Public release date: 2-Aug-2012 [ | E-mail | Share ] Contact: William Raillant-Clark w.raillant-clark@umontreal.ca 514-343-7593 University of Montreal This press release is available in French. Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement. The researchers will be publishing their findings tomorrow in The American Journal of Human Genetics. Exactly why this shaking occurs has remained unknown, despite the work of many clinicians and researchers for decades. While it is known that there is a problem with the parts of the brain that control certain muscles, it has been a challenging endeavor to identify what exactly is malfunctioning in the nervous system of affected individuals. Despite strong evidence that the disease has a genetic basis and years of research effort, no actual genetic link had been identified until today. Scientists already knew that mutations in a gene called FUS (Fused in Sarcoma) cause amyotrophic lateral sclerosis (ALS), a disease of … Continue reading →

Public release date: 2-Aug-2012 [ | E-mail | Share ] Contact: Elisabeth Lyons elyons@cell.com 617-386-2121 Cell Press Genetics clearly plays a role in cancer development and progression, but the reason that a certain mutation leads to one cancer and not another is less clear. Furthermore, no links have been found between any cancer and a type of genetic change called "copy-number variants," or CNVs. Now, a new study published by Cell Press in The American Journal of Human Genetics on August 2 identifies CNVs associated with testicular cancer risk, but not with the risk of breast or colon cancer. Some cancers, including breast and colon cancer, are caused by mutations that are passed from one generation to the next. However, most cancers, including testicular cancer, are sporadicthey arise without a family history of cancer. Many of these sporadic cancers result from genetic mutations in germ cellsthe cells involved in reproductioneven though neither parent has the mutation. Scientists call these "de novo" mutations. In order to identify rare de novo mutations associated with cancer risk, Dr. Kenneth Offit and colleagues searched for CNVs, which are duplications or deletions of one or more sections of DNA, in cancer patients and their cancer-free … Continue reading →

Will Explore Major Advancements, Innovations, Challenges, and Evolving Business Models Newswise As advancements in genetic testing, personalized medicine and molecular diagnostics continue to reach new heights, they are also facing the growing pains and challenges of an emerging industry struggling with policy, regulatory framework, industry standards, and product commercialization. At the 4th Annual Consumer Genetics Conference, the fields preeminent researchers, clinicians, government regulators and industry leaders will provide their varying perspectives on this evolving field, and the crucial topics surrounding its implications to clinical health and medicine. In this highly interactive forum, panel participants will represent a broad spectrum of viewpoints, and will engage in an open discussion on best practices and policies, as well as new advancements and challenges. Through the course of this dynamic exchange, the future of consumer-based genetics will be explored, examined, and shaped. Major themes to be covered at this conference include: Big Data/Analysis, Molecular Diagnostics, Sequencing, Translational Genomics, Venture Capital and Investment Banking, Genome Data: The Physicians Perspective, Genome Interpretation, Visions for Personalized Medicine, Prenatal/Neonatal Diagnostics, Nutrition, Food Genetics and Cosmetics, Disease Diagnostics, The Empowered Patient, and Consumer Genetics Companies Please note, a significant discounted price to this conference is available until end-of-day August … Continue reading →

Winning government approval would be the first step in increasing public confidence in personalized genetic testing Maciej Frolow / Photodisc / Getty Images Earlier this week, the personal gene-testing company 23andMe announcedthat its seeking the blessing of the Food and Drug Administration (FDA) for its DNA tests that allow people to peer into their genetic makeup. If the FDA grants approval, it would be a major step forward for the growing industry springing up around genetic testing. Every day, it seems, scientists are reporting new gene-based discoveries that allow them to better pinpoint the causes of disease. As technology becomes increasingly sophisticated, single-gene tests are being joined by the sort of genotyping technology used by 23andMe, which scans about 1 million points on the genome that are known to vary among humans. An even more complex technique, genomic sequencing, looks at about 3 billion points that cover a persons entire genetic code. 23andMe the name is a reference to the 23 pairs of chromosomes that comprise a persons genome intends to eventually offer sequencing, but the cost starts at around $4,000, which is considerably more expensive than the $299 the company charges for its testing. Not only is sequencing more … Continue reading →

NEWARK, Calif., Aug. 2, 2012 (GLOBE NEWSWIRE) -- StemCells, Inc. (STEM), a leading stem cell company developing and commercializing novel cell-based therapeutics and tools for use in stem cell-based research and drug discovery, today reported financial results for the second quarter ended June 30, 2012 and provided a business update. "We continue to be encouraged by our progress in developing cell-based therapeutics for a broad array of disorders affecting the central nervous system," said Martin McGlynn, President and CEO of StemCells, Inc. "We have already reported top line results from our Phase I PMD trial and I am pleased to report that the manuscript with the complete PMD trial data is under peer review for publication by a top tier journal. Our other clinical development efforts also continue to advance. We recently reported interim safety data from our chronic spinal cord injury trial, showing that our cells and the procedure have been well tolerated. We have also initiated a Phase I/II trial in dry AMD and look forward to enrolling our first patients in this study soon. Lastly, we recently reported preclinical data showing that our cells restored memory in two animal models relevant to Alzheimer's disease without having to … Continue reading →

(AP) Why does cancer come back after a tumor has been seemingly eradicated? Three new studies from American, Belgian, British and Dutch researchers may have an answer. Study: Stem cells boost brain tumor treatments The studies bolster a long-debated idea that tumors contain their own pool of stem cells that can multiply and keep fueling the cancer, seeding regrowth. If that's true, scientists will need to find a way to kill those cells, apart from how they target and attack the rest of the tumor. Stem cells in healthy tissues are known for their ability to produce any kind of cell. The new research deals with a different kind, cancer stem cells. Some researchers, but not all, believe they lurk as a persisting feature in tumors. Over the past decade, studies have found evidence for them in tumors like breast and colon cancers. But this research has largely depended on transplanting human cancer cells into mice that don't have immune systems, an artificial environment that raises questions about the relevance of the results. Now, three studies reported online Wednesday in the journals Nature and Science present evidence for cancer stem cells within the original tumors. Again, the research relies on … Continue reading →

ScienceDaily (Aug. 1, 2012) The junior high and high school years are emotionally challenging even under the best of circumstances, but for adolescents with autism spectrum disorders (ASD), that time can be particularly painful. Lacking the social skills that enable them to interact successfully with their peers, these students are often ostracized and even bullied by their classmates. However, a new study conducted by researchers at the Koegel Autism Center at UC Santa Barbara has found that by playing on their strengths -- high intelligence and very specific interests -- these adolescents are as capable as anyone else of forging strong friendships. In addition, the research findings demonstrate that the area of the brain that controls such social behavior is not as damaged in adolescents with ASD as was previously believed. The findings appear in a recent issue of the Journal of Positive Behavior Interventions. "The problem is that their restricted interests can dominate their lives and further push away people they'd like to get to know," said Robert Koegel, director of the Koegel Autism Center and the study's lead author. He is also a professor of counseling, clinical, and school psychology and of education in UCSB's Gevirtz Graduate School … Continue reading →

A new set of tests can help predict whether an individual patient will recover the use of their hand and arm after a stroke, report New Zealand researchers. Neuroscience Professor Winston Byblow, from the University of Auckland, and colleagues, report their findings in the current issue of the journal Brain. "This is the first demonstration that there is a combination of techniques that can be used to predict an individual patient's chance of recovery," Byblow tells the Australian Broadcasting Corporation. "Knowing the difference between who will make some recovery and who will make none is information that the therapists have been asking for a long time." After a stroke interrupts blood supply to the brain, many people are left unable to use their hand and arm properly, with some limbs being completely paralysed. But, says Byblow, it is very difficult to predict how well an individual will recover with the help of therapy, and who has been damaged beyond the point of no return. "The very challenging part is you can examine two patients within days of their stroke and they can look exactly the same, but one will make a perfect recovery and one will make no recovery," he … Continue reading →