Clinical Research

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…

This week, for the first time in humans, a heart failure patient received adult stem cells – taken from his own adipose (fat) tissue – which were processed and injected directly into the heart muscle with a special catheter. Francisco Fernandez-Avilés, M.D. performed the procedure in Madrid. The Texas Heart Institute at St. Luke’s Episcopal Hospital is leading the collaborative clinical trial which will involve 30 patients. The trial site for the study is Hospital General Universitario Gregorio Marañón in Madrid, Spain. Dr. Fernandez-Avilés, Professor of Cardiovascular Medicine and Chief of…

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: It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932. The build-up of glycogen…

I 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: An international committee of human geneticists recently voted to change the names of a few human genes because the current, sometimes flamboyant names—like Sonic hedgehog—are either offensive or embarrassing... The vote was conducted by the HUGO Gene Nomenclature Committee, which establishes naming protocols for human genes. The gene map locus is 7q 36 . Sonic Hedgehog regulates vertebrate…

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: Published, peer-reviewed research and their own research. Their expert opinion on actual scientific debates - think review articles. Descriptions of natural phenomena (e.g., why slugs dissolve when you put salt on them, or what causes sun flares;…

McMaster scientists are very close to defining small molecule drugs that should be able to redirect the huntingtin protein from accumulating in the wrong place within brain cells, which could potentially translate to a therapy for Huntington's Disease (HD). Three proteins viewed in a live cell. (Image courtesy of McMaster University) There is currently no way to stop or reverse the progression of Huntington's Disease, which affects one in 10,000 Americans. It is a progressive, and eventually fatal, genetic neurological disease. Associate professor Ray Truant's lab has discovered molecular '…

By LIDIA WASOWICZ SAN FRANCISCO, Jan. 29 (UPI) -- Brain researchers searching for clues to autism have zeroed in on regions associated with recognizing and reading faces. As early as 1947, scientific findings began hinting at neural regions that specialize in face processing. The evidence came from studies of brain-damaged patients suffering from prosopagnosia, the loss of the ability to recognize a face, and from research with macaque monkeys. In the late 1980s, numerous studies pointed to certain "face cells" being tuned to specific facial features such as expression, identity, viewpoint…

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. The research is published in the…