Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes ...
Aug 24, 2022
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Since the beginning of the COVID-19 pandemic, many pediatric patients who suffer from headaches have experienced more frequent headaches and worsening anxiety and mood, and a new study finds links to stress, decreased physical ...
Aug 5, 2022
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Infants from minoritized racial and ethnic backgrounds who have positive newborn screening tests for cystic fibrosis received their diagnostic follow-up for the disease later than recommended and later than white, non-Hispanic ...
Jul 27, 2022
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Expanded genomic sequencing may be an effective adjunct hearing screening to detect hearing loss among patients in the neonatal intensive care unit (NICU), according to a study published online July 11 in JAMA Network Open.
Jul 12, 2022
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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 team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, ...
Jul 12, 2021
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With the rise of genomic sequencing, health technology companies are promising parents they can detect rare metabolic disorders in newborns who, despite a healthy appearance, may need immediate treatment.
Aug 10, 2020
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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 distinguished panel of medical experts, state and federal health officials, and congenital heart disease parent advocates published recommended updates to the current American Academy of Pediatrics' protocol for detecting ...
Jun 4, 2020
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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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