http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. New study published in Reproductive Biomedicine Online shows that fluid-filled cavity in 5-day old human blastocysts may contain DNA from the embryo, allowing diagnosis of genetic disease without a biopsy http://medicalxpress.com/news/2013-04-sampling-embryonic-dna-ivf-biopsy.html Medical research Tue, 02 Apr 2013 07:37:28 EST news284107039 A team led by Vanderbilt University investigators has discovered two new genes – both coding for the signaling protein calmodulin – associated with severe early-onset disorders of heart rhythm. The findings, reported online Feb. 6 in the journal Circulation, expand the list of culprits that can cause sudden cardiac death and may point to new therapeutic approaches. http://medicalxpress.com/news/2013-02-calcium-binding-protein-mutations-heart-rhythm.html Cardiology Wed, 06 Feb 2013 13:00:13 EST news279377526 Germany's upper house of parliament on Friday gave its green light to testing embryos after in vitro fertilisation in certain cases after a passionate ethical debate in the country on the issue. http://medicalxpress.com/news/2013-02-germany-genetic-embryos.html Obstetrics & gynaecology Fri, 01 Feb 2013 10:39:25 EST news278937551 (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 When a child is born with a disorder of sex development, decisions regarding gender assignment and genital surgery are often made quickly and under pressure. http://medicalxpress.com/news/2013-01-u-m-parents-children-disorders-sex.html Health Wed, 16 Jan 2013 15:38:25 EST news277573098 Researchers of the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have developed and validated a new method to diagnose hereditary breast and ovarian cancer syndrome based on mass sequencing of BRCA1 and BRCA2 genes. The model is based on a genetic and bioinformatic analysis which has been proved very effective. The new protocol has been described in an article published in the European Journal of Human Genetics. http://medicalxpress.com/news/2013-01-spanish-method-hereditary-breast-ovarian.html Cancer Wed, 16 Jan 2013 13:07:05 EST news277563973 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 Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics centres of the university hospitals of Maastricht and Brussels. The results follow a review of the largest number of PGD treatments for BRCA1/2 in Europe and were presented today at the annual meeting of ESHRE (European Society of Human Reproduction and Embryology) by Professor Willem Verpoest from the Centre for Reproductive Medicine at Vrije Universiteit Brussel, Belgium. http://medicalxpress.com/news/2012-07-hereditary-breast-ovarian-cancer-pgd.html Cancer Mon, 02 Jul 2012 04:10:27 EST news260421020 Nuremberg, Germany: The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics today (Monday). The scientists were able to perform a genetic diagnosis in around 20% of 100 cases of patients with intellectual disability (ID) and 50% of the 25 cases of blindness studied. Not only is the exome test cheaper, but results are available more quickly than with Sanger sequencing[1], they say. http://medicalxpress.com/news/2012-06-exome-sequencing-cheaper-faster-diagnosis.html Genetics Mon, 25 Jun 2012 02:47:57 EST news259811262 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 Research conducted at the Oregon National Primate Research Center at Oregon Health & Science University helps answer some long-standing questions about how certain disease-causing gene mutations are inherited. http://medicalxpress.com/news/2012-05-mitochondrial-genes-mother-child.html Genetics Thu, 03 May 2012 14:00:02 EST news255271851 Scientists at The University of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases. http://medicalxpress.com/news/2012-03-next-generation-dna-sequencing-diagnosis-muscular.html Medical research Mon, 05 Mar 2012 11:44:41 EST news250170265 BGI, the world's largest genomics organization, developed single-cell genome sequencing technology and published two research papers for cancer single-cell sequencing in the research journal Cell. In the papers, which were published today in the same issue of Cell, BGI researchers applied their new single-cell sequencing (SCS) method to identify the genetic characteristics of essential thrombocythemia (ET, a kind of blood neoplasm) and clear cell renal cell carcinoma (ccRCC, a typical kidney cancer), and demonstrated that single cell analyses of highly heterogeneous tissues provide much clearer intratumoral genetic pictures and developmental history than previous bulk tissue sequencing. http://medicalxpress.com/news/2012-03-single-cell-sequencing-era-cancer.html Genetics Fri, 02 Mar 2012 10:47:05 EST news249907619 Over 28 million Americans are hearing impaired, and 50 percent of these cases can be traced to genetic causes. The condition can be especially challenging for children born hearing impaired because spoken language, reading, and cognitive development are tied to hearing. That makes early diagnosis essential for identifying appropriate therapy and treatment. http://medicalxpress.com/news/2011-09-loss-fraction.html Genetics Wed, 14 Sep 2011 09:21:23 EST news235210867 World-renowned genetics expert Aubrey Milunsky, MD, DSc, has penned a new book focused on new DNA tests that have dramatically expanded our ability to avoid, prevent, diagnose, predict and treat many genetic disorders. Based on a lifetime of experience, he recounts the lessons learned from many families who benefitted from new advances in genetics, or could have, if they had only known. The book, Your Genes, Your Health: A Critical Family Guide That Could Save Your Life, provides important information about many genetic disorders, more especially since each of us unwittingly carries a significant number of harmful genes. http://medicalxpress.com/news/2011-08-busm-professor-authors-knowledge-genes.html Genetics Fri, 26 Aug 2011 11:46:57 EST news233577994 Pre-implantation genetic diagnosis (PGD) can give women at risk of passing on a mitochondrial DNA disorder to their offspring a good chance of being able to give birth to an unaffected child, a researcher told the annual conference of the European Society of Human Genetics today (Monday). Dr. Debby Hellebrekers, from Maastricht University Medical Centre, Maastricht, The Netherlands, said that the scientists' findings could have a considerable effect on preventing the transmission of mitochondrial diseases. http://medicalxpress.com/news/2011-05-pgd-birth-healthy-children-women.html Genetics Mon, 30 May 2011 07:58:27 EST news225961096 Researchers at the Johns Hopkins University School of Medicine have devised a new technique, which helps couples that are affected by or are carriers of genetic diseases have in vitro fertilized babies free of both the disease in question and other chromosomal abnormalities. The results were reported in the April issue of Fertility and Sterility. http://medicalxpress.com/news/2011-05-genetic-technology-ivf-embryos.html Medical research Mon, 23 May 2011 16:11:30 EST news225385872