http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Research funded by children's charity Action Medical Research has uncovered new gene variants in startle disease, a rare condition in newborn babies. Understanding the genetic causes should lead to new genetic tests and is vital to ensure that babies get the correct treatment. http://medicalxpress.com/news/2013-05-startle-disease-key-gene-variants.html Genetics Thu, 30 May 2013 08:59:59 EST news289123191 Researchers at the Stanford University School of Medicine have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS. Also known as Lou Gehrig's disease, the progressive, fatal condition, in which the motor neurons that control movement and breathing gradually cease to function, has no cure. http://medicalxpress.com/news/2013-05-genetic-sporadic-lou-gehrig-disease.html Neuroscience Sun, 26 May 2013 13:00:01 EST news288783471 Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of "bad" cholesterol. This discovery could lead to the development of new drugs to reduce the risk of heart disease. http://medicalxpress.com/news/2013-05-genes-indentified-bad-cholesterol.html Medical research Wed, 15 May 2013 13:50:01 EST news287843705 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 A paper published this month in the prestigious medical journal The Lancet Neurology suggests that a broad spectrum of developmental and psychiatric disorders, ranging from autism and intellectual disability to schizophrenia, should be conceptualized as different manifestations of a common underlying denominator, 'developmental brain dysfunction,' rather than completely independent conditions with distinct causes. http://medicalxpress.com/news/2013-04-genetic-evidence-continuum-neurodevelopmental-psychiatric.html Genetics Fri, 05 Apr 2013 08:21:02 EST news284368851 (Medical Xpress)—For many years it has been thought that acid reflux and a related condition called Barrett's Oesophagus were acquired conditions, via diet, smoking and other lifestyle activities. However, recent family and twin studies have shown that those with Barrett's Oesophagus may have their genes to thank for their predisposition to this condition. http://medicalxpress.com/news/2013-04-acid-reflux-genes.html Diseases, Conditions, Syndromes Wed, 03 Apr 2013 06:24:37 EST news284189061 Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from early-onset breast cancer compared to their white counterparts. The research published in the Jan. 16 issue of The Breast Journal. http://medicalxpress.com/news/2013-03-genetic-strategies-young-black-female.html Cancer Thu, 21 Mar 2013 11:47:54 EST news283085136 A new study that combines genetic information on bowel cancer with NHS patient outcome data has found a link between family history of the disease and a better chance of survival, published in the British Journal of Cancer. http://medicalxpress.com/news/2013-03-family-history-bowel-cancer-odds.html Cancer Wed, 20 Mar 2013 05:54:52 EST news282977685 A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the database, known as PhenoDB, enables any clinician to document cases of unusual genetic diseases for analysis by researchers at the Johns Hopkins University School of Medicine or the Baylor College of Medicine in Houston. If a review committee agrees that the patient may indeed have a previously unknown genetic disease, the patient and some of his or her family members may be offered free comprehensive genetic testing in an effort to identify the disease culprit. http://medicalxpress.com/news/2013-03-database-genetic-discoveries.html Genetics Mon, 18 Mar 2013 10:09:33 EST news282820165 Combining hospital MRIs with the mathematical tool known as network analysis, a group of researchers at UC San Francisco and UC Berkeley have mapped the three-dimensional global connections within the brains of seven adults who have genetic malformations that leave them without the corpus callosum, which connects the left and right sides of the brain. http://medicalxpress.com/news/2013-02-network-analysis-abnormal-brain-responsible.html Neuroscience Thu, 28 Feb 2013 16:20:52 EST news281290843 (Medical Xpress)—Despite years of research, the genetic factors behind many human diseases and characteristics remain unknown. The inability to find the complete genetic causes of family traits such as height or the risk of type 2 diabetes has been called the "missing heritability" problem. http://medicalxpress.com/news/2013-02-genomic-case-heritability.html Genetics Fri, 22 Feb 2013 11:41:38 EST news280755675 (Medical Xpress)—As people age, or as a result of poor nutrition, heart valves can become damaged by the accumulation of calcium deposits within the tissue. This calcification causes a thickening and hardening of the tissue to the point that it limits normal blood flow. http://medicalxpress.com/news/2013-02-discovery-spurred-unique-fate.html Cardiology Thu, 21 Feb 2013 06:37:48 EST news280651061 An international team of scientists led by King's College London has discovered 24 new genes that cause refractive errors and myopia (short-sightedness). http://medicalxpress.com/news/2013-02-genes-short-sightedness.html Genetics Sun, 10 Feb 2013 13:00:09 EST news279716204 While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism. http://medicalxpress.com/news/2013-01-whole-exome-sequencing-inherited-mutations-autism.html Autism spectrum disorders Wed, 23 Jan 2013 12:00:01 EST news278160862 Stillbirth is a tragedy that occurs in one of every 160 births in the United States. Compounding the sadness for many families, the standard medical test used to examine fetal chromosomes often can't pin down what caused their baby to die in utero. In most cases, the cause of the stillbirth is not immediately known. The traditional way to determine what happened is to examine the baby's chromosomes using a technique called karyotyping. This method leaves much to be desired because, in many cases, it fails to provide any result at all. Today, some 25 to 60 percent of stillbirths are still unexplained. http://medicalxpress.com/news/2012-12-genetic-mysteries-stillbirth.html Health Thu, 06 Dec 2012 13:42:55 EST news274023764 (Medical Xpress)—A multinational research project led by the Universities of Dundee and Glasgow has identified a genetic determinant of hypertension (or high blood pressure), which could inform treatment of the condition for thousands of patients. http://medicalxpress.com/news/2012-11-genetic-hypertension.html Cardiology Thu, 22 Nov 2012 09:20:01 EST news272795207 A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability in over 50% of patients in a study conducted at Radboud University Medical Centre in Nijmegen, The Netherlands. http://medicalxpress.com/news/2012-11-unexplained-intellectual-disability-state-of-the-art-genetic.html Genetics Thu, 08 Nov 2012 13:30:07 EST news271583182 (Medical Xpress)—Five scientists, including two from Simon Fraser University, have discovered that 30 per cent of our likelihood of developing Multiple Sclerosis (MS) can be explained by 475,806 genetic variants in our genome. Genome-wide Association Studies (GWAS) commonly screen these variants, looking for genetic links to diseases. http://medicalxpress.com/news/2012-10-scientists-deepen-genetic-ms.html Genetics Thu, 25 Oct 2012 16:30:09 EST news270400835 Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in the process. http://medicalxpress.com/news/2012-10-protein-linked-intellectual-disability.html Genetics Thu, 25 Oct 2012 11:10:01 EST news270378966 One of the biggest challenges in psychiatric genetics has been to replicate findings across large studies. http://medicalxpress.com/news/2012-10-replicating-genes-bipolar-disorder.html Psychology & Psychiatry Mon, 15 Oct 2012 10:54:04 EST news269517237 McGill researchers have identified a small region in the genome that conclusively plays a role in the development of psychiatric disease and obesity. The key lies in the genomic deletion of brain-derived neurotrophic factor, or BDNF, a nervous system growth factor that plays a critical role in brain development. http://medicalxpress.com/news/2012-10-links-deletion-brain-derived-neurotrophic-factor.html Psychology & Psychiatry Mon, 08 Oct 2012 16:00:11 EST news268913433 New research published Online First in The Lancet suggests that a high proportion of severe intellectual disability results from genetic causes that are not inherited. These findings are good news for parents, indicating a low risk of passing on the disorder to further children. http://medicalxpress.com/news/2012-09-large-proportion-intellectual-disability-genetically.html Genetics Wed, 26 Sep 2012 18:30:01 EST news267895320 Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on two chromosomes makes it possible to develop screening tests for people at high risk of developing the disease. http://medicalxpress.com/news/2012-09-evidence-genetic-barrett-oesophagus.html Genetics Sun, 09 Sep 2012 14:10:49 EST news266418630 Researchers at the University of Washington have determined that the majority of genetic changes associated with more than 400 common diseases and clinical traits affect the genome's regulatory circuitry. These are the regions of DNA that contain instructions dictating when and where genes are switched on or off. Most of these changes affect circuits that are active during early human development, when body tissues are most vulnerable. http://medicalxpress.com/news/2012-09-encode-disease-hidden-genome-circuitry.html Genetics Wed, 05 Sep 2012 13:00:01 EST news266059353 An international team of researchers from King's College, Oxford University, Wellcome Trust Sanger Institute and Faculty of Medicine of University of Geneva, has discovered several thousands new genetic variants impacting gene expression some of which are responsible for predisposition to common diseases, bringing closer to the biological interpretation of personal genomes. http://medicalxpress.com/news/2012-09-genetic-role-predisposition-common-diseases.html Genetics Sun, 02 Sep 2012 13:00:19 EST news265786724 Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain. http://medicalxpress.com/news/2012-08-fragile-syndromes-pathway-intellectual-disability.html Genetics Fri, 03 Aug 2012 12:38:22 EST news263216268 A study recently published in Nature Genetics provides new evidence that the genetic makeup of the embryo may cause the appearance of tumors in adult life. These results bear out the growing theory that some tumors may have an extremely early origin, tracing to the individual's embryonic development, while offering new clues to understand the genetic causes of certain kinds of cancer, and their prevention and treatment. http://medicalxpress.com/news/2012-06-mosaicism-gaining-ground-cancer.html Cancer Tue, 12 Jun 2012 10:06:31 EST news258714383 In a study published in the May 2012 issue of the Journal of the American Academy of Child and Adolescent Psychiatry, led by Mr. Sven Sandin, of the Karolinska Institutet, Sweden and King's College London, researchers analyzed past studies to investigate possible associations between maternal age and autism. While much research has been done to identify potential genetic causes of autism, this analysis suggests that non-heritable and environmental factors may also play a role in children's risk for autism. http://medicalxpress.com/news/2012-04-higher-maternal-age-autism.html Autism spectrum disorders Thu, 26 Apr 2012 10:13:19 EST news254653988 With a 95 percent genomic similarity to humans, mice have long been used to learn about the genetic causes of human disease. Once researchers can shine a light on the genetic factors that cause disease in mice, they can start to develop prevention and treatment options to protect the human population. http://medicalxpress.com/news/2012-04-lab-mice-genetic-links-disease.html Genetics Thu, 05 Apr 2012 11:25:38 EST news252843923 (Medical Xpress) -- Researchers have identified genetic causes in nearly 1 in 5 patients who suffer a type of heart failure called dilated cardiomyopathy. http://medicalxpress.com/news/2012-03-genetic-patients-dilated-cardiomyopathy-heart.html Cardiology Tue, 27 Mar 2012 07:52:23 EST news252053513