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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The birth of a new child is an exciting, anxiety-inducing, life-changing event. Among the flurry of physical health tests and introductions to your new family addition, your child is screened for a litany of rare diseases ...
Mar 3, 2016
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Researchers at the Stanford University School of Medicine have developed a fast, inexpensive and highly accurate test to screen newborns for cystic fibrosis. The new method detects virtually all mutations in the CF gene, ...
Feb 2, 2016
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There is a hint of a benefit of pulse oximetry screening as an add-on test to existing standard examinations for detection of critical congenital heart defects in newborns: More cases are detected by additional screening ...
Oct 30, 2015
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An analysis of five families has revealed a previously unknown genetic immunodeficiency, says an international team led by researchers from Boston Children's Hospital. The condition, linked to mutations in a gene called DOCK2, ...
Jun 18, 2015
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(HealthDay)—Universal critical congenital heart defect (CCHD) screening is expected to detect a considerable number of nonsyndromic CCHD cases, but a similar number of false-negative screenings are also likely, according ...
May 12, 2015
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(HealthDay)—Primary care providers should offer educational materials and provide genetic counseling to families when they receive positive results for sickle cell trait (SCT) at the time of newborn screening, according ...
Dec 14, 2014
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Severe combined immunodeficiency (SCID), a potentially life-threatening, but treatable, disorder affecting infants, is twice as common as previously believed, according to a new study that is the first to examine the national ...
Aug 19, 2014
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A European Journal of Neuroscience study suggests that it is critical to treat lysosomal storage disorders early, before symptoms arise. These genetic disorders, which are caused by the malfunction of enzymes that normally ...
Aug 4, 2014
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Children born with so-called "bubble boy" disease have the best chance of survival if they undergo a hematopoietic stem cell transplant as soon after birth as possible, according to a detailed analysis of 10 years of outcome ...
Jul 30, 2014
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