ScienceDaily (June 5, 2012) Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome. The new approach is more scalable than other recently developed genetic screening tests and has the potential to reduce unnecessary amniocentesis or CVS. Two studies evaluating this approach are available online in advance of publication in the April issue of the American Journal of Obstetrics & Gynecology (AJOG). Diagnosis of fetal chromosomal abnormalities, or aneuploidies, relies on invasive testing by chorionic villous sampling or amniocentesis in pregnancies identified as high-risk. Although accurate, the tests are expensive and carry a risk of miscarriage. A technique known as massively parallel shotgun sequencing (MPSS) that analyzes cell-free DNA (cfDNA) from the mother's plasma for fetal conditions has been used to detect trisomy 21 (T21) pregnancies, those with an extra copy of chromosome 21 that leads to Down syndrome, and trisomy 18 (T18), the chromosomal defect underlying Edwards syndrome. MPSS accurately identifies the conditions by analyzing the entire genome, but it … Continue reading →

In a development scientists are calling a "tour de force," researchers have reconstructed the genome of a fetus using DNA samples from the parents. Don't miss these Health stories Amid ongoing reports of burning eyes and emergency injuries, the makers of a popular contact lens solution have failed to adequately warn consumers about the dangers of using the product improperly, a patient safety group says. Because their technique did not require an invasive test to take samples from the fetus itself, it's an important step toward what could become a low-risk way to identify genetic disorders early in development, experts say. Currently, "when genetic testing is done, it's done for just a few diseases," said lead author Dr. Jay Shendure, an associate professor of genome sciences at the University of Washington. A test based on the new technique could detect the roughly 3,000 conditions known as Mendelian disorders, each of which are the result of a single mutated gene, Shendure said. Huntington's disease, hemophilia and sickle-cell anemia fall into this category. While each of these disorders is relatively rare, together they affect about 1 percent of births, Shendure said. "This is amazing," said Dr. Ada Hamosh, director of the Institute … Continue reading →

By contrast, the scientists say their new test would identify far more conditions, caused by genetic errors. However, they warned it raised many ethical questions because the results could be used as a basis for abortion. These concerns were last night amplified by pro-life campaigners, who said widespread use of such a test would inevitably lead to more abortions. The American scientists were able to map the babys genetic code principally from tiny traces free-floating DNA, which makes its way into the mothers blood. Blood sample DNA from the mother was also studied as well as DNA extracted from the father's saliva. Fitting pieces of the genetic jigsaw together, scientists in the US were able to reconstruct the entire genetic code of an unborn baby boy. They were then able to see what spontaneous genetic mutations had arisen. Such natural mutations - called de novo mutations - are responsible for the majority of genetic defects. By checking their prediction of the babys genetic code with actual DNA taken after the birth, the team from the University of Washington in Seattle, found they were able to identify 39 of 44 such mutations in the child. De novo mutations are thought to … Continue reading →

New Test Uses Mom's Blood, Dad's Saliva to Determine Baby's Genetic Code June 6, 2012 -- Samples of blood and saliva from parents-to-be may help identify thousands of genetic disorders in fetuses soon after conception without invasive testing, researchers say. In a study published today in the journal Science Translational Medicine, researchers from the University of Washington report that they were able to determine the complete DNA sequence of two babies in the womb by analyzing blood samples from the mother and saliva samples from the father. Genetic predictions were confirmed once the babies were born by analyzing umbilical cord blood collected at birth. The test is not ready for use yet. Although cost and technological challenges remain, the research could lead to a simple non-invasive test to identify more than 3,000 disorders caused by single-gene mutations, says study co-author Jay Shendure, MD, PhD. "Many of these diseases are so rare that most people have never heard of them, but collectively they affect around 1% of births," Shendure tells WebMD. Only a few genetic disorders, including Down syndrome, are screened for during pregnancy. They use invasive and potentially risky procedures such as amniocentesis and chorionic villus sampling. The search is … Continue reading →

04-06-2012 21:49 In November 2007, gymnast Garrett Tanner had an accident while training that left him a quadriplegic. In 2010, he came to ChoiceCenter Leadership University (LV102) where he met fellow student Maynard Howe (LV100), Vice Chairman of Stemedica, a stem cell company. In May 2011, Garrett received his first stem cell treatment in Moscow. Stemedica donated the cells and ChoiceCenter students donated money for his rehabilitation therapy, transportation, food and housing. This video documents Garrett's progress as of May 2012. He will receive his second treatment later this summer. Read the rest here: ChoiceCenter's Garrett Tanner: 1 Year after Stem Cell Treatments 2012 - Video … Continue reading →

A local veterinary clinic recently added a cuttingedge treatment. Dr. Tina Gemeinhardt, owner of Tsawwassen Animal Hospital, is excited to be offering stem cell therapy to animals suffering from arthritis and joint issues. "I'm excited about trying to bring some relief to dogs that are living in pain," she said. The therapy, which uses stem cells harvested from fat that is surgically removed from the dog, is, in most cases, able to offer relief from the pain and stiffness associated with Gemeinhardt said once it's determined the therapy is the right course of treatment for an animal, body fat is surgically removed and sent to a lab in California where the stem cells are harvested. The harvested stem cells are then sent back to the vet clinic within 48 hours and injected into the joints in question. Gemeinhardt, who added the treatment to the clinic's list of services earlier this year, said it's not quite clear exactly how the stem cells work. "Stem cells seem to inherently know what needs to be done in that area," she said. The treatment is not a cure-all - the arthritis is still there but the symptoms are lessened - and it does not … Continue reading →