http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Contrary to conventional wisdom, short-term hearing loss after sustained exposure to loud noise does not reflect damage to our hearing: instead, it is the body's way to cope. http://medicalxpress.com/news/2013-04-concert-cacophony-short-term-loss.html Medical research Mon, 15 Apr 2013 15:00:08 EST news285240448 Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different animal models, researchers at Brown University and Boston Children's Hospital have identified a new potential mechanism for developing an SMA treatment. http://medicalxpress.com/news/2013-04-approach-spinal-muscular-atrophy.html Neuroscience Tue, 09 Apr 2013 17:00:04 EST news284745218 (Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to better understanding of the disease mechanism of each. http://medicalxpress.com/news/2013-04-mutation-short-sightedness-loss.html Genetics Mon, 08 Apr 2013 08:31:11 EST news284628664 The most common genetic cause of both ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) was recently identified as an alteration in the gene C9orf72. But how the mutation causes neurodegenerative disease appeared mysterious. Researchers at Emory University School of Medicine have demonstrated that this ALS/FTD mutation may be harmful because it creates an "RNA sponge," soaking up an important regulatory protein that binds RNA. http://medicalxpress.com/news/2013-04-rna-sponge-mechanism-alsftd-neurodegeneration.html Genetics Mon, 01 Apr 2013 15:00:07 EST news284032530 The Clinical Institute of Pathology at the MedUni Vienna has discovered a previously unknown mechanism in the regulation of gene expression that leads to the development of a chronic renal condition known as focal segmental glomerulosclerosis (FSGS). Primary FSGS is currently untreatable and can lead to secondary conditions ranging from nephrotic syndrome with severe oedema to the destruction of renal function. http://medicalxpress.com/news/2013-03-faulty-gene-triggers-kidney-disease.html Diseases, Conditions, Syndromes Wed, 20 Mar 2013 09:17:41 EST news282989851 The most common genetic cause of Parkinson's is not only responsible for the condition's distinctive movement problems but may also affect vision, according to new research by scientists at the University of York. http://medicalxpress.com/news/2013-02-uncovers-potential-link-parkinson-visual.html Parkinson's & Movement disorders Fri, 15 Feb 2013 12:31:55 EST news280153899 (Medical Xpress)—Cleveland Clinic researchers have found that colorectal cancer outcomes could be improved with regular genetic screening for Lynch syndrome, the most common hereditary, adult-onset cause of colorectal cancer, as published in the online version of the Journal of Clinical Oncology. http://medicalxpress.com/news/2013-02-clinical-screening-no1-genetic-colon.html Cancer Thu, 14 Feb 2013 10:50:01 EST news280057511 In certain dementias silent areas of the genetic code are translated into highly unusual proteins by mistake. An international team of scientists including researchers from the German Center for Neurodegenerative Diseases in Munich and the Ludwig-Maximilians-Universitat present this finding in the online edition of Science. http://medicalxpress.com/news/2013-02-error-tracked-brain-dementia-patients.html Neuroscience Thu, 07 Feb 2013 14:00:07 EST news279466196 More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source of DNA—within the genes inside mitochondria, cellular power plants that, when abnormal, contribute to complex, multisystem diseases. http://medicalxpress.com/news/2013-01-scientists-one-step-gene-mitochondrial-diseases.html Medical research Tue, 29 Jan 2013 11:00:17 EST news278679551 (Medical Xpress)—Researchers at the University of Oxford have discovered two new genetic causes of craniosynostosis, a rare bone condition that can inhibit brain growth in children. http://medicalxpress.com/news/2013-01-discovery-genetic-rare-bone-condition.html Genetics Tue, 29 Jan 2013 07:50:01 EST news278666839 In one of the first genome-wide studies to hunt for both genes and their regulatory "tags" in patients suffering from a common disease, researchers have found a clear role for the tags in mediating genetic risk for rheumatoid arthritis (RA), an immune disorder that afflicts an estimated 1.5 million American adults. By teasing apart the tagging events that result from RA from those that help cause it, the scientists say they were able to spot tagged DNA sequences that may be important for the development of RA. And they suspect their experimental method can be applied to predict similar risk factors for other common, noninfectious diseases, like type II diabetes and heart ailments. http://medicalxpress.com/news/2013-01-genes-regulatory-tags-conspire-rheumatoid.html Genetics Sun, 20 Jan 2013 13:00:19 EST news277899999 (Medical Xpress)—More than a hundred years after Alois Alzheimer identified Alzheimer's disease in a patient an analysis of that original patient's brain has revealed the genetic origin of their condition. http://medicalxpress.com/news/2013-01-alzheimer-case-full-diagnosis-years.html Alzheimer's disease & dementia Wed, 09 Jan 2013 06:28:38 EST news276935306 New research reveals a shared genetic susceptibility to epilepsy and migraine. Findings published in Epilepsia, a journal of the International League Against Epilepsy (ILAE), indicate that having a strong family history of seizure disorders increases the chance of having migraine with aura (MA). http://medicalxpress.com/news/2013-01-family-genetic-link-epilepsy-migraine.html Neuroscience Mon, 07 Jan 2013 00:00:02 EST news276686086 (Medical Xpress)—Researchers at Oregon State University today announced the discovery of an underlying genetic cause of atopic dermatitis, a type of eczema most common in infancy that also affects millions of adults around the world with dry, itchy and inflamed skin lesions. http://medicalxpress.com/news/2012-12-genetic-basis-eczema-avenue-therapies.html Inflammatory disorders Fri, 21 Dec 2012 13:14:21 EST news275318051 (Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading to impaired development of the brain, eyes and skin, and progressive failure of the heart, skeletal muscles and the immune system. http://medicalxpress.com/news/2012-12-faulty-gene-linked-condition-infants.html Genetics Wed, 12 Dec 2012 08:06:18 EST news274521971 (Medical Xpress)—Scientists have identified an underlying genetic cause for a rare disorder of motor neurones, and believe this may help find causes of other related diseases. http://medicalxpress.com/news/2012-12-scientists-genetic-rare-disorder-motor.html Genetics Fri, 07 Dec 2012 11:30:07 EST news274100042 In 1999, Dr. Huda Zoghbi and colleagues at Baylor College of Medicine identified the genetic cause of Rett syndrome (a neurological disorder that begins after birth) – MECP2 mutation. Too little of the MeCP2 protein associated with the gene causes the girls whom it affects to regress, gradually losing their speech, the use of their hands and many cognitive functions. http://medicalxpress.com/news/2012-12-mecp2-duplication-affects-immune-brain.html Medical research Wed, 05 Dec 2012 14:00:02 EST news273926510 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 A study by scientists at the Motor Neuron Center at Columbia University Medical Center suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from problems in the motor circuits that coordinate muscle movement. Previously, researchers thought that motor neurons or muscle cells were responsible. http://medicalxpress.com/news/2012-11-childhood-neuromuscular-disease.html Medical research Tue, 20 Nov 2012 08:25:44 EST news272622331 The researcher Capucine Picard, working with the team from Inserm unit 980 "Human genetics and infections diseases"/Université Paris Descartes under the leadership of Jean-Laurent Casanova, along with researchers from a CNRS/Institut Pasteur laboratory headed by Alain Israël have succeeded in identifying the part played by the HOIL1 gene in cases of paradoxal association of an immune deficiency with a chronic autoinflammatory deficiency and a muscular deficiency in 3 children from 2 different families. This study once more highlights the importance of genetics in the body's response to infectious agents. These works were published on line in the review Nature Immunology, of 28.10.12. http://medicalxpress.com/news/2012-11-hoil1-gene-rare-disease.html Immunology Thu, 01 Nov 2012 11:00:04 EST news270985361 (Medical Xpress)—A diverse team of biologists has shown using induced pluripotent stem cells (iPSCs) that a gene mutation that causes malformations in the structure of the nuclear envelope of neural cells, is associated with Parkinson's disease. In their paper published in the journal Nature, they describe how they found iPSC cells taken from Parkinson's patients over time demonstrated the same cell disruption found in neural cells taken from other deceased patient's with the disease. They also found that by introducing a compound known to disrupt the gene mutation, that they could reverse the cell malformation. http://medicalxpress.com/news/2012-10-stem-cells-neural-cell-disruption.html Parkinson's & Movement disorders Thu, 18 Oct 2012 09:40:03 EST news269768714 Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1. http://medicalxpress.com/news/2012-09-deafness-genetic-mutation.html Genetics Sun, 30 Sep 2012 13:00:01 EST news268207118 American and European scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of autism. http://medicalxpress.com/news/2012-09-boosting-natural-marijuana-like-brain-chemicals.html Autism spectrum disorders Tue, 25 Sep 2012 11:15:47 EST news267790526 (Medical Xpress)—Researchers at King's College London have for the first time identified a gene linked to age-related degeneration of the intervertebral discs in the spine, a common cause of lower back pain. http://medicalxpress.com/news/2012-09-gene-linked-age-related-degeneration-intervertebral.html Genetics Mon, 24 Sep 2012 08:17:00 EST news267693361 Working on a remote, barren peak in the Bolivian Andes, Ryan Paterson and his fellow emergency room doctors came face-to-face with everything from altitude sickness to appendicitis to complications of sickle cell anemia. http://medicalxpress.com/news/2012-09-doctors-patients-atop-remote-andean.html Diseases, Conditions, Syndromes Tue, 18 Sep 2012 08:03:00 EST news267174163 (Medical Xpress)—A team of Australian researchers, led by University of Melbourne has developed a genetic test that is able to predict the risk of developing Autism Spectrum Disorder, ASD. http://medicalxpress.com/news/2012-09-genetic-at-risk-autism-spectrum-disorder.html Autism spectrum disorders Wed, 12 Sep 2012 08:26:30 EST news266655952 Chemicals or foods that raise estrogen levels during pregnancy may increase cancer risk in daughters, granddaughters, and even great-granddaughters, according to scientists from Virginia Tech and Georgetown University. http://medicalxpress.com/news/2012-09-breast-cancer-pregnancy.html Cancer Tue, 11 Sep 2012 11:26:15 EST news266581566 Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from Newfoundland: hereditary spastic ataxia (HSA). http://medicalxpress.com/news/2012-09-genetic-discovery-hereditary-spastic-ataxiarare.html Genetics Thu, 06 Sep 2012 13:50:36 EST news266158210 Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost fifty years ago. Their study, which details how the MT1-MMP gene leads to the disease known as Winchester syndrome, appears in the August 23, 2012 online edition of The American Journal of Human Genetics. http://medicalxpress.com/news/2012-08-mystery-death-sisters-years.html Genetics Wed, 29 Aug 2012 12:35:52 EST news265462546 A team of scientists, including faculty at the University of Massachusetts Medical School (UMMS), have discovered a gene that influences survival time in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). The study, published today in Nature Medicine, describes how the loss of activity of a receptor called EphA4 substantially extends the lifespan of people with the disease. When coupled with a UMMS study published last month in Nature identifying a new ALS gene (profilin-1) that also works in conjunction with EphA4, these findings point to a new molecular pathway in neurons that is directly related to ALS susceptibility and severity. http://medicalxpress.com/news/2012-08-scientists-gene-survival-amyotrophic-lateral.html Genetics Sun, 26 Aug 2012 13:00:18 EST news265186387