-peripheral-nerve-sheath-tumors.html Genetics Mon, 20 May 2013 17:41:35 EST news288290452 Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock. http://medicalxpress.com/news/2013-05-circadian-clock-component.html Genetics Thu, 16 May 2013 14:58:48 EST news287935099 Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients' rights will continue in an era of medical genomics. http://medicalxpress.com/news/2013-05-genetic-incidental-patient-consent-violates.html Genetics Thu, 16 May 2013 14:00:02 EST news287930948 When cells suffer too much DNA damage, they are usually forced to undergo programmed cell death, or apoptosis. However, cancer cells often ignore these signals, flourishing even after chemotherapy drugs have ravaged their DNA. http://medicalxpress.com/news/2013-05-ids-key-protein-cell-death.html Genetics Tue, 14 May 2013 06:27:15 EST news287731615 A new study looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today. The findings from this first-of-its-kind meta-analysis were reported online May 12 in Nature Genetics by researchers at the Perelman School of Medicine at the University of Pennsylvania. http://medicalxpress.com/news/2013-05-genetic-factors-testicular-cancer.html Genetics Sun, 12 May 2013 13:00:24 EST news287575870 Researchers from the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (also called AIS) across Asian and Caucasian populations. The gene is involved in the growth and development of the spine during childhood. http://medicalxpress.com/news/2013-05-gene-adolescent-idiopathic-scoliosis.html Genetics Sun, 12 May 2013 13:00:01 EST news287576143 Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that's mutated can be a huge relief for parents—they better understand what they're dealing with and doctors can sometimes use that information to develop a therapeutic approach. Whole-exome sequencing, an abbreviated form of whole-genome sequencing, is increasingly used as a diagnostic for CDG. http://medicalxpress.com/news/2013-05-cautionary-tale-genome-sequencing-diagnostics-rare.html Genetics Fri, 10 May 2013 05:49:36 EST news287383768 Researchers at Georgetown University Medical Center have used tiny doses of a leukemia drug to halt accumulation of toxic proteins linked to Parkinson's disease in the brains of mice. This finding provides the basis to plan a clinical trial in humans to study the effects. http://medicalxpress.com/news/2013-05-cancer-drug-build-up-toxic-brain.html Genetics Fri, 10 May 2013 00:10:02 EST news287338927 A large, multi-institutional research team involved in the NIH Epigenome Roadmap Project has published a sweeping analysis in the current issue of the journal Cell of how genes are turned on and off to direct early human development. Led by Bing Ren of the Ludwig Institute for Cancer Research, Joseph Ecker of The Salk Institute for Biological Studies and James Thomson of the Morgridge Institute for Research, the scientists also describe novel genetic phenomena likely to play a pivotal role not only in the genesis of the embryo, but that of cancer as well. Their publicly available data, the result of more than four years of experimentation and analysis, will contribute significantly to virtually every subfield of the biomedical sciences. http://medicalxpress.com/news/2013-05-embryonic-epigenome.html Genetics Thu, 09 May 2013 16:18:29 EST news287335096 (Medical Xpress)—A gene associated with both protection against bacterial infection and excessive blood clotting could offer new insights into treatment strategies for deep-vein thrombosis—the formation of a harmful clot in a deep vein. The gene produces an enzyme that, if inhibited via a specific drug therapy, could offer hope to patients prone to deep-vein clots, such as those that sometimes form in the legs during lengthy airplane flights or during recuperation after major surgery. The research, which was led by Yanming Wang, a Penn State University associate professor of biochemistry and molecular biology, and Denisa Wagner, senior author with decades of research on thrombosis at the Boston Children's Hospital and the Harvard University Medical School, will be published in in the Online Early Edition of the journal Proceedings of the National Academy of Sciences during the week ending 10 May 2013. http://medicalxpress.com/news/2013-05-gene-clues-treatments-blood-clotting.html Genetics Wed, 08 May 2013 08:50:02 EST news287220776 A new genetic test to gauge the aggressiveness of prostate cancer may help tens of thousands of men each year decide whether they need to treat their cancer right away or can safely monitor it. http://medicalxpress.com/news/2013-05-gene-prostate-cancer-treatment.html Genetics Wed, 08 May 2013 04:44:19 EST news287207046 (Medical Xpress)—Malaria is responsible for about 700,000 deaths annually in sub-Saharan Africa alone, and a team of Texas A&M University researchers is doing their best to help stem this perpetual tide of human suffering. http://medicalxpress.com/news/2013-05-published-malaria-mosquito-woes.html Genetics Tue, 07 May 2013 07:27:00 EST news287130411 (Medical Xpress)—UCLA life scientists have identified a gene previously implicated in Parkinson's disease that can delay the onset of aging and extend the healthy life span of fruit flies. The research, they say, could have important implications for aging and disease in humans. http://medicalxpress.com/news/2013-05-boosting-cellular-garbage-disposal-aging.html Genetics Mon, 06 May 2013 15:00:27 EST news287057425 (Medical Xpress)—Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes the muscles of the upper body to waste away. It is unusual in that symptoms do not usually appear until sufferers are in their teens or early 20s, although similar disorders begin to affect victims in early childhood. Moreover, while about one percent of people carry the mutations that cause FSHD, only 1 in 20,000 actually develop the disease. In a study published in Nature Structural & Molecular Biology, Woodring Wright of the University of Texas Southwestern Medical Center in Dallas and his team report that telomere shortening, which is associated with age, causes increased expression of the gene associated with FSHD. This could explain why the disease has such a late onset and why so many people with the associated mutations never develop it. http://medicalxpress.com/news/2013-05-telomere-shortening-affects-muscular-dystrophy.html Genetics Mon, 06 May 2013 12:50:01 EST news287062232 A new study led by researchers from Harvard School of Public Health (HSPH) and the Wellcome Trust Sanger Institute in the UK has, for the first time, used genome sequencing technology to track the changes in a bacterial population following the introduction of a vaccine. The study follows how the population of pneumococcal bacteria changed following the introduction of the 'Prevnar' conjugate polysaccharide vaccine, which substantially reduced rates of pneumococcal disease across the U.S. The work demonstrates that the technology could be used in the future to monitor the effectiveness of vaccination or antibiotic use against different species of bacterial pathogens, and for characterizing new and emerging threats. http://medicalxpress.com/news/2013-05-genome-sequencing-unprecedented-insight-pneumococcal.html Genetics Sun, 05 May 2013 13:00:23 EST news286954094 Researchers at the Stanford University School of Medicine have identified a group of proteins that are mutated in about one-fifth of all human cancers. The finding suggests that the proteins, which are members of a protein complex that affects how DNA is packaged in cells, work to suppress the development of tumors in many types of tissues. http://medicalxpress.com/news/2013-05-protein-complex-role-cancer.html Genetics Sun, 05 May 2013 13:00:16 EST news286955460 (Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other children with genetic diseases. http://medicalxpress.com/news/2013-05-mystery-disease-gene-experts.html Genetics Fri, 03 May 2013 07:58:29 EST news286786628 New research out of the Lillehei Heart Institute at the University of Minnesota shows that by turning on just a single gene, Mesp1, different cell types including the heart, blood and muscle can be created from stem cells. http://medicalxpress.com/news/2013-05-gene-thought-heart-tissues-blood.html Genetics Thu, 02 May 2013 17:11:14 EST news286733466 People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine are closer to clearing this up. http://medicalxpress.com/news/2013-05-gene-mutations-nearsightedness.html Genetics Thu, 02 May 2013 12:00:13 EST news286710630 Massachusetts General Hospital (MGH) researchers have identified a gene variant that helps predict how much weight an individual will lose after gastric bypass surgery, a finding with the potential both to guide treatment planning and to facilitate the development of new therapeutic approaches to treating obesity and related conditions like diabetes. The report receiving advance online publication in The American Journal of Human Genetics is the first to identify genetic predictors of weight loss after bariatric surgery. http://medicalxpress.com/news/2013-05-gene-variant-weight-loss-gastric.html Genetics Thu, 02 May 2013 12:00:02 EST news286710668 (Medical Xpress)—A major international study involving a Simon Fraser University scientist has found that sequence differences in a gene crucial to the maintenance of our chromosomes' integrity predispose us to certain cancers. http://medicalxpress.com/news/2013-05-genetic-clues-breast-ovarian-cancer.html Genetics Wed, 01 May 2013 16:22:24 EST news286644123 A research team led by a Howard Hughes Medical Institute investigator at the University of California, San Francisco has identified a genetic mutation that is strongly associated with a typical form of migraine. http://medicalxpress.com/news/2013-05-genetic-mutation-linked-typical-migraine.html Genetics Wed, 01 May 2013 14:00:01 EST news286625251 A type of low-grade but sometimes lethal brain tumor in children has been found in many cases to contain an unusual mutation that may help to classify, diagnose and guide the treatment of the tumors, report scientists at Dana-Farber Cancer Institute. http://medicalxpress.com/news/2013-04-scientists-mutation-pediatric-brain-tumors.html Genetics Tue, 30 Apr 2013 17:28:13 EST news286561685 Gene analysis of malaria parasites has pinpointed western Cambodia as the hotspot of strains that are dangerously resistant to artesiminin, the frontline drug against the disease, scientists said on Sunday. http://medicalxpress.com/news/2013-04-gene-clues-cambodia-resistant-malaria.html Genetics Sun, 28 Apr 2013 14:02:47 EST news286376557 As scientists probe and parse the genetic bases of what makes a human a human (or one human different from another), and vigorously push for greater use of whole genome sequencing, they find themselves increasingly threatened by the unthinkable: Too much data to make full sense of. http://medicalxpress.com/news/2013-04-methods-scientists-genome-wide-association.html Genetics Fri, 26 Apr 2013 09:06:17 EST news286185970 For the first time, scientists show that a leading cause of liver transplant, primary sclerosing cholangitis (PSC), is a distinct disease from inflammatory bowel disease, opening up new avenues for specific PSC treatments. http://medicalxpress.com/news/2013-04-large-scale-genetic-relationship-primary-sclerosing.html Genetics Sun, 21 Apr 2013 13:00:17 EST news285763950 (Medical Xpress)—In 1999, researchers at the University of Pennsylvania injected 19 people with a virus carrying a gene designed to correct a rare metabolic disease. Early results appeared promising: Among the first 17 adult subjects, the worst symptom was a fever, an expected response to the modified virus that carried the therapeutic gene. http://medicalxpress.com/news/2013-04-gene-therapy-renaissance-experimental-technique.html Genetics Fri, 19 Apr 2013 08:20:01 EST news285576916 Researchers have designed a method that can universally test for evolutionary adaption, or positive (Darwinian) selection, in any chosen set of genes, using re-sequencing data such as that generated by the 1000 Genomes Project. The method identifies gene sets that show evidence for positive selection in comparison with matched controls, and thus highlights genes for further functional studies. http://medicalxpress.com/news/2013-04-evolving-genes.html Genetics Thu, 18 Apr 2013 12:20:01 EST news285506387 (Medical Xpress)—Cracking the DNA code for a complex region of the human genome has helped 14 North American scientists, including five at Simon Fraser University, chart new territory in immunity research. http://medicalxpress.com/news/2013-04-scientists-ethnicity-linked-antibodies.html Genetics Wed, 17 Apr 2013 17:12:18 EST news285437521