REDWOOD CITY, Calif., Feb. 20, 2013 /PRNewswire/ -- Ingenuity Systems, a leading provider of biomedical information and analysis solutions, today announced that the company will complete comprehensive curation of all human phenotype-implicated mutations in the peer-reviewed biomedical literature. The comprehensive curation of hereditary, cancer and pharmacogenetic mutations will be integrated into the Ingenuity Knowledge Base and made available in Ingenuity Variant Analysis, a web-based analysis application that enables rapid identification of causal variants for human diseases from sequencing data. "Human genome interpretation requires up-to-date, accurate and comprehensive information on populations' variant frequencies, causal network interactions, curated disease models and evidence from the biomedical literature in order to establish strong links from variants, genes and pathways to diseases and optimal treatment," said Dr. Christopher E. Mason, Assistant Professor, Weill Cornell Medical College. "Ingenuity's commitment to provide ready access to high-quality, comprehensive and structured biomedical content will enable us to achieve the next level of fast, in-depth genome interpretation that is so critical to unlocking the full potential of personalized and precision medicine." The Ingenuity Knowledge Base is a 14 year effort to accurately, manually curate and computationally structure the biomedical literature, all human disease implicated variants and the thousands of disease … Continue reading →

SAN CARLOS, Calif.--(BUSINESS WIRE)-- Natera, a leading innovator in reproductive and prenatal genetic testing, today announced that the companys non-invasive prenatal screening test, Panorama, will launch on March 1 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X (Turners syndrome). In clinical validation studies, Panorama demonstrated a sensitivity of greater than 99% when detecting common chromosomal abnormalities such as trisomy 21, trisomy 18 and trisomy 13; and 92% when detecting monosomy X. In addition, Panorama demonstrated a specificity of 100% with no false positives for all the syndromes tested. The test uses fetal cell-free DNA found in maternal blood and works as early as nine weeks gestation. Panoramas clinical validation data was presented live at the annual Society of Maternal Fetal Medicine Meeting on February 15, 2013. We have spent several years refining our proprietary technology to bring the best screening test possible to expecting parents, and today we are proud to launch Panorama, said Matthew Rabinowitz, Ph.D., chief executive officer of Natera. Our teams efforts have created a very reliable, yet safe non-invasive prenatal test that screens for common fetal chromosomal diseases and … Continue reading →

The first of its kind, an investigational drug, may enhance the bodys stem cell response at the site of cardiovascular injury. Tampa, Florida (PRWEB) February 21, 2013 Dr. Charles Lambert, Medical Director of Florida Hospital Pepin Heart Institute and Dr. Leslie Miller, Director of the USF Heart Institute, are leading the way for the randomized, placebo-controlled trial which spans 10 sites across the United States. The study, called the STOP-HF, will enroll 90 patients nationwide. Heart failure (HF) can occur when the muscles of the heart become weakened and cannot pump blood sufficiently throughout the body. The injury is most often caused by inadequate blood flow to the heart resulting from chronic or acute cardiovascular disease, including heart attacks. Considerable scientific evidence has emerged over the past decade demonstrating the high therapeutic potential of regenerative medicine for a host of diseases. Heart failure is a leading cause of death, disability and hospitalization. Dr. Charles Lambert is performing the gene therapy by direct injection into the heart using an investigational system in the catheterization laboratories at Florida Hospital Pepin Heart Institute. Pepin Heart and Dr. Kiran C. Patel Research Institute and USF are exploring and conducting leading-edge research to develop break-through … Continue reading →

By JEROME R. STOCKFISCH | Tribune staff Published: February 21, 2013 Updated: February 21, 2013 - 12:00 AM One helped bring the nascent Internet into our homes and now hopes to send tiny robotic cameras and surgical instruments into our bodies. Another maintains that solar power must play a significant role in U.S. energy needs. Another demonstrated that bone marrow and stem cells can be transformed into neural cells that may help victims of stroke, spinal cord injury and Lou Gehrig's disease. Five University of South Florida professors, along with the head of Moffitt Cancer Center who holds a joint appointment to USF, have now been recognized for their career accomplishments by being named charter fellows in the National Academy of Inventors. The accolades reflect the fact that USF is now the No. 1 university in the state in generating patents. "I think this is one of the most prestigious of recognitions if you look at the kind of fellows that were selected and the judges," said Shyam Mohapatra, a distinguished health professor and new fellow. "It's very exciting. I feel good that I was selected." The academy recognized 101 scientists, innovators and academic leaders from around the world for … Continue reading →

Feb 19 2013 A teenager recovering from cancer has met the stranger who donated the stem cells which saved her life. Chloe Jarvis, 13, had an emotional meeting with German man Roland Hauessler, 50, in London at an event to increase the pool of potential donors. Chloe, from Shotts, North Lanarkshire, was diagnosed with leukaemia in 2008 and is now close to being given the all-clear thanks to the transplant she received a year later. The operation was only possible after doctors found an 100% match in Mr Hauessler's donated stem cells. Chloe said: "When I got told I was going to need a stem-cell treatment, I remember just crying non-stop. I thought that it was over but it wasn't. When they told me they had found a 100% match it was a shocker as they said it was a really rare type of leukaemia. I'm now in my last check-up before I get the all-clear." Chloe was diagnosed with acute myeloid leukaemia in April 2008 and received her transplant the following February. She and Mr Hauessler have kept in touch through the years but have now met for the first time. Mr Hauessler, who travelled from Nuremberg to meet … Continue reading →