http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. (HealthDay)—Functionally impaired variants in the COQ2 gene, which encodes the enzyme parahydroxybenzoate-polyprenyl transferase, have been identified in multiplex families with multiple-system atrophy and in patients with sporadic disease, according to a study published online June 12 in the New England Journal of Medicine. http://medicalxpress.com/news/2013-06-mutations-coq2-linked-multiple-system-atrophy.html Genetics Thu, 13 Jun 2013 15:20:01 EST news290354574 (Medical Xpress)—The St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project has identified mutations responsible for more than half of a subtype of childhood brain tumor that takes a high toll on patients. Researchers also found evidence the tumors are susceptible to drugs already in development. http://medicalxpress.com/news/2013-05-gene-sequencing-mutations-blame-majority.html Genetics Thu, 30 May 2013 06:37:07 EST news289114613 (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 Washington University Pediatric Cancer Genome Project has identified mutations responsible for more than half of a subtype of childhood brain tumor that takes a high toll on patients. Researchers also found evidence the tumors are susceptible to drugs already in development. http://medicalxpress.com/news/2013-04-genome-sequencing-mutations-blame-majority.html Genetics Sun, 14 Apr 2013 13:00:13 EST news285140598 The scientific benefits of whole genome sequencing at the Translational Genomics Research Institute (TGen) will be presented at the 14th International Myeloma Workshop, April 3-7 at the Kyoto International Conference Center. http://medicalxpress.com/news/2013-04-tgen-professor-discusses-benefits-genome.html Cancer Wed, 03 Apr 2013 09:51:25 EST news284201476 Using DNA tracking of an outbreak among cystic fibrosis patients at a treatment centre in the UK, the scientists identified frequent patient-to-patient transmission despite stringent infection control measures. http://medicalxpress.com/news/2013-03-genome-reveals-human-to-human-multidrug-resistant.html Diseases, Conditions, Syndromes Thu, 28 Mar 2013 18:30:01 EST news283707839 The first multi-gene DNA sequencing test that can help predict cancer patients' responses to treatment has been launched in the National Health Service (NHS), thanks to a partnership between scientists at the University of Oxford and Oxford University Hospitals NHS Trust. http://medicalxpress.com/news/2013-03-gene-sequencing-cancer-patients-nhs.html Cancer Mon, 25 Mar 2013 10:59:22 EST news283427954 Researchers have used whole genome sequencing to reveal if drug-resistant bacteria are transmitted from animals to humans in two disease outbreaks that occurred on different farms in Denmark. The results, which are published today in EMBO Molecular Medicine, confirm animal-to-human transmission of methicillin-resistant Staphylococcus aureus (MRSA), a disease-causing bacterium that carries the recently described mecC gene. The mecC gene is responsible for resistance to the penicillin-like antibiotic methicillin. http://medicalxpress.com/news/2013-03-sequencing-tracks-animal-to-human-transmission-bacterial.html Genetics Mon, 25 Mar 2013 10:20:26 EST news283425586 A new form of genetic testing of the bacteria that causes tuberculosis can provide better information on TB transmission and also trace TB outbreaks more accurately than the current standard test, according to a study from Germany published in this week's PLOS Medicine. http://medicalxpress.com/news/2013-02-genome-sequencing-tb-outbreaks-standard.html Diseases, Conditions, Syndromes Tue, 19 Feb 2013 17:10:08 EST news279910834 Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease. The latest example comes from the St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project, where scientists have developed an approach to mine the repetitive segments of DNA at the ends of chromosomes for insights into cancer. http://medicalxpress.com/news/2013-01-gene-sequencing-junk-clues-cancer.html Cancer Thu, 24 Jan 2013 13:41:21 EST news278257273 A fast growing, flesh-eating fungus killed 5 people following a massive tornado that devastated Joplin, Mo., according to two new studies based on genomic sequencing by the Translational Genomics Research Institute (TGen) and the U.S. Centers for Disease Control and Prevention (CDC). http://medicalxpress.com/news/2012-12-fungus-responsible-deaths-massive-tornado.html Diseases, Conditions, Syndromes Fri, 14 Dec 2012 18:31:55 EST news274732305 A University of Queensland researcher has been awarded an $85,000 grant to identify the genes that underlie rare paediatric brain disorders. http://medicalxpress.com/news/2012-11-genes-massimo-brain-disorder.html Genetics Fri, 23 Nov 2012 07:22:33 EST news272877722 (Medical Xpress)—The prevailing wisdom has been that every cell in the body contains identical DNA. However, a new study of stem cells derived from the skin has found that genetic variations are widespread in the body's tissues, a finding with profound implications for genetic screening, according to Yale School of Medicine researchers. http://medicalxpress.com/news/2012-11-skin-cells-reveal-dna-genetic.html Genetics Mon, 19 Nov 2012 09:15:14 EST news272538907 Researchers, led by the NIHR Oxford Biomedical Research Centre, the Health Protection Agency in Birmingham and the Wellcome Trust Sanger Institute in Cambridge, have pioneered the whole genome sequencing (WGS) method through a study of 254 TB cases in the Midlands. http://medicalxpress.com/news/2012-11-tuberculosis-genetic-family-tree-key.html Diseases, Conditions, Syndromes Wed, 14 Nov 2012 18:30:05 EST news272129666 Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco. http://medicalxpress.com/news/2012-11-genome-sequencing-de-novo-rearrangements.html Genetics Wed, 07 Nov 2012 13:30:01 EST news271508420 (Medical Xpress)—A new study out today reveals that the emergence and spread of a rapidly evolving invasive intestinal disease, that has a significant mortality rate (up to 45%) in infected people in sub-Saharan Africa, seems to have been potentiated by the HIV epidemic in Africa. http://medicalxpress.com/news/2012-09-invasive-non-typhoidal-salmonella-epidemic-sub-saharan.html Genetics Sun, 30 Sep 2012 13:00:05 EST news268208664 (HealthDay)—MYD88 L265P is a common, recurring mutation in patients with Waldenström's macroglobulinemia, according to a study published in the Aug. 30 issue of the New England Journal of Medicine. http://medicalxpress.com/news/2012-08-mutation-idd-waldenstrom-macroglobulinemia.html Cancer Thu, 30 Aug 2012 10:13:22 EST news265540374 Scientists have identified new genetic alterations underlying a high-risk subtype of the most common childhood cancer that could be effectively targeted with existing leukemia therapies. http://medicalxpress.com/news/2012-08-drugs-treatment-options-high-risk-childhood.html Cancer Mon, 13 Aug 2012 12:52:00 EST news264081090 With whole genome sequencing quickly becoming more affordable and accessible, we need to pay more attention to the massive amount of information it will deliver to parents – and the fact that we don't yet understand what most of it means, concludes an article in the Hastings Center Report. The authors are current or former scholars at the National Institutes of Health's Department of Bioethics. http://medicalxpress.com/news/2012-08-prenatal-genome-sequencing.html Genetics Fri, 10 Aug 2012 16:37:48 EST news263835431 An uncommon mutation of the BRAF gene in melanoma patients has been found to respond to MEK inhibitor drugs, providing a rationale for routine screening and therapy in melanoma patients who harbor the BRAF L597 mutation. http://medicalxpress.com/news/2012-07-uncommon-braf-mutation-melanoma-sensitive.html Cancer Mon, 16 Jul 2012 13:09:14 EST news261662921 Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother. http://medicalxpress.com/news/2012-07-method-enables-sequencing-fetal-genomes.html Genetics Wed, 04 Jul 2012 13:07:29 EST news260626027 In a new study released today in New England Journal of Medicine, researchers demonstrate that whole genome sequencing can provide clinically relevant data on bacterial transmission within a timescale that can influence infection control and patient management. http://medicalxpress.com/news/2012-06-tracking-mrsa-real-highlights-benefits.html Genetics Wed, 13 Jun 2012 17:00:01 EST news258811176 In two back-to-back reports published online on 17 May in Cell, researchers have sequenced the genomes of 21 breast cancers and analysed the mutations that emerged during the tumours' development. The individual results are described below. http://medicalxpress.com/news/2012-05-comprehensive-genome-evolution-breast-cancers.html Cancer Thu, 17 May 2012 12:00:12 EST news256474382 With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual's genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results. http://medicalxpress.com/news/2012-04-genome-sequencing.html Genetics Mon, 02 Apr 2012 12:37:12 EST news252589010 Because cases of Triple-Negative Breast Cancer (TNBC) are so genetically different, whole-genome sequencing is needed to detect the subtle molecular differences that might point to specific treatments for individual patients. http://medicalxpress.com/news/2012-04-preliminary-whole-genome-sequencing-triple-negative-breast.html Cancer Mon, 02 Apr 2012 04:58:09 EST news252561463 With whole-genome and whole-exome sequencing declining in price and improving in accuracy, these technologies are rapidly being integrated into clinical medicine. However, one of the most difficult obstacles to this integration is the uncertainty about searching for and reporting genetic results that are "incidental" or unrelated to the reasons the test was initially ordered. http://medicalxpress.com/news/2012-03-doctor-didnt-exploring-incidental-clinical.html Genetics Thu, 15 Mar 2012 11:49:27 EST news251030956 Initial results from an ongoing clinical trial, the first designed to examine the utility of whole-genome sequencing for triple negative breast cancer, were reported today during the CRTC-AACR San Antonio Breast Cancer Symposium. http://medicalxpress.com/news/2011-12-genome-sequencing-clinical-trial-triple.html Cancer Thu, 08 Dec 2011 12:13:57 EST news242568809 Scripps Health announced today it has launched an innovative clinical research study that is using whole genome sequencing to help determine the causes of idiopathic human diseases -- those serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments. http://medicalxpress.com/news/2011-10-scripps-genome-sequencing-root-idiopathic.html Genetics Tue, 18 Oct 2011 02:22:42 EST news238123346