Researchers at Cardiff University and Cardiff and Vale University Health Board have developed a more reliable method of screening for Duchenne muscular dystrophy (DMD) in newborn babies.
Aug 11, 2017
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An international research group of 32 experts from nine countries has updated the guidelines for diagnosing the genetic disease cystic fibrosis. The researchers expect that these guidelines will provide better direction for ...
Jan 31, 2017
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A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by ...
Jan 30, 2017
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The German Institute for Quality and Efficiency in Health Care (IQWiG) assessed the benefit of newborn screening for severe combined immunodeficiency (SCID). Without treatment most young children with SCID die within 1 to ...
Jan 30, 2017
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When you have a baby, a nurse or a phlebotomist performs a heel stick to take a few drops of blood from your infant and sends it off to a state lab for a battery of tests. Most of the time, you never hear about the results ...
Jan 17, 2017
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Newborn screening is considered to be a "baby's first test." Within the first two days of birth, a baby's heel is pricked to obtain a small amount of blood that is screened for up to dozens of genetic diseases, especially ...
Sep 8, 2016
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What if a blood spot from a newborn could identify vulnerable children at birth? One of the biggest vulnerabilities is being born premature. Canadian researchers are hoping that metabolic markers found in blood spots routinely ...
Sep 6, 2016
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A study by researchers at Children's Hospital Los Angeles (CHLA), Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second ...
Jul 25, 2016
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Two-day-old Ellie Bailey squirms in a hospital bassinet and cries as her tiny left heel is squeezed and then pricked with a needle to draw a blood sample. An Indianapolis hospital technician quickly saturates six circles ...
May 13, 2016
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A new study led by a team from the Research Institute of the McGill University Health Centre (RI-MUHC) and Cystic Fibrosis Canada reinforces the benefits of newborn screening for cystic fibrosis (CF) patients. Despite the ...
May 5, 2016
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