UCSF Benioff Children's Hospital Oakland is the first hospital in the West to administer a newly approved gene therapy to treat beta thalassemia, a rare, genetic blood disorder that causes severe anemia, with a need for lifelong ...
Aug 31, 2023
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New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)—a genetic disorder characterized by weakness and wasting ...
Jun 8, 2022
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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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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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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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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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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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Every day, the hopes and dreams of hundreds of new parents pass through the capable hands of approximately 20 people they will probably never meet on the fourth floor of a UW-Madison campus building they will probably never ...
Jul 15, 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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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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