http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. (Medical Xpress)—Scientists at the University of Liverpool have found that a drug treatment administered at the earliest signs of a rare genetic disease could prevent the condition from developing in later life. http://medicalxpress.com/news/2013-04-alkaptonuria-treatment-rare-genetic-disease.html Arthritis & Rheumatism Thu, 04 Apr 2013 06:54:49 EST news284277272 After years of research, the first bionic eye has seen the light of day in the United States, giving hope to the blind around the world. http://medicalxpress.com/news/2013-02-bionic-eye.html Ophthalmology Tue, 05 Feb 2013 18:21:02 EST news279310852 Johns Hopkins researchers report concrete steps in the use of human stem cells to test how diseased cells respond to drugs. Their success highlights a pathway toward faster, cheaper drug development for some genetic illnesses, as well as the ability to pre-test a therapy's safety and effectiveness on cultured clones of a patient's own cells. http://medicalxpress.com/news/2012-11-advances-stem-cells-personalized-medicine.html Medical research Mon, 26 Nov 2012 15:37:33 EST news273166640 (HealthDay)—The U.S. Food and Drug Administration has approved Afinitor Disperz (everolimus tablets for oral suspension), the first form of the anti-cancer drug Afinitor to be created especially for children. http://medicalxpress.com/news/2012-08-afinitor-disperz-rare-pediatric-cancer.html Medications Wed, 29 Aug 2012 19:10:01 EST news265483950 Noah Jackson was born without a voice. Because of a rare genetic disease, his airway was so narrow he couldn't cry at birth. In fact, he could scarcely breathe, and had surgery when he was 5 days old to implant a tracheostomy tube that let air pass through a hole in his throat. Cuddling their newborn, parents KC and Rebecca knew Noah's only hope for someday speaking and breathing normally lay in the possibility that his voice box could be surgically reconstructed later on. http://medicalxpress.com/news/2012-07-surgery-packard-children-boy-airway.html Surgery Mon, 16 Jul 2012 09:47:19 EST news261650818 A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research findings were published in Nature Genetics. http://medicalxpress.com/news/2012-06-rare-growth-disease.html Genetics Mon, 25 Jun 2012 03:40:35 EST news259814414 A study led by Manel Esteller, director of the Epigenetics and Cancer Biology Program at the Bellvitge Biomedical Research Institute (IDIBELL), professor of genetics at the University of Barcelona and ICREA researcher, has completed the first epigenome in Europe. The finding is published in the latest issue of the international scientific journal Epigenetics. http://medicalxpress.com/news/2012-05-epigenome-europe.html Genetics Wed, 30 May 2012 13:17:11 EST news257602625 Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously thought. http://medicalxpress.com/news/2012-02-cases-rare-genetic-disorder.html Arthritis & Rheumatism Mon, 13 Feb 2012 11:08:09 EST news248353654 A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision called Enhanced S-Cone Syndrome or Goldman-Favre Syndrome. In the report, scientists found that the expression of genes responsible for the healthy renewal of rods and cones in the retina was reduced and that this problem originates in the photoreceptors themselves rather than in the adjacent retinal pigment epithelial layer as once thought. http://medicalxpress.com/news/2011-08-scientists-unravel-rare-genetic-disease.html Medical research Wed, 31 Aug 2011 11:40:56 EST news234009584