A new study of the protein-coding genes in 100 breast cancer tumors revealed vast differences among the cancers and highlights how complicated the disease really is, researchers said Wednesday. A sobering perspective on the complexity and diversity of the disease is emerging, they wrote in the online edition of the journal Nature (subscription required), which is publishing a series of studies of the genetic changes in breast cancer. The scientists, led by Michael Stratton at the Wellcome Trust Sanger Institute in Hinxton, England, found 73 different combinations of disease-causing mutations in the tumors, each involving up to six different genes from a set of 40 driver genes. Seven of the 40 individual driver genes were mutated in more than 10% of cases, but 33 others that were less common also contributed to the development of the cancers, the team reported. In 28 cases, a single mutation was enough to cause disease. The researchers identified nine new genes that caused the cancers, and also found mutations in genes that were already known to cause breast and other cancers. Discovering that a single disease breast cancer can appear in so many different guises means that developing targeted therapies tailored to a patients … Continue reading →

SAN DIEGO, May 18, 2012 /PRNewswire/ -- Sequenom, Inc. (SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that a new publication from the large Women & Infants multi-center clinical study on the Sequenom Center for Molecular Medicine's (Sequenom CMM) MaterniT21 PLUS laboratory-developed test (LDT) has been published online in the peer-reviewed journal, Prenatal Diagnosis. Along with this week's publication, the Company announces that as of the week ended May 12, 2012, Sequenom CMM has processed more than 10,000 commercial MaterniT21 PLUS test samples in 2012. The publication addresses the capability of the MaterniT21 PLUS LDT to accurately detect the presence of certain fetal trisomies in pregnant women carrying twins or triplets. The paper will appear in the journal's May issue and the full abstract can be found online at: http://onlinelibrary.wiley.com/doi/10.1002/pd.3892/abstract. "The underlying biology and these positive study data provide evidence that this type of DNA-testing can be reliably employed as a clinical management option for women expecting twins or triplets who are at increased risk for fetal chromosome anomalies," said Allan Bombard, M.D., Laboratory Director for Sequenom Center for Molecular Medicine. The published results are derived from the large international, multi-center study conducted at 27 prenatal … Continue reading →

Public release date: 17-May-2012 [ | E-mail | Share ] Contact: Jane E. Rubinstein jrubinstein@rubenstein.com 212-843-8287 IntegraGen Toronto, CANADA (May 17, 2012) By focusing on the identification of common genetic variants, researchers have identified 57 single nucleotide polymorphisms (SNPs) that predictwith a high degree of certainty--the risk that siblings of children with Autism Spectrum Disorder (ASD) will also develop the condition. The findings were presented at the International Meeting for Autism Research. ASD is among the most common form of severe developmental disability with prevalence rates up to 1 in 88 children. Boys are greater than four times more likely to be diagnosed with ASD, while recurrence risks for the sibling of a child with ASD are estimated at 18.7%. Since multiple studies have shown that early assessment and intervention offer significantly improved long-term outcomes, early identification of children at risk of ASD has become a key goal. Though many recent studies demonstrate that autism has a genetic basis, the inheritance pattern of ASD in most families is highly complex. While genetic testing for autism has been limited to the identification of copy number variants (CNVs), autism-associated CNVs are found only in approximately 10% of children with ASD. Researchers seeking … Continue reading →

Public release date: 17-May-2012 [ | E-mail | Share ] Contact: Raymond MacDougall macdougallr@mail.nih.gov 301-402-0911 NIH/National Human Genome Research Institute People have increasing opportunities to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up or diminish test recipients' demand for potentially costly follow-up health services, according to a study performed by researchers at the National Institutes of Health and colleagues at other institutions. The study in the May 17, 2012 early online issue of Genetics in Medicine was done by investigators with the Multiplex Initiative, a multi-center collaborative initiative involving investigators from the National Institutes of Health's Intramural Research Program, Group Health Cooperative in Seattle, and the Henry Ford Health System in Detroit. The tests are available from a growing number of commercial producers, and health care providers have been uncertain whether people who received information only about risk would follow up by demanding diagnostic testing to monitor for predicted illnesses. The study is the first to use electronic health records -- rather than self-reported behavior -- to measure the impact of genetic testing on the subsequent consumption of health services by commercially insured, healthy adults. … Continue reading →

Medical experts feared personal genetic test results might drive overuse of expensive medical care The study in the May 17, 2012 early online issue of Genetics in Medicine was done by investigators with the Multiplex Initiative, a multi-center collaborative initiative involving investigators from the National Institutes of Health's Intramural Research Program, Group Health Cooperative in Seattle, and the Henry Ford Health System in Detroit. The tests are available from a growing number of commercial producers, and health care providers have been uncertain whether people who received information only about risk would follow up by demanding diagnostic testing to monitor for predicted illnesses. The study is the first to use electronic health records -- rather than self-reported behavior -- to measure the impact of genetic testing on the subsequent consumption of health services by commercially insured, healthy adults. Self reports, which can be affected by memory lapses and other problems, tend to be less accurate. "We need to understand the impact of genomic discoveries on the health care system if these powerful technologies are going to improve human health," said Dan Kastner, M.D., Ph.D., scientific director and head of the National Human Genome Research Institute's (NHGRI) Division of Intramural Research. "We … Continue reading →

Public release date: 17-May-2012 [ | E-mail | Share ] Contact: Rebecca Hughes hughes.r@ghc.org 206-287-2055 Group Health Research Institute SEATTLEPeople have more and more chances to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up or diminishtest recipients' demand for potentially costly follow-up health services, according to a new study in the May 17, 2012 early online issue of Genetics in Medicine. The study was done by researchers with the Multiplex Initiative, a multi-center collaborative initiative involving investigators from the National Institutes of Health's Intramural Research Program, Group Health Cooperative in Seattle, and the Henry Ford Health System in Detroit. The tests are available from a growing number of commercial producers, and health care providers have been uncertain whether people who received information only about risk would follow up by demanding diagnostic testing to check for predicted illnesses. The study is the first to use electronic health recordsrather than self-reported behaviorto measure the impact of genetic testing on the subsequent use of health services by commercially insured, healthy adults. Self-reports, which can be affected by memory lapses and other problems, tend to be less accurate. "Our … Continue reading →

Michael J. Fox, whose turn from Parkinsons disease patient to scientific crusader made him one of the countrys most visible advocates for stem cell research, now believes the controversial therapy may not ultimately yield a cure for his disease, he told ABCs Diane Sawyer in an exclusive interview. There have been problems along the way, Fox said of stem cell studies, for which he has long advocated. Instead, he said, new drug therapies are showing real promise and are closer today to providing a cure for Parkinsons disease, a degenerative illness that over time causes the body to become rigid and the brain to shut down. Stem cells are an avenue of research that weve pursued and continue to pursue but its part of a broad portfolio of things that we look at. There have been some issues with stem cells, some problems along the way, said Fox, who suffers from the diseases telltale tics and tremors. Its not so much that [stem cell research has] diminished in its prospects for breakthroughs as much as its the other avenues of research have grown and multiplied and become as much or more promising. So, an answer may come from stem cell … Continue reading →

Osiris Therapeutics Inc said on Thursday that Canadian health regulators have approved its treatment for acute graft-versus host disease in children, making it the first stem cell drug to be approved for a systemic disease anywhere in the world. Osiris shares rose 14 percent to $6.00 in extended trading after the news was announced. Graft versus host disease (GvHD) is a potentially deadly complication from a bone marrow transplant, when newly implanted cells attack the patient's body. Symptoms range from abdominal pain and skin rash to hair loss, hepatitis, lung and digestive tract disorders, jaundice and vomiting. The disease kills up to 80 percent of children affected, Osiris said. To date there have been no approved treatments for the disease. Canadian authorities approved the therapy, Prochymal, for use in children who have failed to respond to steroids. Prochymal was approved with the condition that Osiris carry out further testing after it reaches the market. C. Randal Mills, the company's chief executive, said in an interview that could take three to four years. Some investment analysts have been skeptical about Prochymal's future. In 2009, two late-stage clinical trials failed to show the drug was more effective overall than a placebo in … Continue reading →

IRVINE, Calif.--(BUSINESS WIRE)-- California Stem Cell, Inc. (CSC) announced today that well-known stem cell & regenerative medicine industry veteran Gregory A. Bonfiglio, J.D. has joined its Board of Directors. Gregory Bonfiglio has over 25 years of experience working with technology companies, and was an early investor in the stem cell industry. He is Managing Partner of Proteus Venture Partners, an investment & advisory firm he founded in early 2006 to provide venture funding and strategic advisory services in the stem cell & regenerative medicine space. Mr. Bonfiglio is on the Boards of VistaGen Therapeutics and StemCyte, Inc.; he is the Chairman of the Board of the Centre for Commercialization of Regenerative Medicine (RM Translation Center in Toronto, Canada). In addition, Mr. Bonfiglio sits on the Advisory Board and Finance Committee of the International Society for Stem Cell Research (ISSCR); he is on the Commercialization Committee of the International Society for Cellular Therapy (ISCT). Mr. Bonfiglio brings to CSC an extensive background in strategic consulting, having held partnership positions with various legal and venture firms, and having successfully led a team that took pioneering stem cell company Advanced Cell Technology public in early 2005. Were thrilled to welcome to our board … Continue reading →