(Medical Xpress)—One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by The University of ...
Jun 7, 2013
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Before he was discharged from the hospital, baby Gaël Villegas received the standard panel of newborn screenings to check for genetic and metabolic diseases and hearing. The results showed a healthy baby.
Jun 4, 2013
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A study by Jeffrey P. Brosco, M.D., Ph.D., of the University of Miami, Florida, and colleagues examines the relationship between medical interventions in early childhood and the increasing prevalence of later intellectual ...
Apr 29, 2013
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(Medical Xpress)—Michael Gelb and František Tureček have worked more than a decade to devise and implement newborn screening for some debilitating, often-fatal conditions that show up in the first year to several years ...
Apr 2, 2013
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Contrary to current belief, routine newborn screening improves the detection of the lethal form of congenital adrenal hyperplasia (CAH) in girls as well as boys, saving lives in both sexes, according to a unique study of ...
Feb 25, 2013
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(HealthDay)— New guidelines on testing newborns and children for genetic diseases recommend screening for childhood diseases but note that testing for diseases that strike in adulthood may not be worthwhile.
Feb 21, 2013
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On April 14, 2003 a map of the human genome was completed, ushering in a new era of genetics in medicine with applications that include genetic testing; newborn screening; susceptibility to diseases such as cancer, cardiovascular ...
Feb 1, 2013
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A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Dec 20, 2012
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An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic ...
Nov 18, 2012
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The tremendous potential public health benefits of research with blood samples left over after routine newborn screening must not be lost amidst controversy and litigation, say medical and bioethics experts in a commentary ...
Nov 7, 2012
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