Clinical Research

For women older than 35, amniocentesis is usually recommended. But the Society of Obstetricians and Gynaecologists of Canada (SOGC) is now presenting a new guideline system:

All women should have access to blood tests and ultrasounds and that the results of such measures should guide the decision for more invasive screening, such as amniocentesis.


A public photo from Flickr

Two biologists at Penn State have discovered a master regulator that controls metabolic responses to a deficiency of essential amino acids in the diet. They also discovered that this regulatory substance, an enzyme named GCN2 eIF2alpha kinase, has an unexpectedly profound impact on fat metabolism. "Some results of our experiments suggest interventions that might help treat obesity, prevent Type II diabetes and heart attacks, or ameliorate protein malnutrition," said Douglas Cavener, professor and head of the Department of Biology, who led the research along with Feifan Guo, a research assistant professor.

As I plan to become a clinical geneticist, I should write more often about genetic conditions. But I don't want to duplicate the articles of Wikipedia, my aim is to provide useful sources of information. Pompe disease is a rare disorder caused by the deficiency of the acid alpha-glucosidase enzyme. It's inherited in an autosomal recessive manner. The patients can't break down glycogen. According to the Wiki article:

sonichedgehog.jpgI planned to make a good start for Gene Genie but my first gene related post is about a farewell. Sonic Hedgehog, one of the most famous genes, will lose his name. According to the Discover article:

From tomorrow until the end of the week, I'm going to post just strictly about science, I mean at least once per day on science and only science. No popular medicine, no medical imaging, no fun. I'm really curious about the number of readers of the next few days. :)

Bloggers who self-identify as scientists and science writers should post on:

Researchers at the University of Alberta, in Edmonton, Canada, have announced the completion of the first draft of the human metabolome, the chemical equivalent of the human genome.

The metabolome is the complete complement of all small molecule chemicals (metabolites) found in or produced by an organism. By analogy, if the genome represents the blueprint of life, the metabolome represents the ingredients of life.

The scientists have catalogued and characterized 2,500 metabolites, 1,200 drugs and 3,500 food components that can be found in the human body.