Public release date: 8-May-2013 [ | E-mail | Share ] Contact: Megan Lustig mlustig@spectrumscience.com 202-955-6222 Kennedy Krieger Institute (Baltimore, MD) In new findings published on May 8, 2013 in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause a genetic mutation that occurs before birth of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States. "This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks," said co-senior study author, Anne Comi, M.D., Director of the Kennedy Krieger Institute's Hunter Nelson Sturge-Weber Center. "Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time." Sturge-Weber syndrome is a neurological and skin disorder associated with port-wine birthmarks on the face, glaucoma, seizures, intellectual impairment and weakness on one or both sides of the body. Current treatment options for children with SWS are limited, but include … Continue reading →

WALTHAM, Mass.--(BUSINESS WIRE)-- Interleukin Genetics, Inc. (ILIU) announced today the online publication in Osteoarthritis and Cartilage of a study with investigators at the Thurston Arthritis Research Center of the University of North Carolina entitled, IL-1 receptor antagonist gene as a predictive biomarker of progression of knee osteoarthritis in a population cohort. The newly published paper reports that individuals with radiographic knee osteoarthritis (OA) with a specific pattern of gene variations in the interleukin-1 receptor antagonist gene (IL1RN), which is involved in controlling inflammation, were more likely to progress to severe disease than those without the gene variations. In addition, the effect of these gene variations was particularly important in those with high body mass index, while not having a strong effect in those with lower body mass index. The study was performed under the direction of Dr. Joanne Jordan, Director of the Thurston Arthritis Research Center at the University of North Carolina. Progression of knee osteoarthritis often leads to severe disability and total knee replacement in many patients. The factors determining progression are poorly understood, said Dr. Jordan, and the genetic markers we reported appear to substantially improve our ability to identify which knee OA patients are more likely to … Continue reading →

SAN FRANCISCO and BOSTON, May 8, 2013 (GLOBE NEWSWIRE) -- CollabRx, Inc. (CLRX), a data analytics company focused on informing the clinical interpretation of molecular diagnostic testing, and GeneInsight LLC., a leading developer of software to support knowledge management and reporting for genetic testing laboratories, today announced an agreement to deliver a unique medical informatics solution to support the interpretation and reporting of genetic variants from sequencing-based tests. CollabRx and GeneInsight maintain that their joint initiative is designed to establish a robust medical informatics solution to support genetic sequencing, interpretation, and reporting in the clinical laboratory. GeneInsight has been in use since 2005 and has supported the interpretation and reporting workflow for more than 30,000 clinical genetic tests across multiple diagnostic reference laboratories. Under terms of the agreement, CollabRx medical and scientific content will be made accessible through the GeneInsight knowledge management platform. Initially focused on oncology, the combined offering will be available to the clinical laboratory market. "We are excited to work with GeneInsight to provide a key medical informatics capability to the genetic testing laboratory market to accelerate adoption of next generation sequencing-based tests for cancer and beyond," said Thomas R. Mika, CollabRx Chairman, President and Chief Executive … Continue reading →

IRVINE, Calif., May 8, 2013 /PRNewswire/ -- Aviir Inc., a biotechnology company dedicated to the prevention of cardiovascular disease through innovative laboratory tests, announced that it will be extending its offered services with comprehensive inherited cardiovascular disease genetic test menu. (Logo: http://photos.prnewswire.com/prnh/20130319/LA79677LOGO) The newly validated tests cover the major causes of cardiomyopathies, arrhythmia disorders, and other genetically transmitted diseases that affect the heart and vasculature. Each test is available for testing in both individual and familial settings. Two comprehensive panels are available to check for undiagnosed arrhythmia or cardiomyopathy. "Aviir's mission is to identify and prevent cardiovascular diseases, and subsequent deaths, through the best diagnostic means available," said Doug Harrington, M.D., CEO of Aviir. "To this end we've added a comprehensive list of inherited cardiovascular disease testing to our menu. This type of testing can be the difference between effective disease management and needless risk of sudden cardiac death. The novel approach Aviir has taken to identify disease-causing genetic variants allows for not only an unprecedented level of thoroughness (ie. 100% coverage of the disease-causing genes), but also for unmatched speed in returning results to physicians and patients." Genetic testing can help determine a successful course of treatment for the … Continue reading →

Public release date: 8-May-2013 [ | E-mail | Share ] Contact: Sue McGreevey smcgreevey@partners.org 617-724-2764 Massachusetts General Hospital Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia a lack of muscle coordination and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families. "This study highlights, for the first time, the importance of the ubiquitin system in a syndrome characterized by ataxia and hypogonadotropic hypogonadism reproductive failure due to abnormal signaling from the brain or pituitary gland," says Stephanie Seminara, MD, of the Reproductive Endocrine Unit in the MGH Department of Medicine, co-senior author of the report. "It also demonstrates how combining robust genomics with detailed functional assays can unlock complex genetic architecture." Caused by lesions in the part of the brain responsible for coordination and balance, cerebellar ataxia can begin with difficulty walking or speaking and progress to complete disability of those … Continue reading →