Latest Genetic disorders Stories

SAN DIEGO, May 2, 2012 /PRNewswire/ -- Synteract, Inc., a full-service contract research organization (CRO), and Rempex Pharmaceuticals, a biopharmaceutical company developing new therapies to combat the growing issue of antibiotic resistance, have partnered for the third annual Great Strides fundraising walk to benefit the Cystic Fibrosis (CF) Foundation through participation and donations. Synteract and Rempex (on behalf of Aptalis Pharma) are also working together on clinical...

BALTIMORE, May 1, 2012 /PRNewswire/ -- Alba Therapeutics Corporation today announced that it was granted a certificate of registration for copyright of the first and only Patient Reported Outcome (PRO) questionnaire for patients with Celiac Disease (CeD). The CeD PRO questionnaire will be used as part of Alba's clinical trial program evaluating its investigational compound larazotide acetate, a novel agent belonging to a new class of drug known as a tight junction regulator. "The...

FBR Media's heartfelt television show about two children living with a rare and fatal genetic disease, called Niemann-Pick Type C, nominated for Emmy® Award WASHINGTON, May 1, 2012 /PRNewswire-USNewswire/ -- FBR Media announced today its television show "SurvivorTales: Niemann-Pick Type C" is nominated for a 2012 Emmy® Award in the documentary category of the National Academy of Television Arts and Sciences' Lower Great Lakes Chapter competition. "SurvivorTales: Niemann-Pick Type...

CHICAGO, April 30, 2012 /PRNewswire/ -- Today Ronald L. Chez, owner of 9.2% of Repligen Corporation (Nasdaq: RGEN), issued the following statement: "As a result of my constructive recent conversation with Karen Dawes, Chairperson of Repligen's Board, I plan to discuss my proxy proposal regarding the reduction from 50% to 20% of outstanding shares, to call a special meeting." In addition, "I plan to discuss strategic alternatives for Repligen in light of the positive Phase 1 results...

MR enterography is superior to CT enterography in diagnosing fibrosis in pediatric patients with Crohn disease and equally as good as CT enterography in detecting active inflammation, and a new study shows. The study, conducted at Massachusetts General Hospital in Boston, found that MR enterography was 77.6% accurate in depicting fibrosis compared to 56.9% for CT enterography. MR enterography had an 82.1% accuracy rate versus 77.6% accuracy rate for CT enterography for detecting active...

Singapore, Apr 30, 2012 - (ACN Newswire) - Scientists have discovered that they can dramatically increase the life span of mice with progeria (premature ageing disease) and heart disease (caused by Emery-Dreifuss muscular dystrophy) by reducing levels of a protein called SUN1. This research was done by A*STAR's Institute of Medical Biology (IMB) in collaboration with their partners at the National Institute of Allergy and Infectious Diseases in the United States and the Institute of Cellular...

The following research from NewYork-Presbyterian Hospital/ Columbia University Medical Center is being presented at the 64th annual meeting of the American Academy of Neurology (AAN), April 21-26, 2012, in New Orleans. ORAL PRESENTATIONS Dynamic Cerebral Autoregulation Is Transiently Impaired after Large-Vessel Acute Ischemic Stroke Authors: Nils Petersen, Santiago Ortega-Gutierrez, Andres Reccius, Amy Huang, Arjun Masurkar, and Randolph Marshall Background/Significance: Dynamic...

A team of researchers has discovered a treatment for a common metabolic disorder. The study, published by Cell Press on April 26th in the American Journal of Human Genetics, the official journal of the American Society of Human Genetics, reports that supplementation of nitric oxide (NO) in mice and man afflicted with argininosuccinic aciduria (ASA), a urea cycle disorder (UCD), results in long-term heart and neuropsychological improvements. UCDs are genetic metabolic conditions resulting...

In the spring of 2010, Baylor College of Medicine's Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen – who had been Lee's patient for most of his life – was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to normal. His heart was enlarged and not pumping well – a problem called cardiomyopathy that was the result of more than a decade of difficult-to-control high blood pressure. Finding the...

Reports new study in Biological Psychiatry Huntington disease (HD) is an inherited neurodegenerative disorder caused by a defect on chromosome four where, within the Huntingtin gene, a CAG repeat occurs too many times. Most individuals begin experiencing symptoms in their 40s or 50s, but studies have shown that significant brain atrophy occurs several years prior to an official HD diagnosis. As a result, the field has sought a preventive treatment that could be administered prior to the...