Category: the American Journal of Human Genetics
A genetic mutation found in four children born with multiple abnormalities may provide insight into potential treatments for newborn lung distress and chronic obstructive pulmonary disease (COPD).
The children were born with abnormally developed lungs, gastrointestinal and urinary systems, skin, skull, bones and muscles.
HANOVER, NH -- Two recent studies by Dartmouth researchers use individual genetic data to reveal the powers and limits of our current understanding of how the genome influences human health and what genes can reveal about the ancestry of the people of New Hampshire.
LA JOLLA, CA -- September 1, 2009 ?A team led by scientists from The Scripps Research Institute has discovered a genetic cause of progressive hearing loss. The findings will help scientists better understand the nature of age-related decline in hearing and may lead to new therapies to prevent or treat the condition.
New research reveals that a simple laboratory assay detects a genetic variation in host response to bacterial infection that is associated with an increased susceptibility for inflammatory disease.
HOUSTON (June 4, 2009) -- A rare, deadly developmental disorder of the lungs called alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) that usually kills the infants born with it within the first month of life results from deletions or mutations in the FOXF1 transcription factor gene, said a consortium of researchers led by Baylor College of Medicine (
Researchers at the University of Leeds have devised a more accurate method of dating ancient human migration -- even when no corroborating archaeological evidence exists.
New research provides exciting genetic insight into a rare syndrome that first appeared in the medical literature in the mid 1800s with the case of Julia Pastrana, the world's most notorious bearded lady.
Through sophisticated statistical analyses and advanced computer simulations, researchers are learning more about the genomic patterns of human population structure around the world.
Revealing such patterns provides insights into the history of human evolution, the predominant evolutionary forces that shaped local populations, and the relationships among populations.
Discovering the different genes that contribute to a complex disease is like searching in the proverbial haystack for an unknown number of needles--some much smaller than others, often blending into the background, and many of them widely separated from each other. But if some needles are linked to each other by fine threads, you might pull out clumps of them together.
There's a lot said about a woman's ticking biological clock, but male biology doesn't age as gracefully as men might like to think. By analyzing sperm from men of various ages, scientists from the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins have discovered that older men's sperm is more likely to contain disease-causing genetic mutations that also seem to increase a sperm's chances of fertilizing an egg. The findings, which appear in the advance online section of the American Journal of Human Genetics, emerged during efforts to explain why a rare genetic disease is more common in children born to older fathers.
A population of Jewish people known as the Ashkenazi Jews have an unusually high risk of several genetic diseases, and up until now, no one has understood why. Was it random chance that made mutations so common or did evolution play a role in keeping mutations around? The answer to this question, said researchers at Stanford University Medical Center, appears to be chance. Their findings appear in the March online issue of the American Journal of Human Genetics and in the journal's April print edition.
Researchers have developed a new statistical genetic "fishing net" that they have cast into a sea of complex genetic data on autistic children to harvest an elusive autism gene.
Moreover, the researchers said that the success of the approach will be broadly applicable to studying genetic risk factors for other complex genetic diseases, such as hypertension, diabetes and multiple sclerosis. In this case, the gene, which encodes part of a brain neurotransmitter docking station called the gamma-Aminobutyric Acid Receptor beta3-subunit (GABRB3), has been implicated in autism previously, but never positively linked to the disease. Their findings will be published in the March 2003 issue of the American Journal of Human Genetics.
Researchers in Los Angeles have localized a region on chromosome 16 that is likely to contain a risk gene for Attention Deficit Hyperactivity Disorder, the most prevalent childhood-onset psychiatric disorder. The scientists say their finding suggest that the suspected risk gene may contribute as much as 30 percent of the underlying genetic cause of ADHD and may also be involved in a separate childhood onset disorder, autism.
