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. Can human genes be patented? That was the question posed by Alan J. Snyder, vice president and associate provost for research and graduate studies at Lehigh, and Lee Kaplan, scientific director of cellular and molecular genetics at Health Network Laboratories, at a panel discussion on campus this spring. http://medicalxpress.com/news/2013-05-patenting-human-genome.html Genetics Fri, 24 May 2013 07:37:46 EST news288599855 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 In a paper published in Science Express, a group of experts led by bioethicists in the Center for Medical Ethics and Health Policy at Baylor College of Medicine provide a framework for the new American College of Medical Genetics and Genomics (ACMG) recommendations on reporting incidental findings in clinical exome and genome sequencing. http://medicalxpress.com/news/2013-05-ethicists-framework-incidental-gene-sequencing.html Genetics Thu, 16 May 2013 14:00:01 EST news287931187 The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. However, it can also pose major ethical problems if used incorrectly, say new recommendations from the European Society of Human Genetics (ESHG) published on line today (16 May 2013) in the European Journal of Human Genetics. http://medicalxpress.com/news/2013-05-experts-urge-caution-genetic-sequencing.html Genetics Thu, 16 May 2013 10:32:46 EST news287919140 DNA databases might help identify victims of crime and human trafficking, but how do we safeguard the personal privacy of innocent victims and family members? A new report online May 15 in the Cell Press journal Trends in Genetics identifies a number of key challenges to consider as experts develop such programs. http://medicalxpress.com/news/2013-05-dna-human-rights-safeguarding-privacy.html Genetics Wed, 15 May 2013 12:00:06 EST news287825972 Cancer research has taken a huge leap forward with scientists now able to identify more than 80 genetic markers found to increase the risk of breast, ovarian and prostate cancer. The COGS international research initiative is believed to be the largest of its kind. http://medicalxpress.com/news/2013-05-massive-cancers-markers.html Genetics Wed, 15 May 2013 09:50:02 EST news287827652 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 Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding opens new avenues for research into a diagnosis and treatment for these until now incurable diseases. http://medicalxpress.com/news/2013-05-gene-responsible-spectrum-disorders-affecting.html Genetics Thu, 09 May 2013 12:00:13 EST news287306300 Doctors should not have the right or responsibility to force-feed their patients with genomic information about their future health risks, according to bioethicists writing on May 9 in Trends in Biotechnology, a Cell Press publication. They write in response to controversial recommendations from the American College of Medical Genetics and Genomics (ACMG) on the reporting of incidental findings in clinical genome sequencing. http://medicalxpress.com/news/2013-05-patients-genomic-health.html Genetics Thu, 09 May 2013 12:00:01 EST news287307382 Predicting outcomes for cancer patients based on tumor-immune system interactions is an emerging clinical approach, and new research from Wake Forest Baptist Medical Center is advancing the field when it comes to the most deadly types of breast cancer. http://medicalxpress.com/news/2013-05-immune-surveillance-war-cancer.html Genetics Thu, 09 May 2013 10:53:22 EST news287315589 (HealthDay)—Mutations in a gene involved in bone development appear to cause certain severe forms of bone loss, a finding that could lead to new therapies for the common bone-thinning disorder osteoporosis, researchers report. http://medicalxpress.com/news/2013-05-gene-discoveries-brittle-bone-disease.html Genetics Wed, 08 May 2013 19:40:01 EST news287256313 In new findings published on May 8, 2013 in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause – a genetic mutation that occurs before birth – of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States. http://medicalxpress.com/news/2013-05-discovery-gene-mutation-sturge-weber-syndrome.html Genetics Wed, 08 May 2013 17:00:08 EST news287248735 Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – a lack of muscle coordination – and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families. http://medicalxpress.com/news/2013-05-team-genes-combine-rare-syndrome.html Genetics Wed, 08 May 2013 17:00:03 EST news287249161 (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 (HealthDay)—A genetic variant associated with weight loss after Roux-en-Y gastric bypass (RYGB) surgery has been identified, according to a study published in the May 2 issue of the American Journal of Human Genetics. http://medicalxpress.com/news/2013-05-genetic-variant-weight-loss-post-rygb.html Genetics Tue, 07 May 2013 13:00:01 EST news287149050 (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 (HealthDay)—Particular gene variants of follicle stimulating hormone (FSH) and its receptor are associated with significantly reduced fertility in men, according to a study presented at the annual European Congress of Endocrinology, held from April 27 to May 1 in Copenhagen. http://medicalxpress.com/news/2013-05-ece-gene-variants-linked-male.html Genetics Fri, 03 May 2013 14:20:01 EST news286807676