birth defects
For the first time, scientists have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a mendelian disorder.
Almost half of UK women could be suffering from a lack of vitamin A due to a previously undiscovered genetic variation, scientists at Newcastle University have found.
The team, led by Dr Georg Lietz, has shown that almost 50 per cent of women have a genetic variation which reduces their ability to produce sufficient amounts of vitamin A from beta-carotene.
Research into the controversial drug thalidomide reveals that the mechanism through which the drug causes limb defects is the same process which causes it to damage internal organs and other tissues.
Meiosis -- the pairing and recombination of chromosomes, followed by segregation of half to each egg or sperm cell -- is a major crossroads in all organisms reproducing sexually. Yet, how the cell precisely choreographs these chromosomal interactions is a long-standing question.
I had always though that refusal to get a flu vaccination was relatively harmless masochism. Refusal to vaccinate one's own children, on the other hand, should probably be prosecuted as child abuse, but at the least the negative consequences stay close to home.
Women who lived in villages sprayed with DDT to reduce malaria gave birth to 33 per cent more baby boys with urogenital birth defects (UGBD) between 2004 and 2006 than women in unsprayed villages, according to research published online by the UK-based urology journal BJUI.
Exposure to a combination of excess stress hormones and chemicals while in the womb could affect a man's fertility in later life, a study suggests.
Using medication that reduces or blocks the actions of folic acid during the first trimester of pregnancy (weeks 1-12), increases the risk that the growing baby will develop abnormalities.
OKLAHOMA CITY -- Researchers at the University of Oklahoma Health Sciences Center are helping to lead a massive international study on the possible genetic effects of radiation and cancer drug exposures on future generations.
Women who survived cancer in childhood or adolescence or women whose male partner is a childhood cancer survivor do not appear to have an increased risk of major complications during pregnancy, having babies with birth defects or infant deaths, according to two reports in the October issue of Archives of Pediatrics & Adolescent Medicine, one of the JAMA/Archives journals.
TALLAHASSEE, Fla. -- Using yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis, a cell biologist at The Florida State University found that when a key molecular player known as Pds5 goes missing, chromosomes fail to segregate and pair up properly, and birth defects such as Down syndrome can result.
Discovery of a deafness-causing gene defect in mice has helped identify a new protein that protects sensory cells in the ear, according to a study led by University of Iowa researchers. The findings, which also involved Kansas State University, appear in the Aug. 21 issue of the open-access journal PLoS Genetics.
Parents of healthy newborns often remark on the miracle of life. The joining of egg and sperm to create such delightful creatures can seem dazzlingly beautiful if the chromosome information from each parent has been translated properly into the embryo and newborn.
Park Ridge, Ill. (August 12, 2009) -- Research published online in the journal Epidemiology found that higher levels of total blood choline are associated with a 2.5-fold reduction in risk for neural tube birth defects (NTDs).(1) NTDs are birth defects of the brain and spinal cord, and the two most common NTDs are spina bifida and anencephaly.
In the September 1st issue of G&D, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases.
