cleft palate
An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.
A system of opposing genetic forces determines why mammals develop a single row of teeth, while sharks sport several, according to a study published today in the journal Science. When completely understood, the genetic program described in the study may help guide efforts to re-grow missing teeth and prevent cleft palate, one of the most common birth defects.
A research team led by Johns Hopkins doctors has defined the physical traits and genetic basis of a new aortic aneurysm syndrome that is extremely aggressive and can cause death in early childhood. Early diagnosis of the syndrome and rapid surgical repair of the swollen aorta can save lives, the researchers report in the Jan. 30 advance online section of Nature Genetics.
Based on a review of medical records and experience with new patients, the Johns Hopkins team discovered that people with wide-set eyes, a cleft palate or split uvula (the tissue that hangs down in the back of the throat), and a torturous arrangement of the body's blood vessels also have aggressive swelling of the aorta, the body's biggest blood vessel. In these patients, the aorta breaks at a much smaller size than it does in people with Marfan syndrome or other causes of aneurysm, making identifying these patients critical, the researchers report.
An international team of researchers has identified a gene variant that is a major contributor to oral clefts and triples the risk of recurrence in affected families, it was reported today in The New England Journal of Medicine. ''Cleft lip and cleft palate are among the most common birth defects in the United States,'' says Nancy S. Green, M.D., medical director of the March of Dimes, which helped fund the study. ''This new finding brings us closer to understanding the multiple genetic factors underlying these very serious birth defects, with probable environmental effects.''
