http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. The group of genetic conditions known as spinocerebellar ataxias currently have no treatment or cure and are always fatal, in the case of affected children at an early age. Symptoms include a progressive lack of co-ordination of gait, and poor co-ordination of hands, speech and eye movements, due to a failure of co-ordination of muscle movements. Now researchers from France and the US have found a new way of controlling the symptoms and significantly improving the physical condition of animal models of the disease, the annual conference of the European Society of Human Genetics will hear on Monday, June 10. http://medicalxpress.com/news/2013-06-interferon-beta-aids-movement-mice-spinocerebellar.html Genetics Sun, 09 Jun 2013 18:00:01 EST news290002368 (HealthDay)—When the suspects in the Boston Marathon bombings were identified as two brothers—one of them a teenager—many parents wondered, "Who raised these boys?" Mental health experts say it's normal to want to blame parents or close relatives of young people whose violent acts lead to unfathomable tragedy, but in most cases, it's just not that simple. http://medicalxpress.com/news/2013-04-dont-blame-parents-child.html Psychology & Psychiatry Fri, 26 Apr 2013 19:20:01 EST news286221927 A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities. http://medicalxpress.com/news/2013-04-science-toxic-protein-unusual-brain.html Neuroscience Thu, 18 Apr 2013 12:18:39 EST news285506312 Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases. Among the main considerations are the anxiety of waiting for a donor organ, the risks associated with the transplant operation, and the chance that the transplant procedure will not achieve the desired result. There is also the six-figure cost of the procedure and accompanying patient care, all of which may not be completely covered by health insurance. But, according to a study appearing in the April issue of the Journal of the American College of Surgeons, researchers at the David Geffen School of Medicine, University of California–Los Angeles (UCLA), found that liver transplants are worth the risk for people who have genetic liver conditions. http://medicalxpress.com/news/2013-04-liver-transplantation-patients-genetic-conditions.html Surgery Fri, 05 Apr 2013 15:01:52 EST news284392900 Men with an inherited genetic condition called Lynch syndrome face a higher lifetime risk of developing prostate cancer and appear to develop the disease at an earlier age, according to a new study led by researchers at the University of Michigan Comprehensive Cancer Center. http://medicalxpress.com/news/2013-04-prostate-cancer-men-inherited-genetic.html Cancer Mon, 01 Apr 2013 12:21:57 EST news284037708 (Medical Xpress)—Queensland Institute of Medical Research, Griffith University and University of Queensland scientists researching a degenerative brain disease have developed a new way to understand its progression and safely test potential treatments. http://medicalxpress.com/news/2013-03-scientists-insights-incurable-brain-disease.html Genetics Fri, 22 Mar 2013 09:56:33 EST news283164971 (Medical Xpress)—Researchers at the University of Iowa have found that three volunteer women with defective amygdalas were able to experience internal fear. In their paper published in the journal Nature Neuroscience, the team describes how they were able to induce fear in the volunteers despite all three suffering from a degenerative disease that made them immune to fear in the "normal" sense. http://medicalxpress.com/news/2013-02-amygdala.html Neuroscience Mon, 04 Feb 2013 06:09:15 EST news279180321 (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 Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the pancreas. http://medicalxpress.com/news/2012-12-genetic-sequencing-breakthrough-aid-treatment.html Genetics Thu, 27 Dec 2012 13:15:56 EST news275836549 Patients with sickle cell disease rely more on the emergency room as they move from pediatric to adult health care, according to researchers at Washington University School of Medicine in St. Louis. http://medicalxpress.com/news/2012-12-adulthood-sickle-cell-patients-er.html Diseases, Conditions, Syndromes Mon, 10 Dec 2012 10:39:34 EST news274358362 (Medical Xpress)—Insights from a genetic condition that causes brain cancer are helping scientists better understand the most common type of brain tumor in children. http://medicalxpress.com/news/2012-11-clues-kids-brain-tumors.html Genetics Fri, 16 Nov 2012 07:42:49 EST news272274161 (Medical Xpress)—Scientists at the Medical Research Council (MRC) Laboratory of Molecular Biology have found that stem cells in the body's 'blood cell factory'—the bone marrow—are extremely sensitive to the main breakdown product of alcohol, which causes irreversible damage to their DNA. http://medicalxpress.com/news/2012-08-alcohol-by-product-blood-stem-cells.html Medical research Mon, 27 Aug 2012 09:43:25 EST news265279372 Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms. http://medicalxpress.com/news/2012-07-deleting-gene-results-autism-like-behavior.html Genetics Mon, 02 Jul 2012 17:33:36 EST news260469139 Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons. http://medicalxpress.com/news/2012-05-sequencing-clinical-diagnosis.html Pediatrics Tue, 08 May 2012 00:20:01 EST news255629098 Doctors in Pakistan are fighting to save the life of a baby boy born with six legs because of a rare genetic condition, hospital officials said Monday. http://medicalxpress.com/news/2012-04-pakistan-doctors-life-baby-legs.html Other Mon, 16 Apr 2012 12:35:54 EST news253798548 University of North Carolina at Chapel Hill researchers working as part of the International Cystic Fibrosis Consortium have discovered several regions of the genome that may predispose cystic fibrosis (CF) patients to develop an intestinal blockage while still in the uterus. http://medicalxpress.com/news/2012-04-gene-variations-linked-intestinal-blockage.html Genetics Sun, 01 Apr 2012 13:00:15 EST news252502985 A family suffering from a rare genetic condition in which hair grows all over the face arrived in the Nepalese capital of Kathmandu on Sunday for treatment of their "werewolf-like" appearance. http://medicalxpress.com/news/2012-03-nepal-werewolf-family-kathmandu.html Diseases, Conditions, Syndromes Sun, 25 Mar 2012 08:50:01 EST news251882039 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 Children with Down syndrome (DS) have an increased risk of developing leukemia, in particular acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Through their studies in a mouse model of DS, a team of researchers led by John Crispino, at Northwestern University, Chicago, has now identified a potential explanation as to why children with DS are at increased risk of AMKL. In doing so, they have also identified a candidate therapeutic target. http://medicalxpress.com/news/2012-02-unraveling-children-syndrome-leukemia.html Genetics Wed, 22 Feb 2012 12:55:39 EST news249137728 (Medical Xpress) -- Stanford University School of Medicine investigators have shown that iPS cells, viewed as a possible alternative to human embryonic stem cells, can mirror the defining defects of a genetic condition — in this instance, Marfan syndrome — as well as embryonic stem cells can. An immediate implication is that iPS cells could be used to examine the molecular aspects of Marfan on a personalized basis. Embryonic stem cells, on the other hand, can’t do this because their genetic contents are those of the donated embryo, not the patient’s. http://medicalxpress.com/news/2011-12-ips-cells-embryonic-stem-human.html Medical research Tue, 13 Dec 2011 06:06:07 EST news242978704 It's still unclear what's different in the brains of people with autism spectrum disorders (ASDs), but evidence from genetic and cell studies points to abnormalities in how brain cells (neurons) connect to each other. A study at Children's Hospital Boston now provides visual evidence associating autism with a disorganized structure of brain connections, as well as defects in myelin -- the fatty, insulating coating that helps nerve fibers conduct signals and that makes up the brain's white matter. http://medicalxpress.com/news/2011-12-autism-involve-disordered-white-brain.html Autism spectrum disorders Mon, 05 Dec 2011 13:23:38 EST news242313806 (Medical Xpress) -- Teacher, pilot, nurse or engineer? Sex hormones strongly influence people's interests, which affect the kinds of occupations they choose, according to psychologists. http://medicalxpress.com/news/2011-09-sex-hormones-impact-career-choices.html Psychology & Psychiatry Thu, 01 Sep 2011 09:31:37 EST news234088279 Cancer Research UK scientists have found that blocking the pathway used by some kidney cancer cells to generate energy can kill the cancer cells, sparing the healthy ones. The research is published in Nature yesterday. http://medicalxpress.com/news/2011-08-blocking-cancer-cell-energy-treatments.html Cancer Thu, 18 Aug 2011 09:34:17 EST news232878824 Neurofibromatosis (NF1) is a genetic condition which affects one in every 3,000 people. The severity of symptoms can range from benign 'cafe au lait' patches on the skin, through small tumors under the skin and deep plexiform neurofibromas, to malignant tumors of the nerve sheath. New research published in BioMed Central's open access journal BMC Medicine shows that a simple blood test for the protein melanoma-inhibitory activity (MIA) could be used to indicate the presence of neurofibromas even if they cannot be seen. http://medicalxpress.com/news/2011-07-biomarker-mia-presence-neurofibromas.html Cancer Mon, 04 Jul 2011 02:54:06 EST news228966827 Massachusetts General Hospital investigators appear to have found the mechanism behind a previously reported link between the rare genetic condition Gaucher disease and the common neurodegenerative disorder Parkinson's disease. In a report to appear in the July 8 issue of Cell and receiving early online release, they describe how disruption of the molecular pathway that causes Gaucher disease leads to the toxic neuronal deposits of the protein alpha-synuclein (α-syn) found in Parkinson's and related disorders. In addition, rising α-syn levels further inhibit the Gaucher's-associated pathway, leading to even more α-syn deposition, a finding that indicates therapies targeting this pathway may be a new option for patients with Parkinson's disease. http://medicalxpress.com/news/2011-06-rare-genetic-disorder-unique-insight.html Genetics Thu, 23 Jun 2011 13:14:03 EST news228053599 After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug Administration (FDA) and the Batten Disease Support and Research Association (BDRSA). The trial will examine whether mycophenolate mofetil, a drug FDA-approved to suppress the immune system and prevent organ rejection in children, is safe for these children and whether it can slow or halt the progression of the fatal neurodegenerative disease. http://medicalxpress.com/news/2011-05-clinical-trial-juvenile-batten-disease.html Diseases, Conditions, Syndromes Tue, 31 May 2011 11:43:12 EST news226060965 Using genetic predisposition as a factor in medical conditions presented in Canadian legal cases may diminish the impact of occupational, environmental and social factors in determining health claims, particularly workplace claims, states an analysis in CMAJ (Canadian Medical Association Journal). http://medicalxpress.com/news/2011-05-genetic-predisposition-argument-canadian-courts.html Genetics Tue, 24 May 2011 12:20:24 EST news225458400