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Expanding Newborn Screening Panels in the Genomic Era
The pace of genetic discovery has expanded the ability to diagnose more of the rare, inherited diseases that threaten the lives of newborns. And yet, the pace of adding new diseases to the newborn screening program is lagging.
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Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metabolic Disorder
Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, infants with some genetic diseases appear healthy at birth, but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma—symptoms common to a variety of metabolic disorders
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Building a Brighter Future for High-Risk Newborns
Dr. Aimée Dudley’s lab at PNRI has developed a powerful set of scientific tools that addresses a critical, unmet need in the diagnosis of patients with urea cycle disorders.
