http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. Elsevier today announced the publication of a recent study in Reproductive BioMedicine Online on 5-day old human blastocysts showing that those with an abnormal chromosomal composition can be identified by the rate at which they have developed to blastocysts, thereby classifying the risk of genetic abnormality without a biopsy. In a new study the same group has undertaken a retrospective study, using their predictive model to assess the likelihood of any embryo transferred resulting in a successful pregnancy, with very encouraging outcomes. http://medicalxpress.com/news/2013-05-breakthrough-ivf.html Obstetrics & gynaecology Thu, 16 May 2013 19:10:01 EST news287944763 Women whose genes put them at a high risk of contracting breast cancer can dramatically reduce the danger by having a double mastectomy—but not eliminate it altogether, experts say. http://medicalxpress.com/news/2013-05-surgery-genetic-cancer.html Cancer Tue, 14 May 2013 09:36:50 EST news287742998 (Medical Xpress)—Using the fruit fly as a model organism, neurobiologists from the Friedrich Miescher Institute for Biomedical Research have identified the L1-type CAM neuroglian as an important regulator for synapse growth, function and stability. They show that the interaction of neuroglian with ankyrin provides a regulatory module to locally control synaptic connectivity and function. http://medicalxpress.com/news/2013-04-scientists-important-synapse-stability-plasticity.html Neuroscience Thu, 25 Apr 2013 07:59:47 EST news286095579 (HealthDay)— New guidelines on testing newborns and children for genetic diseases recommend screening for childhood diseases but note that testing for diseases that strike in adulthood may not be worthwhile. http://medicalxpress.com/news/2013-02-guidelines-issued-genetic-screening-newborns.html Genetics Thu, 21 Feb 2013 13:30:01 EST news280673783 (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 The non-O ABO blood type is the most important risk factor for venous thromboembolism (blood clots in veins), making up 20% of attributable risk for the condition, according to a new study in CMAJ (Canadian Medical Association Journal). http://medicalxpress.com/news/2013-02-ab-blood-strong-factor-venous.html Diseases, Conditions, Syndromes Mon, 04 Feb 2013 12:00:02 EST news279194576 A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much greater frequency than previously thought, research led by the UC Davis MIND Institute has found. http://medicalxpress.com/news/2012-12-genetic-defect-fragile-x-related-disorders.html Genetics Thu, 20 Dec 2012 19:00:05 EST news275246640 (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 at Brigham and Women's Hospital (BWH) have discovered a new gene that regulates hemoglobin synthesis during red blood cell formation. The findings advance the biomedical community's understanding and treatment of human anemias and mitochondrial disorders. http://medicalxpress.com/news/2012-11-loss-essential-blood-cell-gene.html Medical research Wed, 07 Nov 2012 13:00:07 EST news271507940 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 A genetic screening approach to studying bone disease has found nine new genes associated with bone health and suggests a new way to discover genes that may be implicated in human skeletal diseases. A collaborative study of the mineral content, strength and flexibility of bones has found clues to the cause of bone disorders such as osteoporosis, osteogenesis imperfecta, and high bone density syndromes. The study, which brings together specialist skills in mouse gene deletion and bone measurement to assess the strength of bones in 100 mutant mouse lines, is the largest reported screen of its type for genes that regulate bone health. http://medicalxpress.com/news/2012-08-gene-deletions-mice-genes-bone.html Genetics Thu, 02 Aug 2012 17:46:24 EST news263148377 (HealthDay) -- Researchers report that a new DNA test may be able to spot an increased risk of autism in children as young as 6 months old. http://medicalxpress.com/news/2012-05-genetic-autism.html Pediatrics Wed, 16 May 2012 15:30:02 EST news256399260 Researchers at Weill Cornell Medical College and Rockefeller University have identified the first gene to be linked to a rare condition in which babies are born without a spleen, putting those children at risk of dying from infections they cannot defend themselves against. The gene, Nkx2.5, was shown to regulate genesis of the spleen during early development in mice. http://medicalxpress.com/news/2012-05-gene-linked-spleen-newborns.html Genetics Thu, 03 May 2012 15:00:03 EST news255273938 A genetic finding could help explain why influenza becomes a life-threating disease to some people while it has only mild effects in others. New research led by the Wellcome Trust Sanger Institute has identified for the first time a human gene that influences how we respond to influenza infection. http://medicalxpress.com/news/2012-03-genetics-flu-susceptibility-gene-mild.html Genetics Sun, 25 Mar 2012 13:57:05 EST news251902604 A recent large and comprehensive analysis of 50,000 genetic variants across 2,000 genes linked to cardiovascular and metabolic function has identified four genes associated with type 2 diabetes (T2D) and six independent disease-associated variants at previously known loci. The findings, which provide valuable insight into the genetic risk for T2D across multiple ethnicities, add to the growing list of genetic variants that affect the risk of developing T2D and could pave the way for identification of valuable drug targets. The research will be published by Cell Press on February 9th in The American Journal of Human Genetics, the official journal of the American Society of Human Genetics. http://medicalxpress.com/news/2012-02-genetic-diabetes-span-multiple-ethnicities.html Diabetes Thu, 09 Feb 2012 12:00:01 EST news248007170 Researchers at the Columbia University College of Dental Medicine have identified a genetic variation that raises the risk of developing serious necrotic jaw bone lesions in patients who take bisphosphonates, a common class of osteoclastic inhibitors. The discovery paves the way for a genetic screening test to determine who can safely take these drugs. The study appears in the online version of the journal The Oncologist. http://medicalxpress.com/news/2012-01-genetic-variation-linked-bisphosphonates.html Cancer Fri, 27 Jan 2012 09:50:02 EST news246879501 Researchers have developed a new genetic screening tool that will aid in the investigation of possible treatments for patients with melanoma and the unique genetic mutations that may accompany the disease, according to data presented at the AACR-NCI-EORTC International Conference: Molecular Targets and Cancer Therapeutics, held Nov. 12-16, 2011. http://medicalxpress.com/news/2011-11-panel-melanoma-mutations-door-treatment.html Cancer Tue, 15 Nov 2011 16:04:03 EST news240595419 Researchers at Mayo Clinic are hacking the genetic code that controls the human response to disease vaccination, and they are using this new cipher to answer many of the deep-seated questions that plague vaccinology, including why patients respond so differently to identical vaccines and how to minimize the side effects to vaccination. http://medicalxpress.com/news/2011-09-decoding-vaccination-reveal-genetic-underpinnings.html Diseases, Conditions, Syndromes Thu, 22 Sep 2011 12:45:49 EST news235914288 UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer. http://medicalxpress.com/news/2011-09-ut-southwestern-families-high-colorectal.html Cancer Thu, 01 Sep 2011 04:43:42 EST news234071007 Eight out of ten Australians would radically change their risky behaviour if tests showed they had a genetic susceptibility to depression, a national study has found. http://medicalxpress.com/news/2011-08-depression.html Psychology & Psychiatry Tue, 02 Aug 2011 06:07:55 EST news231476097 Researchers are developing a new way to test a woman's egg for chromosome abnormalities that avoids the need to manipulate and biopsy the egg itself. The research may also shed light on the crucial role played by certain genes in the development of chromosome abnormalities that are a major cause of miscarriages and conditions such as Down's syndrome. http://medicalxpress.com/news/2011-07-chromosome-abnormalities-genetic-faulty-eggs.html Medical research Tue, 05 Jul 2011 19:02:21 EST news229111312 Ovarian stimulation undertaken by women of advanced maternal age receiving fertility treatment may be disrupting the normal pattern of meiosis -- a critical process of chromosome duplication followed by two specialized cell divisions in the production of oocytes and sperm - and leading to abnormalities of chromosome copy numbers that result in IVF failure, pregnancy loss or, more rarely, the birth of affected children with conditions such as Down's syndrome, which is caused by the inheritance of three copies of chromosome 21. http://medicalxpress.com/news/2011-07-ovarian-chromosome-abnormalities.html Other Tue, 05 Jul 2011 10:29:05 EST news229080528 Professor William G. Kearns told the annual meeting of the European Society of Human Reproduction and Embryology that a three-day-old embryo (called a cleavage stage embryo) with an incorrect number of chromosomes (known as "aneuploidy") was capable of undergoing "a dynamic process of genetic normalisation" so that by day five, when it had developed to the blastocyst stage, it had become euploid, with the correct number of chromosomes. http://medicalxpress.com/news/2011-07-early-embryos-genetic-abnormalities.html Genetics Tue, 05 Jul 2011 10:01:09 EST news229078854 Mayo Clinic researchers have designed a new tool for identifying protein function from genetic code. A team led by Stephen Ekker, Ph.D., succeeded in switching individual genes off and on in zebrafish, then observing embryonic and juvenile development. The study appears in the journal Nature Methods. http://medicalxpress.com/news/2011-05-genetic-zebrafish-genes.html Genetics Sun, 08 May 2011 13:00:40 EST news224056027 A Short Comparative Genomic Hybridisation (CGH) method has been developed to carry out preimplantation genetic screening (PGS) by analysing all chromosomes and transferring selected embryos to the recipient uterus in the same in vitro fertilisation cycle. This eliminates the need to freeze them. http://medicalxpress.com/news/2011-04-embryonic-preimplantation-genetic-screening-techniques.html Medical research Wed, 13 Apr 2011 10:44:26 EST news221910240