PHILADELPHIA Just like a massive iceberg jutting out of the ocean, many of cancers genetic underpinnings remain hidden under the surface, impossible to predict or map from above. The foreboding shadows and shapes that appear on CT scans and MRIs and even in the field that doctors see when they zoom in to look at cancer cells under a high-powered microscope are just the tip of the iceberg. Penn Medicines new Center for Personalized Diagnostics, a joint initiative of the department of Pathology and Laboratory Medicine in the Perelman School of Medicine and the Abramson Cancer Center, is diving deeper into each patients tumor with next generation DNA sequencing. These specialized tests can refine patient diagnoses with greater precision than standard imaging tests and blood work, all with an aim to broaden treatment options and improve their efficacy. Were using the most advanced diagnostic methods to unlock cancers secrets, says David B. Roth, MD, PhD, chairman of the department of Pathology and Laboratory Medicine. A tumors genomic profile is the most critical piece of information for an oncologist to have when theyre deciding what therapy to recommend. The results of tests in the Center for Personalized Diagnostics reveal a genetic … Continue reading →

Public release date: 5-Apr-2013 [ | E-mail | Share ] Contact: Sally Garneski pressinquiry@facs.org 312-202-5409 American College of Surgeons Chicago (April 5, 2013): Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases. Among the main considerations are the anxiety of waiting for a donor organ, the risks associated with the transplant operation, and the chance that the transplant procedure will not achieve the desired result. There is also the six-figure cost of the procedure and accompanying patient care, all of which may not be completely covered by health insurance. But, according to a study appearing in the April issue of the Journal of the American College of Surgeons, researchers at the David Geffen School of Medicine, University of CaliforniaLos Angeles (UCLA), found that liver transplants are worth the risk for people who have genetic liver conditions. The study is a first-of-its-kind, single-institution comparison of outcomes for both pediatric and adult patients undergoing liver transplantation for lethal genetic syndromes. Researchers found that children with genetic disorders that cause fibrosis, cirrhosis, and other liver conditions, which can affect … Continue reading →

Apr. 5, 2013 Patients faced with the diagnosis of a life-threatening liver disease have to consider the seriousness of having a liver transplant, which can be a definitive cure for many acquired and genetic liver diseases. Among the main considerations are the anxiety of waiting for a donor organ, the risks associated with the transplant operation, and the chance that the transplant procedure will not achieve the desired result. There is also the six-figure cost of the procedure and accompanying patient care, all of which may not be completely covered by health insurance. But, according to a study appearing in the April issue of the Journal of the American College of Surgeons, researchers at the David Geffen School of Medicine, University of California-Los Angeles (UCLA) found that liver transplants are worth the risk for people who have genetic liver conditions. The study is a first-of-its-kind, single-institution comparison of outcomes for both pediatric and adult patients undergoing liver transplantation for lethal genetic syndromes. Researchers found that children with genetic disorders that cause fibrosis, cirrhosis, and other liver conditions, which can affect other organs, have a good chance of still being alive five years, even 20 years after a liver transplant operation. … Continue reading →

4 April 2013 Last updated at 20:33 ET Genetic markers that could help highlight who is at risk of developing Alzheimer's disease have been identified by US scientists. The research in Neuron identifies mutations that affect the build-up of certain proteins in the brain. High levels of these tau proteins increase the chance of having the disease. UK experts said the study could help understand the changes that occur in the brains of Alzheimer's patients. Tangles of a kind of tau called phosphorylated tau (ptau) are a hallmark of the disease. One of the new gene variants identified by the Washington University School of Medicine team was also shown to be linked to a small increased risk of developing Alzheimer's and a greater risk of cognitive decline. The team used genetic information from more than 1,200 people, significantly larger than previous studies in this area. Dr Alison Goate, who led the study, said: "We anticipate that knowledge about the role of these genes in Alzheimer's disease may lead to the identification of new targets from therapies or new animal or cellular models of the disease. UK experts said the study adds to the number of genetic markers that have been … Continue reading →

Scientists have identified early genetic markers that can potentially predict who is at an increased risk for developing Alzheimers, Medical Daily reported. Currently, in order to determine if someone will develop Alzheimers disease, doctors use tests that analyze the amount of Tau protein buildup in the central nervous system. The more Tau in an individuals system, the more likely he or she will progress towards dementia. However, there was no system to help determine who will start expressing this protein years ahead of time until now. Researchers from Washington University School of Medicine in St. Louis have identified genetic mutations that can influence the accumulation of Tau proteins, according to Medical Daily. This discovery could potentially lead to an early genetic test, which could help reveal those who are most at risk for Alzheimers leading to earlier, more effective treatments. "We have identified several genes that influence the levels of soluble tau in the cerebrospinal fluid, senior author Dr. Alison Goate, of WU School of Medicine, told Medical Daily, and we show that one of these genes also influences risk for Alzheimer's disease, rate of cognitive decline in Alzheimer's disease, and density of tangle pathology in the brain." After performing … Continue reading →