-
Speaking to the BBC last week, Graham Hughes, who first described antiphospholipid syndrome in 1983, urged for more efforts to raise awareness of this disorder, which often remains undiagnosed and untreated with catastrophic consequences, such as multiple miscarriages, or stroke at a young age.
The Lancet (Genetics e Rare diseases) - Tue, 9 March 2010
http://www.thelancet.com
-
The U.S. Food and Drug Administration has approved velaglucerase alfa for injection (VPRIV) to treat children and adults with a form of the rare genetic disorder Gaucher disease.
Food and Drug Administration (Genetics e Rare diseases) - Mon, 1 March 2010
http://www.fda.gov
-
Rearchers at the Swedish medical university Karolinska Institutet have discovered a protein that is crucial in mediating the anti-inflammatory actions of nuclear lipid receptors.
Karolinska Institutet (Genetics e Rare diseases) - Mon, 22 February 2010
http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en
-
An international team of researchers has found an explanation for why some people seem to be more responsive than others to regular endurance exercise - which, in turn, might increase their chances of having a long and healthy life. The cause lies in their DNA, where the scientists have been able to identify 11 gene variants that are particularly important in the maximisation of the body's aerobic capacity.
Karolinska Institutet (Genetics e Rare diseases) - Fri, 5 February 2010
http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en
-
Williams-Beuren syndrome, a multisystem disorder caused by the deletion of a chromosome region of 1.5 million to 1.8 million base pairs containing 26 to 28 genes, is a disorder of microdeletion or contiguous gene deletion. This review covers current understanding of the biology of this disorder.
New England Journal of Medicine (Genetics e Rare diseases) - Fri, 22 January 2010
http://www.nejm.org
-
On rare occasions, an infant is born with outward appearance of a female but the XY chromosomes of a male. If the child has a normal Y chromosome -- the chromosome responsible for testicular development -- the condition is known as androgen insensitivity syndrome. Experts estimate such births occur in about one in 20,000 infants. Other children are born with a partial form of the condition that can affect their genitalia and/or fertility, but how many is not known. The cause is a wide range of androgen receptor (AR) mutations that fail to perceive the presence of the male hormones testosterone and dihydrotestosterone to differing degrees. How to overcome the problem remained a mystery until Baylor College of Medicine and Michael E. DeBakey Veterans Affairs Medical Center experts used a high throughput, automated microscopy technique called high content analysis to solve the puzzle.
Baylor College of Medicine (Genetics e Rare diseases) - Fri, 11 December 2009
http://www.bcm.edu
-
The addition of a “genetic sonogram” maximizes the accuracy of non-invasive testing for Down syndrome, said a Baylor College of Medicine researcher who was lead author of a landmark study in the current issue of Obstetrics and Gynecology . “We wanted to be able to definitively describe the detection and accuracy of noninvasive prenatal screening for the detection of Down syndrome,” said Dr. Kjersti Aagaard-Tillery , assistant professor of obstetrics and gynecology at BCM and the corresponding author of the report. “Using our data generated in the most comprehensive study performed to date (the FaSTER trial), we demonstrated that the addition of a genetic sonogram to all modes of screening in pregnancy allows for optimal noninvasive prenatal detection of Down syndrome.”
Baylor College of Medicine (Genetics e Rare diseases) - Fri, 27 November 2009
http://www.bcm.edu
-
Scientists from the Oregon Health and Sciences University have developed a technique in Rhesus macaques that may one day prevent the inheritance of disease-related mitochondrial gene mutations from mothers to their children.
Journal of the American Medical Association (Genetics e Rare diseases) - Fri, 9 October 2009
http://jama.ama-assn.org/
-
In the seemingly simple world of the social amoeba, some cheat, giving advantage to their genetic kin. Why, then, do they not take over the population? One possibility, said collaborating researchers from Baylor College of Medicine and Rice University, are mutations that confer the ability to resist cheaters. They describe this population in a report that goes online today in the journal Nature .
Baylor College of Medicine (Genetics e Rare diseases) - Mon, 5 October 2009
http://www.bcm.edu
-
Johns Hopkins Medicine, a co-host of the 2009 World Stem Cell Summit, is telling a comprehensive stem cell story via a new interactive Web site http://www.hopkinsmedicine.org/stem_cell_research/ on which its researchers and clinicians collectively describe their explorations into stem cell biology and engineering.
Johns Hopkins Hospital (Genetics e Rare diseases) - Mon, 28 September 2009
http://www.hopkinshospital.org