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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Babies born in U.S. hospitals currently undergo routine newborn screening, a laboratory test to identify the risk of up to 60 treatable conditions. But hundreds of genetic disorders, including a growing number of devastating ...
May 8, 2023
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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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Scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) are using a new approach to pinpoint the causes of rare genetic diseases in children and identify treatment options faster than with ...
Apr 30, 2019
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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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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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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 single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Dec 20, 2012
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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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Findings from a recent study in the Journal of Neuromuscular Diseases demonstrate the effectiveness of disease-modifying treatments (DMTs) in infants with spinal muscular atrophy (SMA). The study's results add further support ...
Apr 15, 2024
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