Author Archive
Researchers Sequence Woolly-Mammoth Genome
by admin on Nov.20, 2008, under general research
OK, so this is a little off topic, but it does show how far researchers have come in sequencing genomes. Scientists at Penn State reported the genome-wide sequence of the woolly mammoth, an extinct elephant species adapted to living in cold environments. In all, four billion DNA bases were sequenced.
Previous studies on extinct organisms have generated only small amounts of data,” explains Stephan C. Schuster, Penn State professor of biochemistry and molecular biology. “Our dataset is 100 times more extensive than any other published dataset for an extinct species, demonstrating that ancient DNA studies can be brought up to the same level as modern genome projects.”
“Only after the genome of the African elephant has been completed will we be able to make a final assessment about how much of the full woolly-mammoth genome we have sequenced,” Miller says.
The team sequenced the mammoth’s nuclear genome using DNA from the hairs of a mammoth body buried in the Siberian permafrost for 20,000 years and a second mammoth mummy that is at least 60,000 years old.
Source: http://www.physorg.com
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.
Study Suggests Agressive Teens Derive Pleasure from Bullying
by admin on Nov.08, 2008, under brain research
Brain scans of people with conduct disorder demonstrate heightened activity in the pleasure center of the brain when they were shown images of a person in pain. Image courtesy of University of Chicago
A recent study from the University of Chicago found that when aggressive teenage boys view a video clip of a person hurting someone else, the brain’s pleasure center, the ventral striatum, demonstrated heightened activity in functional MRI scans. When a less-aggressive teen viewed the same clip, the brain did not light up in the same way. Instead, the subjects with less-aggressive behavior exhibited stimulation of the medial prefrontal cortex, which is center of the brain that is involved in self-regulation.
French Scientists Develop Artificial Heart
by admin on Oct.28, 2008, under cardiology
A photo of the artificial heart.
A team of researchers, led by Dr. Alain Carpentier of the Pierre & Marie Curie University in Paris, have reportedly developed the most-advanced artificial human heart even developed. Said to beat almost like an actual heart, the device provides hope to the thousands of patients in need of a heart transplant or other treatment.
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.
