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1 out of 100 benefit from whole genome sequencing

Perhaps. The New York Times has a piece out reviewing the vogue for sequencing the genomes of children who have mysterious diseases. The numbers are what matters here I think: A few years ago, this sort of test was so difficult and expensive that it was generally only available to participants in research projects like those sponsored by the National Institutes of Health. But the price has plunged in just a few years from tens of thousands of dol Read more...

Posted
February 19th, 2013

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Learning the alphabet of gene control

Nature Scientists at Karolinska Institutet in Sweden have made a large step towards the understanding of how human genes are regulated. In a new study, published in the journal Cell, they identified the DNA sequences that bind to over four hundred proteins that control expression of genes. This knowledge is required for understanding of how differences in genomes of individuals affect their risk to develop disease. After the human genome was sequ Read more...

Posted
January 19th, 2013

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Human-on-human sex

Dienekes tips me off to the fact that the long-awaited Reich lab paper on Neandertal admixture dating has finally been put on arXiv! The date of interbreeding between Neandertals and modern humans: Comparisons of DNA sequences between Neandertals and present-day humans have shown that Neandertals share more genetic variants with non-Africans than with Africans. This could be due to interbreeding between Neandertals and modern humans when the two Read more...

Posted
August 13th, 2012

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24 new species of lizards discovered on Caribbean islands are close to extinction

Nature Related images(click to enlarge) Karl Questel, courtesy of Penn State University Joseph Burgess, courtesy of Penn State University Joseph Burgess, courtesy of Penn State University In a single new scientific publication, 24 new species of lizards known as skinks, all from islands in the Caribbean, have been discovered and scientifically named. According to Blair Hedges, professor of biology at Penn State University and the leader of Read more...

Posted
May 1st, 2012

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Aging of the brain: Genetic modifications now identified

Shrinkage of the hippocampus occurs with age and is caused by the cumulative effect of various factors. Hippocampal atrophy is a recognized biological marker of Alzheimer’s disease, so it is vital that researchers determine the cause of this process. An international study under the French leadership of Christophe Tzourio looked for genetic variabilities linked to the shrinkage of the hippocampus. To do this, the genomes and MRI scan dat Read more...

Posted
April 18th, 2012

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‘Junk DNA’ defines differences between humans and chimps

Nature Related images(click to enlarge) None Georgia Institute of Technology For years, scientists believed the vast phenotypic differences between humans and chimpanzees would be easily explained — the two species must have significantly different genetic makeups. However, when their genomes were later sequenced, researchers were surprised to learn that the DNA sequences of human and chimpanzee genes are nearly identical. What then is Read more...

Posted
October 26th, 2011

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New genetic risk factor for sudden cardiac death

The new finding flags a DNA sequence called the BAZ2B locus, a region along the genome containing three genes previously unknown to play any role in cardiac biology, according to a report published online June 30 in PLoS Genetics. Understanding how genetic variation in this region plays a role in the risk of SCD could eventually help those at risk take steps to prevent it, the researchers say, although they emphasize that a great deal of follow- Read more...

Posted
July 12th, 2011

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Improving DNA sequencing: Sponge-like biosensor crams enormous power into tiny space

This figure shows how the sensor works. Light comes into the sensor at a particular angle. Part of the light is then reflected out (R), while part of it is… Vanderbilt University engineers have created a “spongy” silicon biosensor that shows promise not only for medical diagnostics, but also for the detection of dangerous toxins and other tiny molecules in the environment. This innovation was originally designed to detect the p Read more...

Posted
May 27th, 2011

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New test for ‘pluripotent’ stem cells

The study was published in an online version of Nature Methods on March 6, 2011. “Many scientists are unhappy with the current gold standard for testing for pluripotency, called the teratoma assay,” said Scripps Research molecular biologist Jeanne Loring, principal investigator of the study. “The teratoma assay requires animal testing and a time span of six to eight weeks before scientists can prove that they have a pluripotent Read more...

Posted
March 7th, 2011

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New approach for identifying genetic markers for common diseases

In our modern genetic age, the entire DNA sequences, or “genomes,” of humans and thousands of other animals, plants, and microbial life forms have been completely decoded and are publicly available to scientists worldwide. One of the hopes now that this data is available is that scientists will be able to find genetic markers of diseases — particular bits of DNA that would identify someone as being at risk for developing a part Read more...

Posted
October 31st, 2010

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