http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Two to three percent of the children are born with an intellectual disability. Possibly by a genetic defect, but in 80% of these cases, we do not know – yet - which genes are responsible. VIB researchers at KU Leuven show that increased production of the HUWE1 protein is the cause in some patients. http://medicalxpress.com/news/2012-08-protein-huwe1-intellectual-disability.html Genetics Fri, 31 Aug 2012 10:12:05 EST news265626718 Vaccines and antibiotics may someday join caloric restriction or bariatric surgery as a way to regulate weight gain, according to a new study focused on the interactions between diet, the bacteria that live in the bowel, and the immune system. http://medicalxpress.com/news/2012-08-microbiome-weight.html Immunology Sun, 26 Aug 2012 13:00:14 EST news265186509 Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans. http://medicalxpress.com/news/2012-07-zebra-fish-mouth-formation-fraser.html Genetics Tue, 31 Jul 2012 13:12:41 EST news262959152 A new gene therapy approach can reverse hearing loss caused by a genetic defect in a mouse model of congenital deafness, according to a preclinical study published by Cell Press in the July 26 issue of the journal Neuron. The findings present a promising therapeutic avenue for potentially treating individuals who are born deaf. http://medicalxpress.com/news/2012-07-gene-therapy-reversing-congenital-loss.html Neuroscience Wed, 25 Jul 2012 12:00:02 EST news262426482 Groups supporting people with Down's syndrome on Thursday called on the European Court of Human Rights not to recognise the right to tests that would detect the condition before birth. http://medicalxpress.com/news/2012-06-european-court-urged-accredit-syndrome.html Other Thu, 28 Jun 2012 14:49:35 EST news260113762 New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder. http://medicalxpress.com/news/2012-06-brain-cell-imbalance-account-seizure.html Neuroscience Wed, 06 Jun 2012 16:10:01 EST news258215785 A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers shows. http://medicalxpress.com/news/2012-05-evolution-gift-root-autism.html Genetics Thu, 10 May 2012 12:00:10 EST news255868881 A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic Neuropathy (LHON), an inherited genetic defect that causes rapid, permanent, and bilateral loss of vision in people of all ages, but primarily males ages 20-40. Genetic mutations in the mitochondria (part of the cell that produces energy) cause the disorder. Currently, there is no cure for LHON. http://medicalxpress.com/news/2012-04-team-breakthrough-degenerative-vision-disorder.html Ophthalmology Mon, 23 Apr 2012 17:06:00 EST news254419552 Children with multiple hereditary exostoses (MHE), an inherited genetic disease, suffer from multiple growths on their bones that cause pain and disfigurement. But beyond the physical symptoms of this condition, some parents have long observed that their children with MHE also experience autism-like social problems. Buoyed by the support of these parents, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) used a mouse model of MHE to investigate cognitive function. They found that mice with a genetic defect that models human MHE show symptoms that meet the three defining characteristics of autism: social impairment, language deficits, and repetitive behavior. The study, published online the week of March 12 in the Proceedings of the National Academy of Sciences USA, also defines the molecular and physiological basis of this behavior, pinpointing the amygdala as the region of the brain causing autistic symptoms. http://medicalxpress.com/news/2012-03-molecular-basis-autistic-symptoms-children.html Diseases, Conditions, Syndromes Mon, 12 Mar 2012 15:00:06 EST news250774961 Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that a drug called fasudil can extend the average lifespan of mice with Spinal muscular atrophy (SMA) from 30.5 days to more than 300 days. The study is published today in BioMed Central's open access journal BMC Medicine, by Dr. Rashmi Kothary, his graduate student Melissa Bowerman and others. http://medicalxpress.com/news/2012-03-fasudil-bypasses-genetic-spinal-birth.html Diseases, Conditions, Syndromes Tue, 06 Mar 2012 19:00:02 EST news250274689 UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to form a fully functioning heart. http://medicalxpress.com/news/2012-02-molecular-link-genetic-defect-heart.html Genetics Mon, 06 Feb 2012 11:25:17 EST news247749883 The first drug that treats the root cause of cystic fibrosis won approval Tuesday, offering a life-changing treatment for a handful of patients with the deadly illness and broader hope for thousands more patients with the inherited disease. http://medicalxpress.com/news/2012-01-drug-cystic-fibrosis-root.html Medications Tue, 31 Jan 2012 12:20:21 EST news247234799 Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart. http://medicalxpress.com/news/2011-12-brain-heart-link-sudden-death.html Medical research Wed, 14 Dec 2011 14:00:01 EST news243082014 Researchers are continuing their efforts in an attempt to counter the consequences of the genetic defect that causes Progeria. Until now, no model had been able to accurately imitate the effects of the disease in humans. For several years, research has been conducted in close collaboration from teams led by Nicolas Lévy and Annachiara De Sandre-Giovannoli at Inserm/Université de la Méditerranée and from a team led by Carlos López-Otín (University of Oviedo) and has succeeded in making such a model possible. The lifespan of mice treated through gene therapy is significantly extended and several other parameters related to them are improved. http://medicalxpress.com/news/2011-10-progeria-results-gene-therapy-animals.html Medical research Thu, 27 Oct 2011 13:33:56 EST news238941221 Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings, which have the potential to lead to pharmaceutical treatments for the disorder, were published today in the journal Science. http://medicalxpress.com/news/2011-10-severe-hypoglycemia.html Genetics Thu, 06 Oct 2011 14:00:11 EST news237125909 Cystic fibrosis (CF), a chronic disease that clogs the lungs and leads to life-threatening lung infections, is caused by a genetic defect in a chloride channel called cystic fibrosis transmembrane conductase regulator (CFTR). Although scientists do not fully understand how or why this defect occurs, a team of researchers at The Hospital for Sick Children (SickKids) in Toronto, Ontario, Canada has found a promising clue: a protein called ubiquitin ligase Nedd4L. http://medicalxpress.com/news/2011-09-unraveling-cystic-fibrosis.html Diseases, Conditions, Syndromes Mon, 19 Sep 2011 11:16:20 EST news235649766 In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering their cells can't keep up with the demand for energy in their developing brains. http://medicalxpress.com/news/2011-09-next-gen-dna-sequence-rare-devastating.html Medical research Tue, 06 Sep 2011 12:35:02 EST news234531285 For patients suffering from epidermolysis bullosa (EB), a hereditary skin disease, even a gentle touch is extremely painful. Now Dr. Li-Yang Chiang, Dr. Kate Poole and Professor Gary R. Lewin of the Max Delbruck Center for Molecular Medicine (MDC) in Berlin-Buch have discovered the causes underlying this disease. Due to a genetic defect, individuals with EB cannot form laminin-332, a structural molecule of the skin that in healthy individuals inhibits the transduction of tactile stimuli and neuronal branching. According to the findings of the MDC researchers, this explains why EB patients are more sensitive to touch and experience it as painful. http://medicalxpress.com/news/2011-07-patients-epidermolysis-bullosa-extreme-pain.html Neuroscience Fri, 08 Jul 2011 10:20:51 EST news229339234 A neurological scientist at Rush University Medical Center has received a grant from the National Institutes of Health (NIH) to evaluate whether cinnamon, a common food spice and flavoring material, may stop the destructive process of multiple sclerosis (MS). http://medicalxpress.com/news/2011-06-potential-impact-cinnamon-multiple-sclerosis.html Medical research Wed, 22 Jun 2011 12:39:01 EST news227965094 The road to type 2 diabetes is paved with insulin resistance, a condition often associated with obesity in which the hormone begins to fail at its job helping to convert sugars to energy. Researchers at Joslin Diabetes Center have now identified an enzyme called PKC-delta as an important molecular modifier for development of insulin resistance, diabetes and fatty liver in mice. They also have found evidence suggesting a similar role for the enzyme in humans, making PKC-delta a promising new target for drugs for diabetes and related ailments. http://medicalxpress.com/news/2011-05-tale-mice-major-factor-insulin.html Medical research Mon, 16 May 2011 12:41:45 EST news224768488 Scientists tried creating a laboratory model of idiopathic torsion dystonia, a neurological condition marked by uncontrolled movements, particularly twisting and abnormal postures. But the genetic defect that causes dystonia in humans didn't seem to work in the laboratory models that showed no symptoms whatsoever. http://medicalxpress.com/news/2011-04-scientists-abnormal-disease-pathway-dystonia.html Diseases, Conditions, Syndromes Tue, 12 Apr 2011 15:17:19 EST news221840214