ALAMEDA -- An Alameda family with two children affected by a rare disease is participating in a fundraiser Saturday in a special way. Father George Penston and daughter Izzy, 13, will bike in Ride Ataxia NorCal 2014 near Davis. The fundraising bike ride aims to raise financial resources and awareness of Friedreich's Ataxia, a degenerative neuromuscular disorder now lacking treatment. For the research benefit, Izzy will use a custom-made bicycle. "I think Friedreich's Ataxia Research Alliance is unique because they are working really hard to cure FA, and everyone that works there is awesome," said Izzy, a seventh-grader at Lincoln Middle School. "I would love for (the group to find) a cure for Friedreich's Ataxia and would be very happy if a drug could stop the disease from progressing because then my brother, Owen, would never need a wheelchair." Izzy sees specialists at UCLA as part of a study sponsored by Friedreich's Ataxia Research Alliance. She also receives care at the Muscular Dystrophy Association clinic at UCSF. "Izzy was tested at age 9, when things were not quite right," said mother Zoe. "The illness is so rare." It affects about one out of every 50,000 people worldwide. "Of course, when … Continue reading →

Lack of a particular stretch of DNA can lead to cleft lip (bottom) in mice. Credit: EMBL/V.V.Uslu Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, have identified how a specific stretch of DNA controls far-off genes to influence the formation of the face. The study, published today in Nature Genetics, helps understand the genetic causes of cleft lip and cleft palate, which are among the most common congenital malformations in humans. "This genomic region ultimately controls genes which determine how to build a face and genes which produce the basic materials needed to execute this plan", says Franois Spitz from EMBL, who led the work. "We think that this dual action explains why this region is linked to susceptibility to cleft lip or palate in humans." Previous studies had shown that variations in a large stretch of DNA are more frequent in people with cleft lip or cleft palate. But there are no genes in or around this DNA stretch, so it was unclear what its role might be. To answer this question, Spitz and colleagues genetically engineered mice to lack that stretch of DNA, as the mouse and human versions are very similar, and are therefore likely … Continue reading →

NEW YORK (TheStreet) --Foundation Medicine (FMI) is a good company in what many believe is an almost-impossible sector -- diagnostics. Bears believe diagnostic tests become commoditized with vanishing profit margins and no real winners. Diagnostic companies are simply providers of hardware (or a simple operator of hardware) vulnerable to relatively low barriers to entry. Even if a company roils out a successful diagnostic test, fast followers introduce similar tests and profit margins disappear. There is certainly a kernel of truth to these bearish arguments but Foundation Medicine has a comparative advantage over other diagnostic companies which investors are failing to recognize. The price of a particular diagnostic test may fall over time (the rapidly diminishing cost to sequence the whole genome is a great example) but more important is what happens when adoption of these tests accelerates and the Big Data assembled from them are put to use treating patients. Foundation Medicine's current FoundationOne cancer diagnostic examines about 236 genes and four types of alterations. While you can tout the advantage of a single test that comprehensively analyses information versus a series of more specific tests, the point is this is a lot of data. If you take the low … Continue reading →

PUBLIC RELEASE DATE: 28-May-2014 Contact: Stephanie Desmon sdesmon1@jhmi.edu 410-955-8665 Johns Hopkins Medicine A multicenter team of researchers report that a commercial test designed to rule out the presence of genetic biomarkers of prostate cancer may be accurate enough to exclude the need for repeat prostate biopsies in many if not most men. "Often, one biopsy is not enough to definitively rule out prostate cancer," says study researcher Jonathan Epstein, M.D., director of the Division of Surgical Pathology and a professor of pathology, urology and oncology at the Johns Hopkins University School of Medicine. "Our research finds that by looking for the presence or absence of cancer in a different way, we may be able to offer many men peace of mind without putting them through the pain, bleeding and risk of infection that can come with a repeat biopsy." The new research, called the Detection of Cancer Using Methylated Events in Negative Tissue (DOCUMENT) study, suggests that an initial biopsy complemented with an epigenetic diagnostic test accurately rules out the existence of cancer up to 88 percent of the time. The test, developed by MDxHealth, which paid for the study, was described online in April in The Journal of Urology. … Continue reading →

SINGAPORE: Australia-based stem cell therapy firm Mesoblast has announced plans to accelerate commercial manufacturing operations in Singapore. This is to prepare for new product launches in the United States and other major markets over the next couple of years. Its existing operations in Singapore include making stem cell products for clinical trials under its contract with its partner, pharmaceutical company Lonza. One of its key products still awaiting full approval is Prochymal, which Mesoblast says can help to more than double the survival rate of patients suffering from complications after receiving tissue transplants from donors -- known as graft versus host disease. The global stem cell market is expected to grow at an average annual rate of 12 per cent between 2011 and 2016 to reach more than S$8 billion by 2016. Mesoblast said commercial manufacturing requires a much larger capacity and operations must be scaled-up to meet regulatory demands. Silviu Itescu, chief executive at Mesoblast, said: "We are now in a phase of making more investments in order to get our processes to commercial scale. That anticipates successful commercial launches. "If we're successful in that over the next 18-24 months, then we're going to leverage the investment in our … Continue reading →