ScienceDaily (May 31, 2012) When flies are made to lose a gene with links to Restless Legs Syndrome (RLS), they suffer the same sleep disturbances and restlessness that human patients do. The findings reported online on May 31 in Current Biology, a Cell Press publication, strongly suggest a genetic basis for RLS, a condition in which patients complain of an irresistible urge to move that gets worse as they try to rest. "Although widely prevalent, RLS is a disorder whose pathophysiological basis remains very poorly understood," said Subhabrata Sanyal of Emory University School of Medicine. "The major significance of our study is to highlight the fact that there might be a genetic basis for RLS. Understanding the function of these genes also helps to understand and diagnose the disease and may offer more focused therapeutic options that are currently limited to very general approaches." Sanyal's team recognized that a number of genome-wide association studies in humans had suggested connections between RLS and variation in a single gene (BTBD9). "BTBD9 function or its relationship to RLS and sleep were a complete mystery," Sanyal said. His team realized that there might be a way to shed some light on that mystery in … Continue reading →

As the cost of mapping out personal genomes goes down, the more potentially lifesaving but sensitive genetic data is available. Although the day when its commonplace to have that personal information in a medical record may be several years away, it is coming. And health insurers and hospitals need to think about how that information will be processed and transmitted in electronic medical records. The Air Force Medical Service is collaborating with personalized medicine research center, the Coriell Institute for Medical Research in Camden, New Jersey in a study to review and evaluate medical evidence assess, among other things, best practices for using genetic information in EMRs, according to Coriell president Dr. Michael Christman. It will look at how the data should be displayed and how it should be shared with physicians. About 2,000 active duty medical service personnel are expected to participate in the six-year Patient-Centered Precision Care Research program longitudinal study. It has already begun the recruitment process. Johns Hopkins University Applied Physics Laboratory will also offer research and program management support for the study. The institute is working on a similar study with Ohio State University Medical Center. Excerpt from: Personalized medicine study using genetic data in … Continue reading →

Public release date: 30-May-2012 [ | E-mail | Share ] Contact: Vanessa McMains vmcmain1@jhmi.edu 410-502-9410 Johns Hopkins Medical Institutions This year the Maryland Stem Cell Research Fund awarded 29 of 40 grants to Johns Hopkins researchers for the study of stem cell metabolism and regulation, the creation of new cell models for human diseases such as schizophrenia and Rett syndrome, which previously could be studied only in animals, and the development of new potential therapies. Researchers whose preliminary data promised greater discoveries were awarded Investigator-Initiated grants. Jeff Bulte, Ph.D., professor of radiology, biomedical engineering and chemical and biomolecular engineering and a member of the Institute for Cell Engineering, hopes to develop a cell therapy for treatment of type 1 diabetes an autoimmune disorder in which the immune system kills the insulin-producing cells that help regulate blood sugar. By developing cloaked stem and insulin-producing cells that can evade immune system detection, Bulte and his team hope to replace damaged cells and restore insulin levels in patients. Grants were awarded to: Several Johns Hopkins investigators were awarded Exploratory grants for researchers either new to the stem cell field or with untested but promising new ideas. Miroslaw Janowski , M.D., Ph.D., a research … Continue reading →