general research
Study Links Birth Defects To Assisted Reproduction
by bethany on Nov.19, 2008, under general research
A recent study found that couples relying on medical technology to conceive have a substantially higher risk for some kinds of birth defects, according to a study published in the journal Human Reproduction.
A report from the federal Centers for Disease Control and Prevention found infants who were conceived with assisted reproduction have twice the average risk for cleft lips and heart defects and almost four times as many gastrointestinal defects.
Nevertheless, the overwhelming majority of babies born using medical procedures such as in vitro fertilization and intra-cytoplasmic sperm injection were healthy.
Experts stress that, though assisted reproduction has been linked to birth defects, it is possible that people relying on such procedures have chromosomal abnormalities responsible for their infertility as well as the birth defects.
Because carrying twins or triplets increases the risk of birth defects, the study only considered pregnancies resulting in a single birth. More than 14,000 women from 10 states took part in the study–281 of which used assisted reproduction.
Genetic Mutation Responsible For Scoliosis Variant
by admin on Nov.16, 2008, under general research
Research at the Medical Genetics Institute at Cedars-Sinai Medical Center identified a genetic mutation that causes a form of scoliosis. Known as TRPV4, the gene, when it mutates, can cause abnormal bone development. People inheriting the genetic condition have relatively short legs, arms, and fingers and toes, and have scoliosis that is generally centered around the lumbar vertebrae. The study is reportedly the first to identify the mechanism behind this form of scoliosis.
The researchers believe that mutations of the gene lead to increased calcium deposition in the cells of the skeleton as it develops. The use of calcium channel inhibitors could be potentially used to treat scoliosis in the future.
New Hope for Rheumatoid Arthritis
by andreas on Nov.15, 2008, under general research
Modifying a molecule known as Foxp3 could help rheumatoid-arthritis patients.
Rheumatoid arthritis is a painful, inflammatory condition that is the result of the immune system sabotaging itself. It turns out that a molecule, known as Foxp3 is important role in regulating the immune system. People without the molecule or with a abnormal version of it, suffer from a dysfunctional immune system.
Researchers at the Medical Research Council’s Laboratory of Molecular Biology have genetically engineered a drug-inducible form of Foxp3, allowing them to convert immune cells into regulatory cells that can suppress the immune response.
The researchers generated a modified form of Foxp3 that can be introduced into immune cells using genetic engineering and then activated by an injection, according to group leader Dr. Alexander Betz. “When administered to and activated in animal models of arthritis, the modified cells inhibit or even reverse the disease process.”Betz adds that “if Foxp3 functions as a key developmental switch in human immune cells, there is potential for a new avenue of therapy development that could transform arthritis treatment.”
Card-Swiping For Medical Tests
by andreas on Oct.30, 2008, under general research
Marc Porter and Michael Granger sit next to the test station that uses card-swiping technology to test blood, saliva, urine or other fluids for disease-related substances. Image Courtesy of Eric Dufek, University of Utah
Researchers at the University of Utah have created a sensitive prototype device that could be used to test for up to hundreds of diseases simultaneously using a credit card-swipe machine to scan a card loaded with microscopic body-fluid samples.
The device works uses the principle of giant magnetoresistance, which is also utilized to read data from computer hard drives or portable digital music players.
“Think how fast your PC reads data on a hard drive, and imagine using the same technology to monitor your health,” says Marc Porter, a Utah Science, Technology and Research professor of chemistry, chemical engineering and bioengineering.
“You can envision this as a wellness check in which a patient sample – blood, urine, saliva – is spotted on a sample stick or card, scanned, and then the readout indicates your state of well-being,” says USTAR research scientist Michael Granger, a co-author of the research. “We have a great sensor able to look for many disease markers.”
More information on this research is available here.
New Down Syndrom Screening MethodTo Be Tested
by admin on Oct.28, 2008, under general research
DNA
According to Market Watch, San Diego-based company Sequenom has launched an independent multi-center observational study to test the performance of one of its products to screen for Down Syndrom.
According to the company’s press release:
The 16-month RNA Study will evaluate the SEQureDx T21 technology performance by obtaining blood samples from up to 10,000 pregnant women in high prevalence pregnancies late in the first trimester to be confirmed by chorionic villus sampling (CVS) or early second trimester to be confirmed by amniocentesis. The study will include 30 worldwide clinical sites and three independent laboratory sites. The study…is aimed at producing sufficient data for submission to a peer-reviewed journal for publication.
Current screening technology for Down syndrome includes serum marker analysis, such as the quad screen and first trimester combined screening that combines serum marker testing with nuchal translucency. These approaches have detection or sensitivity rates of 80% and 85% to 87%, respectively, which means that between 13% and 20% of all Down syndrome-affected pregnancies will not be identified as needing further evaluation. In addition, these approaches also have false positive rates of between 5% to 10%, resulting in hundreds of unnecessary, highly invasive CVS or amniocentesis procedures. These invasive procedures, which are used to determine whether the fetus has Down syndrome, carry a risk of miscarriage in the range of one-in-100 to one-in-300.
