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This podcast is about the advancement of rare disease research told by health professionals, researchers, parents, and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen.
Episodes
Thursday Aug 05, 2021
Exploring the Newborn Screening System from Discovery to Diagnosis
Thursday Aug 05, 2021
Thursday Aug 05, 2021
You're listening to the voice of Dr. Jennifer Taylor, a Genomic Scientist at the American College of Medical Genetics and Genomics (ACMG), who is working on several projects at the Newborn Screening Translational Research Network. In this episode, Dr. Taylor explores the newborn screening system from discovery to diagnosis. She will highlight how research and in particular, the discovery of new technologies to screen, diagnose and treat all begin with a newborns in the first days following birth – whether it is a physiological test performed in the newborn nursery or a blood sample, collected and saved as small drops of blood on filter paper.
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