Soon after birth, a baby's blood is sampled and tested for a number of rare inherited conditions, such as cystic fibrosis and sickle cell anemia. But no such test has existed for a progressive neurodegenerative disease, called ...
May 4, 2016
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Maverick Coltrin entered the world a seemingly healthy 8-pound boy. But within a week, he was having seizures that doctors could neither explain nor control. They warned that he would probably die within a few months.
Apr 27, 2018
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Researchers call for better newborn screens across the U.S.
Oct 25, 2022
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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 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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A convenient, low-cost blood test for COVID-19 has been developed by scientists in Wales.
Jul 28, 2020
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A virus that causes hearing loss and intellectual disabilities in infants is being underdiagnosed, according to UNSW researchers, who are calling for routine screening for all pregnant women and newborns.
Jun 21, 2011
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Group B streptococcal (GBS) is a common bacteria that likes to live in the human gut and migrate down the rectum, vagina and sometimes to the urinary tract. Not everyone has GBS but even if you do, you might not know it; ...
May 29, 2020
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Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive ...
Sep 14, 2023
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Both an early and late first exposure to solid food for infants appears to be associated with the development of type 1 diabetes mellitus (T1DM), according to a study published by JAMA Pediatrics.
Jul 8, 2013
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