http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Some diseases are caused by single gene mutations. Current techniques for identifying the disease-causing gene in a patient produce hundreds of potential gene candidates, making it difficult for scientists to pinpoint the single causative gene. Now, a team of researchers led by Rockefeller University scientists have created a map of gene "shortcuts" to simplify the hunt for disease-causing genes. http://medicalxpress.com/news/2013-03-shortcuts-human-genes.html Genetics Mon, 18 Mar 2013 17:10:47 EST news282845412 Severe chronic pain associated with conditions such as bladder pain syndrome/interstitial cystitis often require the use of opioid medication, with the risk of dependency and serious adverse reactions. An alternative treatment strategy increases the levels of a naturally occurring painkiller in and around the nerves that deliver pain signals to the bladder. This new therapeutic approach is described in an article in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. http://medicalxpress.com/news/2013-03-treatment-approach-bladder-pain-herpes.html Genetics Thu, 14 Mar 2013 13:03:51 EST news282485022 Researchers from Basque Public University are using nanotechnology to develop new formulations that can be applied to drugs and gene therapy. Specifically, they are using nanoparticles to design systems for delivering genes and drugs; this helps to get the genes and drugs to the point of action so that they can produce the desired effect. http://medicalxpress.com/news/2013-02-lipid-nanoparticles-ideal-genes-drugs.html Genetics Thu, 28 Feb 2013 10:53:45 EST news281271176 Deleting or reducing expression of a gene that carries the code for tau, a protein associated with Alzheimer's disease, can prevent seizures in a severe type of epilepsy linked to sudden death, said researchers at Baylor College of Medicine and the Mayo Clinic in Jacksonville, Fla., in a report in the current issue of the Journal of Neuroscience. http://medicalxpress.com/news/2013-01-tau-seizures-sudden-death-severe.html Neuroscience Tue, 22 Jan 2013 17:00:01 EST news278090923 Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos. http://medicalxpress.com/news/2013-01-lack-key-enzyme-metabolism-folic.html Medical research Thu, 17 Jan 2013 13:23:45 EST news277651417 An Australian scientist said Wednesday he had discovered a way to turn the HIV virus against itself in human cells in the laboratory, in an important advance in the quest for an AIDS cure. http://medicalxpress.com/news/2013-01-australian-potential-aids.html HIV & AIDS Wed, 16 Jan 2013 05:36:02 EST news277536956 New research led by the Karolinska Institutet, Sweden and the University of Glasgow, Scotland, has identified a link between a human gene and the composition of human gastrointestinal bacteria. In a study published as a letter to the journal Gut, the team outline new evidence suggesting that the human genome may play a role in determining the makeup of the billions of microbes in the human gastrointestinal tract collectively known as the gut microbiota. http://medicalxpress.com/news/2013-01-human-genes-gut-microbial-composition.html Medical research Mon, 07 Jan 2013 04:40:38 EST news276756030 (Medical Xpress)—Diagnosed with severe coronary artery disease, a group of patients too ill for or not responding to other treatment options decided to take part in a clinical trial testing angiogenic gene therapy to help rebuild their damaged blood vessels. More than 10 years later, in a follow-up review of these patients, doctors at Baylor College of Medicine, Weill Cornell Medical College (where the clinical trial and review took place) and Stony Brook University Medical Center report the outcomes are promising and open the door for larger trials to begin. http://medicalxpress.com/news/2012-12-rebuilding-blood-vessels-gene-therapy.html Cardiology Fri, 21 Dec 2012 08:16:46 EST news275300096 Researchers at Cambridge and Cardiff have found that, on average, a normal healthy person carries approximately 400 potentially damaging DNA variants and two variants known to be associated directly with disease traits. They showed that one in ten people studied is expected to develop a genetic disease as a consequence of carrying these variants. http://medicalxpress.com/news/2012-12-deleterious-disease-causing-genetic-variants-healthy.html Genetics Thu, 06 Dec 2012 12:00:42 EST news274004951 Dutch biotech company uniQure said Monday it would start selling the first human gene therapy to be approved in the West by mid-2013 and predicted an explosion of similar therapies to come. http://medicalxpress.com/news/2012-11-gene-therapy-sale-europe.html Genetics Mon, 05 Nov 2012 13:40:01 EST news271343570 Targeted T-cells can seek out and destroy tumor cells that carry specific antigen markers. Two novel anti-tumor therapies that take advantage of this T-cell response are described in articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website. http://medicalxpress.com/news/2012-10-anti-tumor-cell-therapy-strategies-effective.html Cancer Thu, 25 Oct 2012 13:04:18 EST news270388959 (Medical Xpress)—In the early stages of that vast undertaking known as the Human Genome Project, enthusiasm ran high. The enterprise would be costly and laborious but the clinical rewards, unprecedented. Once the complete blueprint of life was unlocked, the genetic underpinnings for a broad range of human maladies would be laid bare, allowing custom-tailored diagnosis and treatment and revolutionizing the field of medicine. http://medicalxpress.com/news/2012-09-genomic-thicket-disease-variants.html Genetics Tue, 25 Sep 2012 09:34:32 EST news267784453 A team of neuroscientists and chemists from the U.S. and China today publish research suggesting that a class of currently used anti-cancer drugs as well as several previously untested synthetic compounds show effectiveness in reversing memory loss in two animal models of Alzheimer's' disease. http://medicalxpress.com/news/2012-09-scientists-reverse-alzheimer-like-memory-loss.html Alzheimer's disease & dementia Mon, 24 Sep 2012 16:35:33 EST news267721729 (Medical Xpress)—Biologists at UC San Diego have unraveled the anti-viral mechanism of a human gene that may explain why some people infected with HIV have much higher amounts of virus in their bloodstreams than others. http://medicalxpress.com/news/2012-09-discovery-hiv-positive-patients-virus.html HIV & AIDS Mon, 24 Sep 2012 07:10:48 EST news267689428 (Medical Xpress)—Can HIV be transformed into a biotechnological tool for improving human health? According to a CNRS team at the Architecture et Réactivité de l'ARN (RNA Architecture and Reactivity) laboratory, the answer is yes. Taking advantage of the HIV replication machinery, the researchers have been able to select a specific mutant protein. Added to a culture of tumor cells in combination with an anticancer drug, this protein improves the effectiveness of the treatment at 1/300 the normal dosage levels. Published in PLoS Genetics on 23 August 2012, these findings could lead to long-term therapeutic applications in the treatment of cancer and other pathologies. http://medicalxpress.com/news/2012-08-aids-virus-cancer.html Genetics Wed, 29 Aug 2012 07:55:40 EST news265445555 (Medical Xpress) -- Marin County, California has one of the highest rates of breast cancer in the world, a fact that scientists know has nothing to do with the land itself but with some other, unknown factor. http://medicalxpress.com/news/2012-08-marin-county-high-breast-cancer.html Genetics Wed, 08 Aug 2012 09:39:34 EST news263637565 The body's natural reaction to reject replacement proteins represents a major obstacle to the successful use of gene therapy to cure a range of life-threatening diseases. A novel method that uses the body's own immune cells to induce tolerance to a specific protein was shown to suppress the rejection response, as described in an article in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc. http://medicalxpress.com/news/2012-08-method-disease-fighting-proteins.html Genetics Tue, 07 Aug 2012 13:16:37 EST news263564190 Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy. http://medicalxpress.com/news/2012-07-elusive-gene-leber-congenital-amaurosis.html Genetics Sun, 29 Jul 2012 13:00:11 EST news262780124 High levels of low-density lipoprotein (LDL) cholesterol increases the risk for coronary heart disease. http://medicalxpress.com/news/2012-07-gene-variant-cholesterol-mechanisms.html Medical research Mon, 02 Jul 2012 12:00:11 EST news260448918 Gene therapy to replace the protein missing in Pompe disease can be effective if the patient's immune system does not react against the therapy. Targeted delivery of the gene to the liver, instead of throughout the body,suppresses the immune response, improving the therapeutic effect, according to an article published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc. The article is available free online at the Human Gene Therapy website. http://medicalxpress.com/news/2012-06-gene-therapy-treatment-pompe-disease.html Diseases, Conditions, Syndromes Mon, 25 Jun 2012 14:00:01 EST news259848728 Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website at http://www.liebertpub.com/hum. http://medicalxpress.com/news/2012-05-advances-inherited-retinal-diseases-highlighted.html Genetics Tue, 08 May 2012 12:51:42 EST news255700295 A partial, duplicate copy of a gene appears to be responsible for the critical features of the human brain that distinguish us from our closest primate kin. The momentous gene duplication event occurred about two or three million years ago, at a critical transition in the evolution of the human lineage, according to a pair of studies published early online in the journal Cell, a Cell Press publication, on May 3rd. http://medicalxpress.com/news/2012-05-extra-gene-drove-instant-human.html Genetics Thu, 03 May 2012 14:10:02 EST news255270918 A team of scientists from the University of Missouri created a genetically modified mouse that mimics key features of Charcot-Marie-Tooth disease, an inherited neuromuscular disease affecting approximately 150,000 people in the United States. http://medicalxpress.com/news/2012-04-genetically-mice-aid-incurable-neuromuscular.html Medical research Tue, 17 Apr 2012 13:08:20 EST news253886739 An international team of researchers led by Georgia State University scientists have found a key component in the pathological process of pulmonary fibrosis, a fatal disease for which there is currently no cure. http://medicalxpress.com/news/2012-04-critical-tightly-deadly-pulmonary-fibrosis.html Immunology Tue, 10 Apr 2012 11:20:28 EST news253275595 Asthma is a chronic inflammatory and respiratory disease caused by an abnormal reactivity to allergens in the environment. Of the several avenues of exploration that are currently being developed, vaccination appears to be the most promising approach. In a publication soon to appear in the review Human Gene Therapy, the research scientists at Inserm and CNRS ( Institut du thorax, CNRS, France) reveal an innovatory vaccine against one of the allergens most frequently encountered in asthma patients. After vaccine was directly injected into the muscle of an asthmatic mouse, a nanovector significantly reduced both the hypersensitivity to the allergen and the associated inflammatory response. http://medicalxpress.com/news/2012-04-asthma-vaccination-intramuscular.html Inflammatory disorders Wed, 04 Apr 2012 10:22:50 EST news252753756 A genetic finding could help explain why influenza becomes a life-threating disease to some people while it has only mild effects in others. New research led by the Wellcome Trust Sanger Institute has identified for the first time a human gene that influences how we respond to influenza infection. http://medicalxpress.com/news/2012-03-genetics-flu-susceptibility-gene-mild.html Genetics Sun, 25 Mar 2012 13:57:05 EST news251902604 The time for commercial development of gene therapy has come. Patients with diseases treatable and curable with gene therapy deserve access to the technology, which has demonstrated both its effectiveness and feasibility, says James Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy in a provocative commentary and accompanying videocast. Human Gene Therapy and Human Gene Therapy (HGT) Methods are peer-reviewed journals published by Mary Ann Liebert, Inc.. http://medicalxpress.com/news/2012-01-gene-therapy-disruptive-science-ready.html Genetics Tue, 24 Jan 2012 12:55:55 EST news246632138 For the first time, scientists have cleanly corrected a human gene mutation in a patient's stem cells. The result, reported in Nature on Wednesday 12 October, brings the possibility of patient-specific therapies closer to becoming a reality. http://medicalxpress.com/news/2011-10-gene-therapy-methods-accurately-mutation.html Genetics Wed, 12 Oct 2011 13:00:20 EST news237637269 Mitochondrial depletion syndrome accounts for about 11 percent of the cases of children born with common myopathies and a more mild form of the syndrome affecting adults. A new finding by Cornell researchers may lead to a nutrition-based treatment with B vitamins. http://medicalxpress.com/news/2011-09-discovery-mitochndria-syndrome-treatment.html Medical research Thu, 22 Sep 2011 06:12:52 EST news235890724 In humans, inherited mutations in a gene called HPRT1 lead to very specific self-destructive behavior. Boys with Lesch-Nyhan disease experience uncontrollable urges to bite their fingers, slam their arms into doorways and otherwise harm themselves. http://medicalxpress.com/news/2011-07-gene-clues-self-injurious-behavior-rare.html Medical research Wed, 27 Jul 2011 17:00:04 EST news231001165