Oct. 2, 2013 A genetic condition that attacks multiple organs and usually results in fatal heart problems can be detected using a new MRI technique that was developed at the University of Alberta. The discovery of this new diagnostic tool has resulted in updated clinical guidelines for the diagnosis and treatment of Fabry disease in Canada. Faculty of Medicine & Dentistry researchers Gavin Oudit and Richard Thompson worked with Faculty colleagues Kelvin Chow and Alicia Chan on the discovery, as well as Aneal Khan from the University of Calgary. The findings were recently published in the peer-reviewed journal, Circulation -- Cardiovascular Imaging, and involved 31 Alberta patients who have the disease. Thompson and trainee Chow developed the MRI technique known as T1 mapping which can detect heart damage and changes at early stages -- earlier than regular MRI scans or ultrasound. When this type of MRI is used on patients with Fabry disease, the scans can detect both the disease and the severity of damage to the heart. The T1 mapping method developed by Thompson's group can be easily programmed onto MRIs around the world. "This test can uniquely identify Fabry disease by detecting microscopic changes in the heart muscle … Continue reading →

PHILADELPHIA This Sunday, the lifesaving efforts of the University of Pennsylvanias Basser Research Center for BRCA will take root in Congregation Rodeph Shalom at a special event to raise awareness about hereditary breast and ovarian cancers within the Jewish community. The panel discussion, which will gather medical experts and genetic counselors alongside clergy, cancer advocates, survivors and previvors, aims to call attention to a striking statistic: 1 in 40 individuals of Ashkenazi Jewish ancestry who comprise 90 percent of Jews living in the U.S. carries a BRCA mutation, more than ten times the risk of the general population. Men can carry and pass on the gene mutations, too. Experts will share the latest news on genetic testing for these mutations, which greatly increase carriers lifetime risk of developing breast and ovarian cancers and are also linked to prostate, pancreatic and colon cancers. CBS3/CW Philly 57 Medical Reporter Stephanie Stahl will emcee the event, which will include an opportunity for the audience to ask questions of the panel and for individuals to meet one-on-one with genetic counselors from Penn Medicine. This event is the first of a three-part educational series co-hosted by Penn Medicines Basser Research Center for BRCA and Living … Continue reading →

San Jose, California (PRWEB) October 04, 2013 Follow us on LinkedIn Predictive diagnostics refer to a series of genetic tests that determine individual susceptibility to diseases, individual response to specific therapies/interventions and the outcome of diseases. Genetic testing has emerged as a lucrative sector in the molecular diagnostics market led by the fact that appropriate and accurate diagnosis is the cornerstone of advanced healthcare. Predictive testing involves identifying the presence or inheritance of faulty gene among members of a family, such as those resulting in Tay-Sachs disease, cystic fibrosis, Lou Gehrig's disease, Huntington's disease and Alzheimer's disease. Predictive diagnostics are also beneficial in examining the gene composition and interaction in diseased tissue/cells to understand and determine progress of the disease as well as the response to treatment. Though a relatively small market, predictive diagnostics is witnessing steady growth owing to increasing awareness among medical professionals and patients. Proportional to rising life expectancy and mean age, chronic degenerative diseases (CDD) including cardiovascular diseases, neurodegenerative disorders, cancer and autoimmune diseases, have surged globally, translating into demand for predictive testing. The rapidly ageing society in major Western and Eastern economies is therefore a prime driver of demand for predictive diagnostics for age-related disorders. … Continue reading →

Public release date: 3-Oct-2013 [ | E-mail | Share ] Contact: Mount Sinai Press Office newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine NEW YORK (October 3, 2013) -- Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals -- seven percent of the study group -- had one copy of one or more genes when they should have had two. The scientists further report, in the American Journal of Human Genetics, that their analysis suggests the deletions may result in the miswiring and altered activity of brain neurons. "This is the first finding that small deletions impacting one or two genes appear to be common in autism, and that these deletions contribute to risk of development of the disorder," says the study's lead investigator, Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences and Neuroscience at the Icahn School of Medicine at Mount Sinai. "This conclusion needs to be … Continue reading →

Jia-Yi Li, Professor of Neuroscience, Lund University Jia-Yi Li is mainly focused on studying pathogenetic mechanisms of Parkinson's and Huntington's diseases seeking strategies for therapeutic inventions to the... By: LundUniversity … Continue reading →

Jia-Yi Li, Professor of Neuroscience, Lund University / MultiPark Jia-Yi Li is mainly focused on studying pathogenetic mechanisms of Parkinson's and Huntington's diseases seeking strategies for therapeutic inventions to the... By: MULTIPARK … Continue reading →

Oct. 4, 2013 A group of Brigham and Women's Hospital, and Harvard Stem Cell Institute researchers, and collaborators at MIT and Massachusetts General Hospital have found a way to use stem cells as drug delivery vehicles. The researchers inserted modified strands of messenger RNA into connective tissue stem cells -- called mesenchymal stem cells -- which stimulated the cells to produce adhesive surface proteins and secrete interleukin-10, an anti-inflammatory molecule. When injected into the bloodstream of a mouse, these modified human stem cells were able to target and stick to sites of inflammation and release biological agents that successfully reduced the swelling. "If you think of a cell as a drug factory, what we're doing is targeting cell-based, drug factories to damaged or diseased tissues, where the cells can produce drugs at high enough levels to have a therapeutic effect," said research leader Jeffrey Karp, PhD, a Harvard Stem Cell Institute principal faculty member and Associate Professor at the Brigham and Women's Hospital, Harvard Medical School, and Affiliate faculty at MIT. Karp's proof of concept study, published in the journal Blood, is drawing early interest from biopharmaceutical companies for its potential to target biological drugs to disease sites. While ranked … Continue reading →

WALTHAM, Mass.--(BUSINESS WIRE)-- Kala Pharmaceuticals, Inc., a leading developer of innovative products that rapidly and effectively penetrate the mucosal barrier to treat ocular diseases, announced today that Hongming Chen, Sc.D., Kalas Executive Vice President of Research, is scheduled to present at the 3rd Annual Partnership Opportunities in Drug Delivery conference being held October 10-11, 2013 at the Fairmont Copley Plaza in Boston, MA. Dr. Chens presentation will take place on Thursday, October 10, 2013 at 2:00 p.m. ET during the Drug Delivery Formulation Technologies session. About Kala Pharmaceuticals Kala Pharmaceuticals, Inc. is advancing innovative treatments for ocular diseases addressing significant unmet needs in both front and back of the eye based on the Companys proprietary Mucus Penetrating Particle (MPP) technology. Kalas topical ocular MPP formulations enhance penetration of diverse therapeutic agents into ocular tissue, including those in the back of the eye, by facilitating penetration through the mucus layer of tear film. Kalas product development pipeline includes: a 1% formulation of loteprednol etabonate (1% LE-MPP) to treat post-surgical ocular inflammation and pain, expected to enter a pivotal clinical study in 2014; a 0.25% LE-MPP formulation for dry eye, blepharitis, and retinal disease, expected to enter clinical trials in 2014, and … Continue reading →