GoldLab Symposium 2014 - Lucy Shapiro Lucy Shapiro, Ph.D., Professor and Director of the Beckman Center for Molecular and Genetic Medicine, Stanford University School of Medicine spoke at GLS2014. Her presentation: "The Bugs are... By: GOLDLABCOLORADO … Continue reading →

The Resilience Project seeks to find people who are unaffected by genetic mutations that would normally cause severe and fatal disorders An example of a protein complex created by a mutated gene linked to Pfeiffer syndrome, one 125 diseases and conditions that The Resilient Project is looking at. The green amino acid is where the mutation has occurred. Credit: Yevgeniy Antipin and Eric Schadt Cystic fibrosis is caused by mutations in a single gene. For people born with two mutated copies of that gene, the prognosis is often grim. They can suffer from a variety of ailments, including reduced lung function and digestive problems. Many dont live into adulthood. Mutations in single genes cause many other diseases such as Tay-Sachs disease or some types of muscular dystrophy; the prognoses for people born with these conditions are similarly bleak. Some people who have a fateful mutation, however, live healthy lives without any apparent symptoms of illness. These rare individuals are the focus of The Resilience Project, a new initiative that aims to identify people unaffected by their problematic genes and figure out how they have avoided their dismal destinies. The hope is that by studying these people, researchers can find new … Continue reading →

PUBLIC RELEASE DATE: 30-May-2014 Contact: Diana Quattrone Diana.Quattrone@fccc.edu 215-815-7828 Fox Chase Cancer Center CHICAGO, IL (May 30, 2014)Three genetic changes can predict whether a patient will benefit from chemotherapy before surgery to remove bladder cancer, according to new findings presented by Fox Chase Cancer Center researchers during the 50th Annual Meeting of the American Society of Clinical Oncology. During the study, 36 patients with muscle-invasive bladder cancer received chemotherapy before surgery, consisting of an accelerated regimen of methotrexate, vinblastine, doxorubicin, and cisplatin (AMVAC). By the time surgery rolled around, 14 patients appeared cancer-free. All but one of these patients carried mutations in at least one of three specific genes; none of these mutations were present in any of the people who still harbored traces of cancer after AMVAC. These results suggest that doctors may one day sequence patients' tumors for the presence of these three mutations, to determine who will likely benefit most from chemotherapy before surgery, said Elizabeth R. Plimack, MD, Attending Physician in the Department Medical Oncology at Fox Chase. "The purpose of the study is to find ways to identify patients who are likely to respond to early chemotherapy," said Dr. Plimack. "For those patients who won't … Continue reading →

Patients do not have an automatic right to a compassionate therapy for which there is no scientific evidence of efficacy, according to a landmark ruling of the European Court of Human Rights in Strasbourg. The 28 May ruling referred to the case of Nivio Durisotto, whose daughter suffers a degenerative brain disease. He wished her to be treated with a controversial stem cell-based therapy offered by the Stamina Foundation, based in Brescia, Italy. But more generally, it will guide any judge facing requests from desperate patients for access to unproved therapies promoted from outside the regulated medical sector. The judgement is yet another blow for the Stamina Foundation, whose president, Davide Vannoni, is now facing charges of fraudulently obtaining public money to support his therapy. The Italian Medicines Agency had closed down the Stamina operations in August 2012 on safety grounds (see Leaked files slam stem-cell therapy). In March 2013, the government issued a decree allowing patients to continue Stamina treatment if they had already begun. Then on 11 September, 2013 an expert committee appointed by the health ministry to examine the Stamina method concluded that there was no evidence to indicate that it might be efficacious (see Advisers declare … Continue reading →