PUBLIC RELEASE DATE: 18-Jun-2014 Contact: Karen Warmkessel kwarmkessel@umm.edu 41-032-889-194-104-041-53 University of Maryland Medical Center BALTIMORE June 18, 2014. The National Institutes of Health (NIH) has awarded a four-year, $3.7 million grant to researchers at the University of Maryland School of Medicine to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases. Inherited forms of diabetes, resulting from defects in HNF1A, GCK, HNF4A and a host of other genes, account for at least 1 percent or over 250,000 of diabetes cases nationwide. The actual number may be much higher because of the current challenges in correctly diagnosing those affected. The two primary forms of monogenic diabetes are maturity-onset diabetes of the young (MODY), a form of non-insulin-requiring diabetes found in young, sometimes lean, people, and neonatal diabetes mellitus (NDM), diagnosed in infants under 6 months old. The majority of these individuals are misdiagnosed with type 1 or type … Continue reading →

PUBLIC RELEASE DATE: 19-Jun-2014 Contact: Katie Delach katie.delach@uphs.upenn.edu 215-349-5964 University of Pennsylvania School of Medicine PHILADELPHIA Autoimmune disease occurs when the body's own natural defense system rebels against itself. One example is pemphigus vulgaris (PV), a blistering skin disease in which autoantibodies attack desmoglein 3 (Dsg3), the protein that binds together skin cells. Left untreated, PV can be fatal, as skin layers slough off and leave the body vulnerable to dehydration and infection. Researchers from the Perelman School of Medicine at the University of Pennsylvania recently found a shared genetic link in the autoimmune response among PV patients that provides important new clues about how autoantibodies in PV originate. Full results of the new study are available today in Nature Communications. To better understand the nature of the immune response in PV, the researchers cloned anti-Dsg3 monoclonal autoantibodies (mAbs) from four unrelated PV patients. In characterizing the mAbs, they identified a particular gene, VH1-46, that was used by PV antibodies across all four patients. "This was a very striking finding, because the common gene suggests common mechanisms for developing the disease," said senior author Aimee Payne, MD, PhD, the Albert M. Kligman Assistant Professor of Dermatology at Penn Medicine. "Most … Continue reading →

San Jose, California (PRWEB) June 24, 2014 Follow us on LinkedIn Almost every known disease, ranging from common maladies to life-threatening diseases such as cancer, has a genetic component. Genetic testing represents a rapidly growing branch of molecular diagnostics. Advancements in genetic testing are expected to aid in the development of personalized medicine. Genetic testing, which until recently was confined to specialized medical testing for rare inherited diseases, is forecast to become a standard in healthcare in the coming years. With the advent of advanced DNA analysis, the scope of genetic testing is expanding to include predictive testing (to evaluate susceptibility to common, complex diseases), pharmacogenomic testing (to evaluate varied drug response in different people owing to DNA/RNA changes), and prenatal and newborn testing (to screen for congenital abnormalities). Growing global population in general and aging individuals in particular, present a strong case for genetic testing. Prenatal testing and newborn testing represents the largest sector of the genetic testing market. With neural tube defects, Downs syndrome, and chromosomal anomalies causing significant increases in healthcare costs, their prevention and management by early genetic testing is gaining significance. Non-Invasive Prenatal Diagnosis (NIPD) market is witnessing rapid growth due to the techniques unrivalled … Continue reading →

PUBLIC RELEASE DATE: 19-Jun-2014 Contact: Robert Miranda cogcomm@aol.com Cell Transplantation Center of Excellence for Aging and Brain Repair Putnam Valley, NY. (June 19, 2014) Researchers in Taiwan have found that peripheral blood stem cells "mobilized" by a special preparation of granulocyte colony-stimulating factor (G-CSF) prior to their injection into rats modeling osteoarthritis (OA), stimulated the bone marrow to produce stem cells, leading to the inhibition of OA progression. The finding, they said, may lead to a more effective therapy for OA, a common joint disease that affects 10 percent of Americans over the age of 60. The study will be published in a future issue of Cell Transplantation and is currently freely available on-line as an unedited early e-pub at: http://www.ingentaconnect.com/content/cog/ct/pre-prints/content-ct1109Deng. "Currently, OA treatment involves the use of anti-inflammatory drugs, analgesics, lubricating supplements, or surgery," said study lead author Dr. Shih-Chieh Hung of the Department of Medical Research and Education at the Taipei Veterans general Hospital in Taiwan. "Recently, hematopoietic (blood) stem cells derived from bone marrow have emerged as a potential treatment for OA. We hypothesized that G-CSF-mobilized peripheral blood stem cells (gm-PBSCs) contain a population of primitive stem cells that have the capacity for mobility once released from … Continue reading →

PUBLIC RELEASE DATE: 24-Jun-2014 Contact: Jacob M. van Laar j.m.vanlaar@umcutrecht.nl The JAMA Network Journals Among patients with a severe, life-threatening type of sclerosis, treatment with hematopoietic stem cell transplantation (HSCT), compared to intravenous infusion of the chemotherapeutic drug cyclophosphamide, was associated with an increased treatment-related risk of death in the first year, but better long-term survival, according to a study in the June 25 issue of JAMA. Systemic sclerosis is an autoimmune connective tissue disease characterized by vasculopathy (a disorder of the blood vessels), low-grade inflammation, and fibrosis (development of excess fibrous connective tissue) in skin and internal organs. Previously, small studies have shown that systemic sclerosis is responsive to treatment with autologous HSCT, although it has been unclear whether HSCT improves survival, according to background information in the article. For this study, autologous HSCT involved a multistep process beginning with infusion of high doses of cyclophosphamide and an antibody against immune cells, followed by reinfusion of the patient's own stem cells that had been previously collected from blood and purified. Jacob M. van Laar, M.D., Ph.D., of the University Medical Center Utrecht, Utrecht, the Netherlands and Dominique Farge M.D., Ph.D, of the Assistance Publique - Hopitaux de Paris, Paris … Continue reading →